Rare diseases · Sign or symptom
Male pseudohermaphroditism
HP:0000037
What it means
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
Rare diseases that can present with this19
Very common80–99%
9- 46,XY complete gonadal dysgenesis
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- Denys-Drash syndrome
- Genitopalatocardiac syndrome
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Leydig cell hypoplasia
- Testicular regression syndrome
- X-linked alpha-thalassemia-intellectual disability syndrome
Common30–79%
3Sometimes5–29%
6- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Dysmorphism-short stature-deafness-difference of sex development syndrome
- Meckel syndrome
- Microphthalmia with linear skin defects syndrome
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
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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.