Journal of Inherited Metabolic Disease

, Volume 2, Issue 3, pp 51–54 | Cite as

Neutral 17β-hydroxysteroid oxidoreductase deficiency in testes causing male pseudohermaphroditism in an infant

  • R. A. Harkness
  • D. Thistlethwaite
  • J. A. B. Darling
  • N. E. Skakkebaek
  • C. S. Corker
Article

Abstract

A deficiency of neutral 17β-hydroxysteroid oxidoreductase activity in tests has been diagnosed in an infant with male pseudohermaphroditism.In vivo stimulation tests of testicular endocrine function with human chorionic gonadotrophin provided an accurate diagnosis in contrast to estimates of enzymic activityin vitro in testes and other tissues. The discrepancy in testes may be due to the absence of gonadotrophin stimulation in the latter studies. Thein vitro studies show that there are at least two forms of 17β-hydroxysteroid oxidoreductase under independent genetic control and that only one form is localized to the testes. The diagnosis before puberty has allowed early treatment by removal of the abnormal testes which should prevent the usual presenting clinical signs of marked masculinization and hirsutism at puberty.

Keywords

Public Health Internal Medicine Clinical Sign Metabolic Disease Early Treatment 

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Copyright information

© MTP Press Limited 1979

Authors and Affiliations

  • R. A. Harkness
    • 1
  • D. Thistlethwaite
    • 1
  • J. A. B. Darling
    • 1
  • N. E. Skakkebaek
    • 2
  • C. S. Corker
    • 2
  1. 1.Departments of Child Life and Health and Paediatric BiochemistryUniversity of EdinburghUK
  2. 2.MRC Reproductive Biology UnitEdinburghUK

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