The incidence of late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency among hirsute women.
OBJECTIVE
The present study was designed to determine the incidence of 3 beta-hydroxysteroid dehydrogenase deficiency (3 beta-HSD) in adult women with hyperandrogenism.


METHODS
In 78 hirsute patients and 30 normal women in the same age range, an ACTH stimulation test was performed on day 5 of the cycle by administration of a single bolus of 0.25 mg ACTH-(1-24) at 0800 h.


METHODS
The following steroids were measured before, 30 and 60 minutes after ACTH injection: delta 5-pregnenolone (delta 5-P), 17-hydroxy-delta 5-pregnenolone (17-OH delta 5-P), dehydroepiandrosterone (DHEA), delta 5-androstenediol, progesterone (P), 17-hydroxyprogesterone (17-OHP), androstenedione (A), testosterone (T) and cortisol.


RESULTS
Maximum ACTH-stimulated values of delta 5-steroids were in excess of the 90% confidence limits of the control group in 19 hirsute women. Ten patients had an isolated increase in delta 5-P, 17-OH delta 5-P, DHEA or delta 5-androstenediol. Nine patients had an increase in two delta 5 steroids and none had increased values of three or four delta 5 steroids. The ratios of 17-OH delta 5-P to 17-OHP, DHEA to A, delta 5-P to P and delta 5-androstenediol to T were increased in 5, 1, 1 and 1 patients respectively. No patient had elevated values of more than one ratio.


CONCLUSIONS
Using stringent diagnostic criteria, partial 3 beta-HSD deficiency was excluded in all 78 patients and therefore appears to be a rare disorder.
Mathieson
J
J
Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, France.
Couzinet
B
B
Wekstein-Noel
S
S
Nahoul
K
K
Turpin
G
G
Schaison
G
G
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000305:Adrenal Cortex Hormones / Q000378:metabolism; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000453:epidemiology / Q000209:etiology* / Q000503:physiopathology; D000324:Adrenocorticotropic Hormone; D000328:Adult; D005260:Female; D006628:Hirsutism / Q000201:enzymology*; D006801:Humans; D015994:Incidence; D013268:Stimulation, Chemical
D000305:Adrenal Cortex Hormones; D000324:Adrenocorticotropic Hormone; D015096:3-Hydroxysteroid Dehydrogenases