Condition
Gonadal Dysgenesis, 46,XY
Urology / Fertility
Overview
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.
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, 46,XY
- Topic type
- Condition
- Category
- Urology / Fertility
- MeSH classification
- C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388
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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.