Rare diseases · Sign or symptom
Female external genitalia in individual with 46,XY karyotype
HP:0008730
What it means
The presence of female external genitalia in a person with a male karyotype.
Rare diseases that can present with this9
Very common80–99%
6- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY partial gonadal dysgenesis
- Complete androgen insensitivity syndrome
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Gonadoblastoma
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Males with female external genitalia
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.