The incidence of late‐onset congenital adrenal hyperplasia due to 3β‐hydroxysteroid dehydrogenase deficiency among hirsute women

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Abstract
Objective The present study was designed to determine the incidence of 3β‐hydroxysteroid dehydrogenase deficiency (3β‐HSD) in adult women with hyperandrogenism. design and patients 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 measurements The following steroids were measured before, 30 and 60 minutes after ACTH Injection: Δ5‐pregnenolone (Δ5‐P), 17‐hydroxy‐Δ5‐pregnenolone (17‐OHΔS‐P), dehydroeplandrosterone (DHEA), Δ5‐androstenediol, progesterone (P), 17‐hydroxyprogesterone (17‐OHP), androstenedione (A), testosterone (T) and cortisol results Maximum ACTH‐stimulated values of ΔS‐steroids were in excess of the 90% confidence limits of the control group in 19 hirsute women. Ten patients had an isolated increase in Δ5‐P, 17‐OHΔ5‐P, DHEA or Δ5‐androstenediol. Nine patients had an increase in two Δ5 steroids and none had increased values of three or four Δ5 steroids. The ratios of 17‐OHΔ5‐P to 17‐OHP, DHEA to A, Δ5‐P to P and Δ5‐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 β‐HSD deficiency was excluded in all 78 patients and therefore appears to be a rare disorder.

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