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Related Experiment Videos

11 beta-hydroxylase deficiency in hyperandrogenism.

R Azziz1, L R Boots, C R Parker

  • 1Department of Obstetrics and Gynecology, University of Alabama, Birmingham 35294.

Fertility and Sterility
|April 1, 1991
PubMed
Summary

In hyperandrogenism, 11 beta-hydroxylase deficiency is rare (0.8%), despite 42% showing adrenal hyperactivity. Routine screening for this specific deficiency is likely unnecessary in these patients.

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Area of Science:

  • Endocrinology
  • Reproductive Medicine
  • Genetics

Background:

  • Hyperandrogenism is a common condition in women, often associated with hirsutism and oligomenorrhea.
  • Adrenal steroidogenesis plays a role in androgen excess, with 11 beta-hydroxylase deficiency being a potential, though less common, cause.
  • Assessing the 11-deoxycortisol (S) response to adrenal stimulation is crucial for diagnosing 11 beta-hydroxylase deficiency.

Purpose of the Study:

  • To evaluate the 11-deoxycortisol (S) response in women with hyperandrogenism.
  • To determine the incidence of 11 beta-hydroxylase deficient late-onset adrenal hyperplasia (LO-CAH) in this population.
  • To assess the utility of routine screening for 11 beta-hydroxylase deficiency in hyperandrogenic women.

Main Methods:

  • Prospective study of 260 hyperandrogenic women undergoing acute adrenal stimulation tests.

Related Experiment Videos

  • Comparison of 11-deoxycortisol (S) levels and cortisol (F) levels with 41 healthy controls.
  • Exclusion of patients with 21-hydroxylase deficient LO-CAH.

    • Main Results:

    • Only 0.8% of hyperandrogenic women met criteria for 11 beta-hydroxylase deficient LO-CAH.
    • 42% of patients exhibited elevated basal or stimulated S levels, indicating adrenocortical hyperactivity.
    • Higher testosterone, dehydroepiandrosterone sulfate, and androstenedione levels were observed in patients with elevated S measures.

    Conclusions:

    • The incidence of 11 beta-hydroxylase deficient LO-CAH is low in women presenting with hyperandrogenism.
    • While a significant proportion of hyperandrogenic women show some degree of adrenocortical hyperactivity, it rarely signifies 11 beta-hydroxylase deficiency.
    • Systematic screening for 11 beta-hydroxylase deficiency in all hyperandrogenic women is not recommended.