Increased frequency of heterozygosity for the 21 hydroxylase deficiency among hirsute females

• Published in: Journal of Steroid Biochemistry and Molecular Biology [J. STEROID BIOCHEM.]. Vol. 25, no. suppl. 1986 Vol. 25; p. no. sul.
• Main Authors: Dewailly, D, Vantyghem-Haudiquet, M C, Sainsard, C, Buvat, J, Siame-Mourot, C, Pagniez, I, Dufosse, F, Pacadot, A, Fossati, P
• Format: Conference Proceeding
• Language: English
• Published: 01.01.1986
• ISSN: 0022-4731

An IV bolus of 0.25 mg of synthetic ACTH (Synacthen) was given in early follicular phase to 7 normal females and to 9 other women whom heterozygosity for 21 hydroxylase deficiency (21 HD) has been proven by HLA genotyping within the scope of family studies. The 2 groups were separated the host by using the sum of the deltas of 17 hydroxyprogesterone (17 OHP) and progesterone (P) responses, 60 min after the injection of ACTH. Data suggest that heterozygosity for 21 HD may be much more frequent in women with idiopathic hirsutism or PCOD than in the general population where it is about 2%. This would imply that heterozygosity for 21 HD in women may have a clinical expression through unknown mechanisms which remain to be elucidated.