Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.

OBJECTIVE To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder METHODS Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for 17-hydroxyprogesterone (17-OH progesterone) which was measured by Enzyme-Linked Immunosorbent Assay (ELISA). RESULTS Nine patients had elevated 17-OH progesterone levels--confirming 21-hydroxylase deficiency. Range of levels was 174.9 nmol/l to 81678.7 nmol/L (normal less than 13 nmol/L). There were six females and three males and the age at diagnosis ranged from 21 days to 16 years. Five had precocious development, three had salt wasting, and there was one with virilization. One of the salt wasters had ambiguous genitalia. Incidence of 2l-hydroxylase deficiency--20/100,000; salt wasting--35/100,000; the prevalence of 21-Hydroxylase deficiency 10/100,000). CONCLUSION The frequency of 21-Hydroxylase deficiency in The Bahamas is one of the highest worldwide.