Diseases

46,XY Gonadal Dysgenesis

Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.

MeSH Record

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MeSH Record

Synonyms

12 entry terms
  • 46, XY Gonadal Dysgenesis
  • 46, XY Gonadal Sex Reversal
  • Gonadal Dysgenesis, 46, XY
  • Gonadal Dysgenesis, 46,XY
  • Sex Reversal, Gonadal, 46, XY
  • 46,XY Complete Gonadal Dysgenesis
  • Complete Gonadal Dysgenesis, 46, XY
  • Pure Gonadal Dysgenesis 46,XY
  • Pure Gonadal Dysgenesis, 46, XY
  • Swyer Syndrome
  • XY Pure Gonadal Dysgenesis
  • Syndrome, Swyer

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

91(80); was see under GONADAL DYSGENESIS 1980-90

MeSH Record

Previous Indexing

  • Sex Differentiation Disorders (1966-1979)
  • Turner's Syndrome (1967-1979)

MeSH Hierarchy

Tree Numbers

  1. C12.050.351.875w.253w.096w.687w
  2. C12.050.351.875w.253w.309w.388w
  3. C12.200.706w.316w.096w.687w
  4. C12.200.706w.316w.309w.388w
  5. C12.800w.316w.096w.687w
  6. C12.800w.316w.309w.388w
  7. C16w.131w.939w.316w.096w.687w
  8. C16w.131w.939w.316w.309w.388w
  9. C19w.391.119w.096w.687w
  10. C19w.391.119w.309w.388w

AMA Style

References

  1. National Library of Medicine. 46,XY Gonadal Dysgenesis. Medical Subject Headings (MeSH). 2026. Unique ID D006061. http://id.nlm.nih.gov/mesh/2026/D006061
  2. 46,XY Gonadal Dysgenesis. In: Wikipedia. https://en.wikipedia.org/wiki/XY_gonadal_dysgenesis
  3. 46,XY Gonadal Dysgenesis. In: Wikidata. https://www.wikidata.org/wiki/Q957751