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.
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Authors | S Chatterjee, S K Chatterjee |
Journal | Indian pediatrics
(Indian Pediatr)
Vol. 29
Issue 8
Pg. 1013-8
(Aug 1992)
ISSN: 0019-6061 [Print] India |
PMID | 1459698
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Hydroxyprogesterones
- Dexamethasone
- Betamethasone
- Steroid 21-Hydroxylase
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Topics |
- Adrenal Hyperplasia, Congenital
(diagnosis, drug therapy, genetics)
- Betamethasone
(administration & dosage, therapeutic use)
- Chromosomes, Human, Pair 6
- Clitoris
(abnormalities, surgery)
- Dexamethasone
(administration & dosage, therapeutic use)
- Female
- Humans
- Hydroxyprogesterones
(analysis)
- India
- Infant
- Male
- Sex Characteristics
- Sex Chromosome Aberrations
(genetics)
- Steroid 21-Hydroxylase
(analysis)
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