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Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women.
J Clin Endocrinol Metab. 1985 Mar; 60(3):428-39.JC

Abstract

To investigate the adrenal cause of hyperandrogenism in peri- and postpubertal hirsute women, baseline and ACTH-stimulated serum concentrations of delta 5-17-hydroxypregnenolone (delta 5-17P), dehydroepiandrosterone (DHEA) and its sulfate, 17-hydroxyprogesterone (17-OHP), cortisol, delta 4-androstenedione, and testosterone were determined in 116 women with hirsutism or acne of peri- and postpubertal onset with or without menstrual abnormalities. The results were compared with the same steroid concentrations in 30 normal age-matched women. Sixteen of the 116 women with hirsutism whose ACTH-stimulated 17-OHP levels (mean +/- SD, 5404 +/- 3234 ng/dl; normal, 334 +/- 194) were markedly elevated while their ratios of delta 5-17P to 17-OHP (0.4 +/- 0.2; normal, 3.4 +/- 1.5) were low were diagnosed as having nonclassical symptomatic 21-hydroxylase deficiency. Seventeen other hirsute women, including 3 siblings, had very high responses of delta 5-17P (2276 +/- 669 ng/dl; normal, 985 +/- 327) and DHEA (2787 +/- 386 ng/dl; normal, 1050 +/- 384) to ACTH stimulation, with significantly elevated ratios of delta 5-17P to 17-OHP (11 +/- 2.0; normal, 3.4 +/- 1.5) and DHEA to delta 4-androstenedione (7.5 +/- 2.3; normal, 4.6 +/- 1.5). In these hirsute women, the morning serum delta 5-17P and DHEA concentrations were elevated, had a diurnal variation, and were suppressed with dexamethasone administration. We propose that partial adrenal 3 beta-hydroxysteroid dehydrogenase deficiency is the cause of hirsutism in these women. This may represent an allelic variant at the genetic locus for 3 beta-hydroxysteroid dehydrogenase deficiency similar to that reported for symptomatic nonclassical 21-hydroxylase deficiency producing peripubertal excess androgen syndrome.

Authors

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Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2982896

Citation

Pang, S Y., et al. "Late-onset Adrenal Steroid 3 Beta-hydroxysteroid Dehydrogenase Deficiency. I. a Cause of Hirsutism in Pubertal and Postpubertal Women." The Journal of Clinical Endocrinology and Metabolism, vol. 60, no. 3, 1985, pp. 428-39.
Pang SY, Lerner AJ, Stoner E, et al. Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women. J Clin Endocrinol Metab. 1985;60(3):428-39.
Pang, S. Y., Lerner, A. J., Stoner, E., Levine, L. S., Oberfield, S. E., Engel, I., & New, M. I. (1985). Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women. The Journal of Clinical Endocrinology and Metabolism, 60(3), 428-39.
Pang SY, et al. Late-onset Adrenal Steroid 3 Beta-hydroxysteroid Dehydrogenase Deficiency. I. a Cause of Hirsutism in Pubertal and Postpubertal Women. J Clin Endocrinol Metab. 1985;60(3):428-39. PubMed PMID: 2982896.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women. AU - Pang,S Y, AU - Lerner,A J, AU - Stoner,E, AU - Levine,L S, AU - Oberfield,S E, AU - Engel,I, AU - New,M I, PY - 1985/3/1/pubmed PY - 1985/3/1/medline PY - 1985/3/1/entrez SP - 428 EP - 39 JF - The Journal of clinical endocrinology and metabolism JO - J Clin Endocrinol Metab VL - 60 IS - 3 N2 - To investigate the adrenal cause of hyperandrogenism in peri- and postpubertal hirsute women, baseline and ACTH-stimulated serum concentrations of delta 5-17-hydroxypregnenolone (delta 5-17P), dehydroepiandrosterone (DHEA) and its sulfate, 17-hydroxyprogesterone (17-OHP), cortisol, delta 4-androstenedione, and testosterone were determined in 116 women with hirsutism or acne of peri- and postpubertal onset with or without menstrual abnormalities. The results were compared with the same steroid concentrations in 30 normal age-matched women. Sixteen of the 116 women with hirsutism whose ACTH-stimulated 17-OHP levels (mean +/- SD, 5404 +/- 3234 ng/dl; normal, 334 +/- 194) were markedly elevated while their ratios of delta 5-17P to 17-OHP (0.4 +/- 0.2; normal, 3.4 +/- 1.5) were low were diagnosed as having nonclassical symptomatic 21-hydroxylase deficiency. Seventeen other hirsute women, including 3 siblings, had very high responses of delta 5-17P (2276 +/- 669 ng/dl; normal, 985 +/- 327) and DHEA (2787 +/- 386 ng/dl; normal, 1050 +/- 384) to ACTH stimulation, with significantly elevated ratios of delta 5-17P to 17-OHP (11 +/- 2.0; normal, 3.4 +/- 1.5) and DHEA to delta 4-androstenedione (7.5 +/- 2.3; normal, 4.6 +/- 1.5). In these hirsute women, the morning serum delta 5-17P and DHEA concentrations were elevated, had a diurnal variation, and were suppressed with dexamethasone administration. We propose that partial adrenal 3 beta-hydroxysteroid dehydrogenase deficiency is the cause of hirsutism in these women. This may represent an allelic variant at the genetic locus for 3 beta-hydroxysteroid dehydrogenase deficiency similar to that reported for symptomatic nonclassical 21-hydroxylase deficiency producing peripubertal excess androgen syndrome. SN - 0021-972X UR - https://www.unboundmedicine.com/medline/citation/2982896/Late_onset_adrenal_steroid_3_beta_hydroxysteroid_dehydrogenase_deficiency__I__A_cause_of_hirsutism_in_pubertal_and_postpubertal_women_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jcem-60-3-428 DB - PRIME DP - Unbound Medicine ER -