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Related Concept Videos

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Adrenal Gland Disorders

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Inborn Errors of Metabolism

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Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

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Related Experiment Video

Updated: Jul 6, 2026

Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish
07:19

Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish

Published on: December 21, 2016

17beta-Hydroxysteroid dehydrogenase 3 deficiency.

S Andersson1, D W Russell, J D Wilson

  • 1The Green Center for Reproductive Biology Sciences and the Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.

Trends in Endocrinology and Metabolism: TEM
|May 1, 1996
PubMed
Summary
This summary is machine-generated.

Mutations in the 17beta-hydroxysteroid dehydrogenase 3 gene cause impaired testosterone formation in genetic males, leading to female external genitalia. At puberty, extraglandular isoenzymes convert androstenedione to testosterone, causing virilization.

Related Experiment Videos

Last Updated: Jul 6, 2026

Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish
07:19

Visualizing the Interrenal Steroidogenic Tissue and Its Vascular Microenvironment in Zebrafish

Published on: December 21, 2016

Area of Science:

  • Biochemistry
  • Genetics
  • Endocrinology

Background:

  • The 17beta-hydroxysteroid dehydrogenase (17β-HSD) enzyme family regulates steroid hormone interconversion.
  • 17β-HSD3 is crucial for testosterone synthesis in fetal testes.

Purpose of the Study:

  • To characterize mutations in the 17β-HSD3 gene and understand their impact on male sexual development.
  • To elucidate the mechanism of testosterone production in affected individuals during puberty.

Main Methods:

  • Genetic analysis of 17 families with 17β-HSD3 deficiency.
  • Characterization of 14 distinct mutations (10 missense, 3 splice, 1 frame shift).

Main Results:

  • Mutations in 17β-HSD3 impair fetal testosterone production, resulting in 46,XY individuals with female external genitalia.
  • Affected individuals undergo virilization at puberty due to extraglandular conversion of androstenedione to testosterone by other 17β-HSD isoenzymes.
  • Ten unique missense mutations, three splice junction abnormalities, and one frame shift mutation were identified.

Conclusions:

  • 17β-HSD3 deficiency leads to a specific disorder of sex development with virilization at puberty.
  • Extraglandular 17β-HSD isoenzymes compensate for the lack of testicular 17β-HSD3 activity, enabling testosterone production post-puberty.