Diseases

Mixed Gonadal Dysgenesis

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

1 entry terms
  • Gonadal Dysgenesis, Mixed

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.309w.391w
  2. C12.050.351.875w.253w.795.249w
  3. C12.200.706w.316w.309w.391w
  4. C12.200.706w.316w.795.249w
  5. C12.800w.316w.309w.391w
  6. C12.800w.316w.795.249w
  7. C16w.131w.260w.830w.835.249w
  8. C16w.131w.939w.316w.309w.391w
  9. C16w.131w.939w.316w.795.249w
  10. C16w.320w.180w.830w.835.249w
  11. C19w.391.119w.309w.391w
  12. C19w.391.119w.795.249w

AMA Style

References

  1. National Library of Medicine. Mixed Gonadal Dysgenesis. Medical Subject Headings (MeSH). 2026. Unique ID D006060. http://id.nlm.nih.gov/mesh/2026/D006060
  2. Mixed Gonadal Dysgenesis. In: Wikipedia. https://en.wikipedia.org/wiki/45,X/46,XY_mosaicism
  3. Mixed Gonadal Dysgenesis. In: Wikidata. https://www.wikidata.org/wiki/Q6883972