ESPE Abstracts

Background and objectives: The diagnosis of CAH is a matter of urgent attention as a missed diagnosis can add to mortality due to adrenal insufficiency and inadequate sex of rearing which is psychologically traumatic both for the parents and the child. It is also a matter of grave concern because screening facilities are non-existent in Pakistan along with increase prevalence of intra family marriages thus adding to the increase incidence of this condition. Lack of endocrine facilities and unavailability of confirmatory diagnostic investigations in most of tertiary care hospitals adds to the gravity of situation. The aim of this study is to determine the challenges faced by pediatricians working in a tertiary care hospital of a developing country in establishing the diagnosis of Congenital adrenal hyperplasia with absence of endocrine facilities and confirmatory investigations.

Material and Method: Cross-sectional study was conducted in the Pediatric Department of tertiary care hospital using consecutive convenient sampling.

Results: 38 patients were enrolled, mean age of presentation was 25 days. Mode of presentation was ambiguous genitalia and electrolyte imbalance. 8/38 patients had persistent vomiting, 6/38 had hyper pigmentation, 4/38 had lethargy. Electrolyte imbalance was present in 98%. 17 hydroxy progesterone of all the patients was arranged with funds from different sources. 23/38 showed very high levels while 15/38 patients had mild elevation. Short synacthen test was done of 5/15 and treatment with hydrocortisone and florinef was started of 10/38 to prevent adrenal crises. Treatment of 3/5 was stopped after results of short synacthen test. Karyotyping of 20/38 was done. 12/38 had 46-XX and 8/38 had 46-XY. Ultrasound of pelvic organs of 11/20 showed consistent organs with karyotyping 1/20 had inconsistent organs and 8/20 was inconclusive. 18/20 never agreed for ultrasound. Naming of children with confirmed karyotype was advised to 20/38 while 18/38 were undecisive about naming their child. Hormone testing of 21/38 for deciding about type of CAH with cortisol, ACTH, renin, aldosterone and DHEA-S was done. Genetic analysis of 2/38 was sent, results are still awaited.

Conclusion: Physicians face diagnostic difficulties in the absence of screening program and confirmatory diagnostic test facilities which are quite expensive and non-existent in government owned hospitals which cater for majority of marginalized population. This leads to delay in initiation of treatment, increase mortality and inadequate sex of rearing.