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stringlengths
6
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stringclasses
138 values
text
stringclasses
138 values
context
stringclasses
138 values
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18 values
role-name
stringclasses
18 values
raw-initial-ground-truth
listlengths
0
18
test-801
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Respiratory-System
RESP
[]
test-802
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Musculoskeletal-System
MSK
[]
test-803
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Eyes-Ears-Nose-Throat
EENT
[ "lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust", "teeth have progressively stained brownish - red" ]
test-804
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Dermatology
DERM
[ "easy skin blistering and scarring", "multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back", "severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands.", "scarring of her skin at sun - expose...
test-805
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Pregnancy
Pregnancy
[ "born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively" ]
test-806
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Lymphatic-System
LYMPH
[]
test-807
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Age-at-Presentation
Age (at case presentation)
[ "14 years" ]
test-808
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Age-of-Onset
Age (of onset)
[ "3 - week - old" ]
test-809
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[ "These results confirmed a diagnosis of CEP" ]
test-810
3214312
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...
IEM-Treatment
IEM_Treatment
[ "6 months ," ]
test-811
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Vitals-and-Hematology
Vitals_Hema
[ "His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84 / min, respiratory rate of 24 / min, and body temperature of 36 ℃." ]
test-812
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Gastrointestinal-System
GI
[ "become nauseated, and vomited", "nauseated, and developed severe vomiting.", "recurrent abdominal pain", "no evidence of gastrointestinal bleeding", "no evidence of chronic liver disease" ]
test-813
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Patient-History
History
[ "A 59 - yr - old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. T...
test-814
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Neurology
Neuro
[ "progressive lethargy and confusion since the early morning.", "fatigue over the previous 3 months.", "failed to arise at his normal time and exhibited inappropriate behavior and drowsiness.", "periodic episodes of convulsions", "not experienced any seizures in adulthood", "was in a semi - coma; his Glasg...
test-815
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Laboratory-and-Imaging
Lab_Image
[ "Laboratory investigations showed that he had hyperammonemia ( 143.8 mM ), elevated liver enzymes ( alanine aminotransferase, 179 U / L; aspartate aminotransferase, 91 U / L ), a total bilirubin level of 1.91 mg / dL, and a blood glucose level of 106 mg / dL. His blood urea nitrogen and serum creatinine levels were...
test-816
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Cardiovascular-System
CVS
[]
test-817
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Endocrinology
ENDO
[]
test-818
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Genitourinary-System
GU
[]
test-819
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Respiratory-System
RESP
[]
test-820
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Musculoskeletal-System
MSK
[]
test-821
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Eyes-Ears-Nose-Throat
EENT
[]
test-822
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Dermatology
DERM
[]
test-823
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Pregnancy
Pregnancy
[]
test-824
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Lymphatic-System
LYMPH
[]
test-825
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Age-at-Presentation
Age (at case presentation)
[ "59 - yr - old" ]
test-826
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Age-of-Onset
Age (of onset)
[]
test-827
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[ "late - onset ornithine carbamoyltransferase deficiency" ]
test-828
3342550
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...
IEM-Treatment
IEM_Treatment
[ "arginine ( 3 g ) and sodium benzoate ( 3 g ) were administered via nasogastric tube every 4 - 6 hr . Dextrose solution ( 10 % ) was supplied intravenously , and a protein - free formula was supplied via a feeding tube", "He continued to receive sodium benzoate ( 3 g ) and arginine ( 3 g ) three times daily . The...
test-829
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Vitals-and-Hematology
Vitals_Hema
[ "Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits", "bleeding gums." ]
test-830
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Gastrointestinal-System
GI
[]
test-831
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Patient-History
History
[ "An 18 - year - old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi - Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguine...
test-832
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Neurology
Neuro
[]
test-833
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Laboratory-and-Imaging
Lab_Image
[ "Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds", "Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits", "Orthopantomograph showed severe horizontal bone loss.." ]
test-834
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Cardiovascular-System
CVS
[]
test-835
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Endocrinology
ENDO
[]
test-836
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Genitourinary-System
GU
[]
test-837
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Respiratory-System
RESP
[]
test-838
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Musculoskeletal-System
MSK
[]
test-839
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Eyes-Ears-Nose-Throat
EENT
[ "more teeth present", "generalized mobility of teeth and bleeding gums.", "patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility." ]
test-840
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Dermatology
DERM
[ "considerable hyperkeratosis of palms and soles", "marked palmoplantar hyperkeratosis", "Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.", "bilateral hyperkeratosis of ...
test-841
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Pregnancy
Pregnancy
[]
test-842
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Lymphatic-System
LYMPH
[]
test-843
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Age-at-Presentation
Age (at case presentation)
[ "18 - year - old" ]
test-844
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Age-of-Onset
Age (of onset)
[ "age of 2 - 3 years ." ]
test-845
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[ "Papillon - Lefevre syndrome" ]
test-846
3118082
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...
