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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.


Subject(s)
Adrenal Hyperplasia, Congenital/diagnosis , Betamethasone/administration & dosage , Chromosomes, Human, Pair 6 , Clitoris/abnormalities , Dexamethasone/administration & dosage , Female , Humans , Hydroxyprogesterones/analysis , India , Infant , Male , Sex Characteristics , Sex Chromosome Aberrations/genetics , Steroid 21-Hydroxylase/analysis
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