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3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism

R Azziz1, E L Bradley, H D Potter

  • 1Department of Obstetrics and Gynecology, University of Alabama, Birmingham.

American Journal of Obstetrics and Gynecology
|March 1, 1993
PubMed
Summary

This study found that while some women with hyperandrogenism show an exaggerated 17-hydroxypregnenolone response to adrenal stimulation, severe deficiencies in 3 beta-hydroxysteroid dehydrogenase are rare in this population.

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Area of Science:

  • Endocrinology
  • Reproductive Medicine
  • Biochemistry

Background:

  • Deficiencies in 3 beta-hydroxysteroid dehydrogenase (3β-HSD) activity are implicated in a subset of hyperandrogenic women.
  • The precise incidence and clinical significance of 3β-HSD deficiency in hyperandrogenism remain incompletely understood.

Purpose of the Study:

  • To determine the incidence and severity of 3 beta-hydroxysteroid dehydrogenase deficiencies in women presenting with hyperandrogenism.
  • To investigate the adrenal steroidogenic response in a cohort of hyperandrogenic patients.

Main Methods:

  • A prospective study involving 86 hyperandrogenic women (with hirsutism or oligomenorrhea) and 26 healthy controls.
  • Adrenal function was assessed via serum sampling at rest and after corticotropin-(1-24) stimulation.

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  • Key steroid hormones including dehydroepiandrosterone sulfate, androstenedione, and 17-hydroxypregnenolone were measured.

    • Main Results:

    • While 21% of patients exhibited an exaggerated 17-hydroxypregnenolone response to stimulation, none met the criteria for 3β-HSD-deficient late-onset adrenal hyperplasia (defined as > threefold the upper control limit).
    • Patients with exaggerated steroid responses had higher dehydroepiandrosterone sulfate levels but similar testosterone and gonadotropin levels compared to less responsive individuals.
    • Three women were excluded due to responses consistent with 21-hydroxylase-deficient late-onset adrenal hyperplasia.

    Conclusions:

    • An exaggerated 17-hydroxypregnenolone response to adrenal stimulation is common in hyperandrogenism.
    • However, 3 beta-hydroxysteroid dehydrogenase-deficient late-onset adrenal hyperplasia appears to be a rare condition in unselected hyperandrogenic populations.
    • Further investigation into the specific steroidogenic pathways in hyperandrogenism is warranted.