IEM-Treatment
IEM_Treatment
[]
test-847
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Vitals-and-Hematology
Vitals_Hema
[ "height of 158 cm ( – 1 SD ), weight of 85 kg ( > 2 SD ), body mass index ( BMI ) of 34.13 kg / m 2 ( greater than the 97th centile ) and blood pressure of 150/80 mmHg." ]
test-848
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Gastrointestinal-System
GI
[]
test-849
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Patient-History
History
[ "A 15 - yr - old male patient was referred to our department with a one - year history of gradual worsening of tremors.", "healthy, second - degree consanguineous parents", "He was diagnosed, at 40 d old, with salt - wasting 21 - hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome", "hyp...
test-850
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Neurology
Neuro
[ "Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline", "Brain MRI showed bilateral periventricular white matter hyperintensity on T2 - weighted and fluid - at...
test-851
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Laboratory-and-Imaging
Lab_Image
[ "17 - OH progesterone level of 215 ng / ml,", "Detailed investigations ( renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11 - Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia ) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertensio...
test-852
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Cardiovascular-System
CVS
[ "hypertension" ]
test-853
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Endocrinology
ENDO
[ "salt - wasting", "acute dehydration, salt loss syndrome", "Two adrenal crises occurred at one and nine years of age", "Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative" ]
test-854
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Genitourinary-System
GU
[]
test-855
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Respiratory-System
RESP
[]
test-856
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Musculoskeletal-System
MSK
[]
test-857
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Eyes-Ears-Nose-Throat
EENT
[ "ophthalmologic were normal" ]
test-858
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Dermatology
DERM
[]
test-859
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Pregnancy
Pregnancy
[ "He was born at term, weighing 2,900 g," ]
test-860
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Lymphatic-System
LYMPH
[]
test-861
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Age-at-Presentation
Age (at case presentation)
[ "15 - yr - old" ]
test-862
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Age-of-Onset
Age (of onset)
[ "40 d old" ]
test-863
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[ "with salt - wasting 21 - hydroxylase deficiency CAH" ]
test-864
3687627
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...
IEM-Treatment
IEM_Treatment
[ "hydrocortisone , fludrocortisone and salt" ]
test-865
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Vitals-and-Hematology
Vitals_Hema
[]
test-866
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Gastrointestinal-System
GI
[ "vomiting and diarrhea" ]
test-867
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Patient-History
History
[ "A 33 - year - old G2P1 woman presented to our obstetric unit at 17 weeks ' gestation for antenatal care of her second pregnancy", "Upon reevaluation of family history, however, the parents revealed that their 27 - month - old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36 +...
test-868
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Neurology
Neuro
[]
test-869
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Laboratory-and-Imaging
Lab_Image
[ "Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively", "karyotype by amniocentesis was 46,XX", "Level II ultrasonography after 21 weeks ' ges...
test-870
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Cardiovascular-System
CVS
[]
test-871
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Endocrinology
ENDO
[]
test-872
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Genitourinary-System
GU
[ "normal female external genitalia" ]
test-873
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Respiratory-System
RESP
[]
test-874
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Musculoskeletal-System
MSK
[]
test-875
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Eyes-Ears-Nose-Throat
EENT
[]
test-876
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Dermatology
DERM
[]
test-877
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Pregnancy
Pregnancy
[ "G2P1", "17 weeks ' gestation", "second pregnancy", "Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively", "Level II ultrasonography afte...
test-878
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Lymphatic-System
LYMPH
[]
test-879
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Age-at-Presentation
Age (at case presentation)
[ "33 - year - old" ]
test-880
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Age-of-Onset
Age (of onset)
[ "Four months after birth" ]
test-881
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[ "CLAH" ]
test-882
3220249
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...
IEM-Treatment
IEM_Treatment
[ "treatment of mineralocorticoid and hydrocortisone ." ]
test-883
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Vitals-and-Hematology
Vitals_Hema
[ "Her height was 110 cm ( 10 - 25th percentile ), weight 23 kg ( 75 - 90th percentile ).", "Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39 / min, pulse rate was 112 / min and body...
test-884
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Gastrointestinal-System
GI
[ "poor weight gain", "without history of vomiting or diarrhea" ]
test-885
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Patient-History
History
[ "Orchiectomy", "A 28 - day - old phenotypic female infant was admitted to pediatric endocrinology clinic of Al - Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length ...
test-886
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Neurology
Neuro
[ "lethargy", "lethargic", "lethargic", "depressed fontanele" ]
test-887
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Laboratory-and-Imaging
Lab_Image
[ "Ultrasonographic examination revealed small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries and adrenal glands had normal sizes", "normal laboratory results except for 17 OHP which was lower during the period", "Renal Doppler ultrasonography and scan was performed which was normal", "Ultrasonography r...
test-888
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Cardiovascular-System
CVS
[ "high blood pressure", "mild dehydration and decreased skin turgor." ]
test-889
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Endocrinology
ENDO
[ "adrenal glands had normal sizes", "decreased cortisol level and increased ACTH level", "adrenal insufficiency" ]
test-890
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Genitourinary-System
GU
[ "small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries", "hyponatremia, hyperkalemia", "testicles in the abdominal cavity and uterus was not detected in pelvis", "External genitalia seemed normal female type with no ambiguity" ]
test-891
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Respiratory-System
RESP
[]
test-892
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Musculoskeletal-System
MSK
[]
test-893
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Eyes-Ears-Nose-Throat
EENT
[ "mild hyperpigmentation, including oral cavity." ]
test-894
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Dermatology
DERM
[ "no hyperpigmentation", "decreased skin turgor.", "mild hyperpigmentation, including oral cavity." ]
test-895
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Pregnancy
Pregnancy
[ "full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length of 51 cm ( 50 th percentile ) and head circumference of 34 cm ( 50 th percentile).The patient had no perinatal problem." ]
test-896
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Lymphatic-System
LYMPH
[]
test-897
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Age-at-Presentation
Age (at case presentation)
[ "28 - day - old" ]
test-898
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Age-of-Onset
Age (of onset)
[ "28 - day - old" ]
test-899
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[ "lipoid CAH" ]
test-900
3415193
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...
IEM-Treatment
IEM_Treatment
[ "replacement therapy with standard doses of glucocorticoid ( hydrocortisone ) and mineralocorticoid ( fludrocortisone ) and sodium chloride was initiated . After replacement therapy , electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition...