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).


CONCLUSIONS
The frequency of 21-Hydroxylase deficiency in The Bahamas is one of the highest worldwide.
Peter
S
S
Department of Medicine, Princess Margaret Hospital, The University of the West Indies, PO Box CB 12914, Nassau, Bahamas, West Indies. samaxe@aol.com
McDigean
G
G
Sandiford
P
P
Smith
T
T
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000201:enzymology* / Q000453:epidemiology; D001444:Bahamas / Q000453:epidemiology; D002675:Child, Preschool; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011629:Puberty, Precocious / Q000201:enzymology / Q000209:etiology; D013255:Steroid 21-Hydroxylase / Q000097:blood; D014770:Virilism / Q000201:enzymology / Q000209:etiology
D019326:17-alpha-Hydroxyprogesterone; D013255:Steroid 21-Hydroxylase