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Related Experiment Videos

Natural potent androgens: lessons from human genetic models

Y S Zhu1, M D Katz, J Imperato-McGinley

  • 1Department of Medicine, Cornell University Medical College, New York, NY 10021, USA.

Bailliere'S Clinical Endocrinology and Metabolism
|January 16, 1999
PubMed
Summary

Genetic defects in 17 beta-hydroxysteroid dehydrogenase-3 (17 beta-HSD-3) and 5 alpha-reductase-2 (5 alpha-RD-2) cause male pseudohermaphroditism, offering insights into androgen action. These conditions lead to ambiguous genitalia at birth, with virilization and gender role changes at puberty.

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Area of Science:

  • Endocrinology
  • Human Genetics
  • Molecular Biology

Background:

  • Male pseudohermaphroditism provides insights into androgen action.
  • 17 beta-hydroxysteroid dehydrogenase-3 (17 beta-HSD-3) and 5 alpha-reductase-2 (5 alpha-RD-2) deficiencies are genetic causes of male pseudohermaphroditism.
  • These enzymes are crucial for androgen metabolism.

Purpose of the Study:

  • To elucidate androgen actions using genetic models of male pseudohermaphroditism.
  • To review mutations and clinical presentations of 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies.

Main Methods:

  • Literature review of identified mutations in 17 beta-HSD-3 and 5 alpha-RD-2 genes.
  • Analysis of clinical phenotypes associated with these genetic defects.

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Main Results:

  • Fourteen mutations in the 17 beta-HSD-3 gene and 31 mutations in the 5 alpha-RD-2 gene have been reported.
  • Affected individuals present with normal wolffian structures but ambiguous genitalia, often with virilization and gender role changes at puberty.
  • Specific clinical features include normal wolffian structures, ambiguous genitalia, pubertal virilization, potential gynaecomastia, infantile prostate, and decreased facial hair.

Conclusions:

  • 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies are key genetic models for studying androgen action.
  • These conditions highlight the critical roles of testosterone and dihydrotestosterone (DHT) in male sexual development and differentiation.
  • Understanding these genetic defects aids in diagnosing and managing disorders of sex development.