serial-number
stringlengths
6
9
pmcid
stringclasses
138 values
text
stringclasses
138 values
context
stringclasses
138 values
role
stringclasses
18 values
role-name
stringclasses
18 values
raw-initial-ground-truth
listlengths
0
18
test-1101
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Patient-History
History
[ "A 6 - year - old male child, first born of third - degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care ...
test-1102
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Neurology
Neuro
[ "global developmental delay and stiffness of all limbs", "recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far ( last episode at the age of 4 years ).", "global developmental delay. He is not able to stand till date. He is able to speak only monosyl...
test-1103
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Laboratory-and-Imaging
Lab_Image
[]
test-1104
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Cardiovascular-System
CVS
[]
test-1105
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Endocrinology
ENDO
[]
test-1106
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Genitourinary-System
GU
[]
test-1107
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Respiratory-System
RESP
[]
test-1108
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Musculoskeletal-System
MSK
[ "Kyphoscoliosis of trunk was present" ]
test-1109
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Eyes-Ears-Nose-Throat
EENT
[ "Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region" ]
test-1110
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Dermatology
DERM
[ "scaly lesions on skin over both upper and lower limbs since day 5 of life,", "diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented mac...
test-1111
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Pregnancy
Pregnancy
[ "delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice" ]
test-1112
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Lymphatic-System
LYMPH
[]
test-1113
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Age-at-Presentation
Age (at case presentation)
[ "6 - year - old" ]
test-1114
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Age-of-Onset
Age (of onset)
[ "day 5 of life" ]
test-1115
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[]
test-1116
4862294
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...
IEM-Treatment
IEM_Treatment
[]
test-1117
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Vitals-and-Hematology
Vitals_Hema
[ "red colored urine for the past 1 year.", "hemoglobin, 9.8 g / dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase ( 423U / l ) and mild increase in serum bilirubin ( 1.8 mg / dL )",...
test-1118
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Gastrointestinal-System
GI
[ "no history of acute abdominal pain" ]
test-1119
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Patient-History
History
[ "A 27 - year - old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo - exposed areas of the body for the past 12 years" ]
test-1120
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Neurology
Neuro
[]
test-1121
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Laboratory-and-Imaging
Lab_Image
[ "Hematological tests reported hemoglobin, 9.8 g / dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase ( 423U / l ) and mild increase in serum bilirubin ( 1.8 mg / dL )", "Ultrasonogr...
test-1122
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Cardiovascular-System
CVS
[]
test-1123
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Endocrinology
ENDO
[]
test-1124
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Genitourinary-System
GU
[ "red colored urine for the past 1 year" ]
test-1125
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Respiratory-System
RESP
[]
test-1126
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Musculoskeletal-System
MSK
[ "severe pain in the fingers of both hands 1 - year prior presentation", "resorption of distal phalanges of all the fingers in both hands" ]
test-1127
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Eyes-Ears-Nose-Throat
EENT
[ "foreign body sensation in both eyes for the previous 2 years", "The patient 's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of – 0.5 × 115 ° in the right eye and – 1.25 × 80 ° in the left eye. Air - puff tonometry measured intraocular pre...
test-1128
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Dermatology
DERM
[ "history of blistering skin lesions on the photo - exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper - pigmentation and scarring of the photo - exposed areas of t...
test-1129
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Pregnancy
Pregnancy
[]
test-1130
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Lymphatic-System
LYMPH
[]
test-1131
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Age-at-Presentation
Age (at case presentation)
[ "27 - year - old" ]
test-1132
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Age-of-Onset
Age (of onset)
[]
test-1133
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[]
test-1134
4759899
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...
IEM-Treatment
IEM_Treatment
[ "The treatment involved complete avoidance of sunlight and use of dark goggles ." ]
test-1135
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Vitals-and-Hematology
Vitals_Hema
[]
test-1136
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Gastrointestinal-System
GI
[]
test-1137
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Patient-History
History
[ "clitoral resection and vaginoplasty" ]
test-1138
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Neurology
Neuro
[]
test-1139
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Laboratory-and-Imaging
Lab_Image
[ "high testosterone level, raised 17 - hydroxyprogeterone level", "normal karyotype ( 46, XX )", "The first trimester screening conducted at the first visit of 12 + 3 week of gestation was normal and quad test conducted at 16 + 3 week of gestation was also normal.", "blood sugar was mildly increased than norma...
test-1140
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Cardiovascular-System
CVS
[]
test-1141
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Endocrinology
ENDO
[ "enlarged clitoris", "gestational diabetes mellitus", "gestational diabetes mellitus" ]
test-1142
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Genitourinary-System
GU
[ "enlarged clitoris" ]
test-1143
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Respiratory-System
RESP
[]
test-1144
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Musculoskeletal-System
MSK
[]
test-1145
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Eyes-Ears-Nose-Throat
EENT
[]
test-1146
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Dermatology
DERM
[]
test-1147
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Pregnancy
Pregnancy
[ "got pregnant spontaneously without any trial of assisted reproductive technology", "The first trimester screening conducted at the first visit of 12 + 3 week of gestation was normal and quad test conducted at 16 + 3 week of gestation was also normal", "She was diagnosed with gestational diabetes mellitus as bl...
test-1148
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Lymphatic-System
LYMPH
[]
test-1149
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Age-at-Presentation
Age (at case presentation)
[ "27 - year - old" ]
test-1150
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Age-of-Onset
Age (of onset)
[ "eleven years old" ]
test-1151
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[ "a diagnosed case of 21 - hydroxylase deficient simple virilizing form of classic CAH" ]
test-1152
4742476
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...
