Congenital adrenal hyperplasia: experience at Calcutta.
Indian Pediatr
;
1992 Aug; 29(8): 1013-8
Article
in English
| IMSEAR
| ID: sea-10199
ABSTRACT
Eight patients (7 females, 1 male) with congenital adrenal hyperplasia (CAH), were seen over a 24-month period beginning from March 1988. Seven patients had 21 hydroxylase (21-OH) deficiency while one had 11 beta hydroxylase deficiency. Of the 7 patients with 21-OH deficiency, 3 were of the salt losing (SL-CAH), and 4 were of the non-salt losing (NSL-CAH) type. The patients with NSL-CAH were diagnosed by their elevated 17-hydroxyprogesterone (17-OHP) levels. The 3 cases with SL-CAH were diagnosed on the basis of ambiguous external genitalia, typical electrolyte picture, normal female internal genitalia, sex chromatin and response to steroids. In one patient post-ACTH 17 OHP was alter measured. All 3 patients with SL-CAH were assigned the male sex. Sex reassignment was advised for two children; one accepted the advice and the child is doing well; one family did not accept sex reassignment and the child died. One patient died due to non-availability of fludrocortisone. Six patients are under follow-up. All are doing well except one patient with NSL-CAH who started treatment late. We conclude that a high index of suspicion, early diagnosis and meticulous patient education are the key features of successful management of CAH in India.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Sex Chromosome Aberrations
/
Chromosomes, Human, Pair 6
/
Female
/
Humans
/
Male
/
Betamethasone
/
Dexamethasone
/
Steroid 21-Hydroxylase
/
Sex Characteristics
/
Clitoris
Type of study:
Screening study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian Pediatr
Year:
1992
Type:
Article
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