Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is autosomal recessively inherited with a world-wide incidence of 1:10 000–1:20 000 births.

Objectives: To document the prevalence of clinically diagnosed CAH and describe the spectrum of the condition in Sri Lankan children.

Method: Request letters were sent to all paediatricians in state-sector hospitals to report details of children <16 years with CAH under their care. State-sector hospitals care for >90% of long-term childhood diseases in Sri Lanka. Questionnaires with a stamped self-addressed envelope were also sent and periodic telephone reminders were given. Data were collected over 6 months from October 2012.

The estimation of prevalence of CAH was done using the number of CAH cases as the numerator and the child population of Sri Lanka of the same age category as the denominator. Population data were from the provisional population data 2012 from the Department of Census and Statistics, Sri Lanka. The study was approved by the Ethical Review Committee, Faculty of Medicine, Colombo.

Results: Details were received of 95 (67 girls) children with CAH. Consanguinity was noted in 37 (38.9%) parents. Of the total, 62 (65.3%) children were diagnosed before they turned a year old and 35 (36.8%) were diagnosed during the 1st month of life.

Estimated prevalence of CAH was 0.181/10 000. A majority of 61 (64.2%) had salt-wasting form of 21 hydroxylase deficiency and 41 (67.2%) were girls.

Diagnosis was made on clinical features in all patients and 94.7 and 77.9% respectively had conclusive 17 OHP and serum electrolyte findings. Ultrasonography supported the diagnosis in 66.3%.

Conclusions: Spectrum of CAH in Sri Lanka is similar to other countries. The prevalence is lower than in Kuwait (1.1/10 000) and other Arabian countries and is higher than the in West (0.06/10 000; Great Britain).