IEM-Treatment
IEM_Treatment
[ "dexamethasone ( minimum dose 0.5 mg / day to maximum dose 1.0 mg / day )", "changed to prednisolone and the endocrinology department had prescribed it ( minimum dose 10 mg / day to maximum dose 20 mg / day ) before pregnancy ." ]
test-1153
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Vitals-and-Hematology
Vitals_Hema
[ "hemoglobin level of 13.1 g / dL; white blood cell count, 17,800 / mm 3; platelet count, 553,000 / mm 3" ]
test-1154
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Gastrointestinal-System
GI
[ "abdominal discomfort, diarrhea and weight loss", "cachectic and his abdomen slightly distended with shifting dullness", "diarrhea more than 10 times daily", "protracted diarrhea,", "marked improvement of the diarrhea", "abdominal pain" ]
test-1155
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Patient-History
History
[ "A 56 - year - old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital." ]
test-1156
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Neurology
Neuro
[ "general weakness,", "depressed and agitated", "mental change" ]
test-1157
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Laboratory-and-Imaging
Lab_Image
[ "Laboratory examination revealed a hemoglobin level of 13.1 g / dL; white blood cell count, 17,800 / mm 3; platelet count, 553,000 / mm 3; albumin, 2.6 g / dL; total bilirubin, 0.3 mg / dL; GOT, 48 IU / L; GPT, 22 IU / L; and alkaline phosphatase, 117 IU / L. His serum amylase was 856 IU / L and serum lipase 1,077 ...
test-1158
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Cardiovascular-System
CVS
[]
test-1159
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Endocrinology
ENDO
[]
test-1160
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Genitourinary-System
GU
[]
test-1161
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Respiratory-System
RESP
[]
test-1162
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Musculoskeletal-System
MSK
[]
test-1163
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Eyes-Ears-Nose-Throat
EENT
[]
test-1164
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Dermatology
DERM
[ "multiple skin lesions", "skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet", "typical skin lesions", "skin lesions began to alleviate", "By this time, his skin l...
test-1165
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Pregnancy
Pregnancy
[]
test-1166
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Lymphatic-System
LYMPH
[]
test-1167
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Age-at-Presentation
Age (at case presentation)
[ "56 - year - old" ]
test-1168
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Age-of-Onset
Age (of onset)
[]
test-1169
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[]
test-1170
4531688
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...
IEM-Treatment
IEM_Treatment
[ "we initiated therapy with zinc sulfate at 5 mg daily . Three to four days of zinc supplementation produced marked improvement of the diarrhea and , after one week of zinc supplementation , the skin lesions began to alleviate ." ]
test-1171
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Vitals-and-Hematology
Vitals_Hema
[]
test-1172
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Gastrointestinal-System
GI
[]
test-1173
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Patient-History
History
[ "A one - and - half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There ...
test-1174
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Neurology
Neuro
[]
test-1175
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Laboratory-and-Imaging
Lab_Image
[ "Blood investigations, chest X - ray, urine examination showed no abnormality", "Histopathological examination was done which revealed mild hyperkeratosis" ]
test-1176
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Cardiovascular-System
CVS
[]
test-1177
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Endocrinology
ENDO
[]
test-1178
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Genitourinary-System
GU
[ "Left - sided cryptorchidism was present", "cryptorchidism" ]
test-1179
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Respiratory-System
RESP
[]
test-1180
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Musculoskeletal-System
MSK
[]
test-1181
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Eyes-Ears-Nose-Throat
EENT
[ "no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis", "Ophthalmological examination was done and no abnormality found" ]
test-1182
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Dermatology
DERM
[ "generalized scaling over whole body and redness over both cheeks.", "no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer", "fine white to brown scaling over the whole body without any spared area with glisten...
test-1183
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Pregnancy
Pregnancy
[ "prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane", "prolonged labor" ]
test-1184
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Lymphatic-System
LYMPH
[]
test-1185
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Age-at-Presentation
Age (at case presentation)
[ "one - and - half year old" ]
test-1186
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Age-of-Onset
Age (of onset)
[]
test-1187
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
Confirmed-Diagnosis-IEM
Confirmed_Diagnosis(IEM)
[]
test-1188
4601419
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...
IEM-Treatment
IEM_Treatment
[]
test-1189
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Vitals-and-Hematology
Vitals_Hema
[ "65 kg weight, 160 cm height and 116/82 blood pressure" ]
test-1190
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Gastrointestinal-System
GI
[]
test-1191
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Patient-History
History
[ "born of a non - consanguineous marriage following a full term normal vaginal delivery." ]
test-1192
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Neurology
Neuro
[ "average intelligence and had no persistent aggressive, violent or criminal tendencies" ]
test-1193
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Laboratory-and-Imaging
Lab_Image
[ "Karyotyping showed 46XX pattern", "Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X - ray were normal", "Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone,...
test-1194
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Cardiovascular-System
CVS
[]
test-1195
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Endocrinology
ENDO
[ "gain weight, developed hirsutism and never attained menarche", "External body habitus was of male and external genitalia was of female", "no apparent cushingoid features", "normal female internal genitalia and adrenals", "thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing ...
test-1196
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Genitourinary-System
GU
[ "never attained menarche", "external genitalia was of female", "normal female internal genitalia" ]
test-1197
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Respiratory-System
RESP
[]
test-1198
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Musculoskeletal-System
MSK
[]
test-1199
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Eyes-Ears-Nose-Throat
EENT
[]
test-1200
4040068
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...
Dermatology
DERM
[ "Mother had to frequently remove patient 's facial hairs by hair removing cream" ]