partial androgen insensitivity syndrome
Findings
No curated finding names partial androgen insensitivity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
Definition from the Mondo Disease Ontology (MONDO:0010720), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CryptorchidismHPOHP:0000028
- 5 of 5 reported patients
- Perineal hypospadiasHPOHP:0000051
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- Aplasia of the ovaryHPOHP:0010463
- Very frequent (80% to 99% of cases)
- Aplasia of the uterusHPOHP:0000151
- Very frequent (80% to 99% of cases)
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- Very frequent (80% to 99% of cases)
- Increased circulating antimullerian hormone concentrationHPOHP:0031102
- Very frequent (80% to 99% of cases)
Show the remaining 15
- GynecomastiaHPOHP:0000771
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Abnormality of secondary sexual hairHPOHP:0009888
- Occasional (5% to 29% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Occasional (5% to 29% of cases)
- AzoospermiaHPOHP:0000027
- Occasional (5% to 29% of cases)
- Bifid scrotumHPOHP:0000048
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARHGNC:644
- Strong · Genomics England PanelApp · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: partial androgen insensitivity syndrome
- Also called
- androgen insensitivity, partialandrogen insensitivity, partial, with or without breast cancerandrogen insensitivity, partial, with or without breast cancer, X-linked recessivefamilial incomplete Male pseudohermaphroditism, type 1PAISpartial androgen resistance syndromepseudohermaphroditism, incomplete male, type IReifenstein syndromeReifenstein syndrome, partial