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46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

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Disease Overview

Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.

Synonyms

  • 17 Beta HSD3 deficiency
  • 17 alpha KSR deficiency
  • 17 alpha ketosteroid reductase deficiency of testis
  • 17 beta HSD3 deficiency
  • 17 beta hydroxysteroid dehydrogenase III deficiency
  • 17-BETA hydroxysteroid dehydrogenase III deficiency
  • 17-Beta hydroxysteroid dehydrogenase 3 deficiency
  • 17-KSR deficiency
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • 17-ketoreductase deficiency
  • 17-ketosteroid reductase deficiency of testis
  • 17-ketosteroidreductase deficiency
  • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • Male pseudoherma-phroditism with gynecomastia
  • Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • neutral 17 beta hydroxysteroid oxidoreductase deficiency
  • neutral 17-Beta-hydroxysteroid oxidoreductase deficiency
  • polycystic ovarian disease due to 17-ketosteroid reductase deficiency
  • polycystic ovary syndrome due to 17-ketosteroid reductase deficiency
  • pseudohermaphroditism, Male, with gynecomastia
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

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