Condition
Gonadal Dysgenesis, Mixed
Urology / Fertility
Overview
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.
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Gonadal Dysgenesis, Mixed
- Topic type
- Condition
- Category
- Urology / Fertility
- MeSH classification
- C12.050.351.875.253.309.391|C12.050.351.875.253.795.249|C12.200.706.316.309.391|C12.200.706.316.795.249|C12.800.316.309.391|C12.800.316.795.249|C16.131.260.830.835.249|C16.131.939.316.309.391|C16.131.939.316.795.249|C16.320.180.830.835.249|C19.391.119.309.391|C19.391.119.795.249
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.