Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Basal and post-ACTH levels of 17 alpha hydroxy-progesterone (17 OHP) were determined in 53 subjects with hirsutism. Late onset congenital adrenal hyperplasia (LOCAH) was detected in five (10.6%) on the basis of elevated basal and/or ACTH stimulated levels of 17 OHP. Of the five patients, two were considered to have a heterogygous state on account of a small rise in stimulated 17 alpha OHP. Screening tests for LOCAH are essential as the clinical diagnosis is not otherwise possible for this treatable and often familial disorder.
Khandekar
S
S
Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh.
Lata
V
V
Dash
R J
RJ
D019326:17-alpha-Hydroxyprogesterone; D000311:Adrenal Glands / Q000473:pathology*; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D000328:Adult; D005260:Female; D006628:Hirsutism / Q000097:blood / Q000150:complications; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D006965:Hyperplasia; D011446:Prospective Studies; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases