46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia. They generally have small testes and may also have other features such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female.
At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this condition are usually shorter than average for males and are unable to have children (infertile).
Inheritance Pattern
Autosomal dominant
Other Names
46,XX testicular disorder of sex development; 46,XX testicular DSD; nonsyndromic 46,XX testicular disorder/difference of sex development; XX male syndrome
Related Genetics Topics
- SRY — MedlinePlus Genetics
- NR5A1 — MedlinePlus Genetics
- WT1 — MedlinePlus Genetics
- SOX9 — MedlinePlus Genetics
- SOX3 — MedlinePlus Genetics
- X — MedlinePlus Genetics
- Y — MedlinePlus Genetics
Identifiers
- GTR: C2936419
- MeSH: D058531
- OMIM: 400045
- SNOMED CT: 74398009
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
