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Start free with EleplanPartial androgen insensitivity syndrome
ORPHA:90797Disease
Also called PAIS · Partial androgen resistance syndrome
What it is
A difference 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.
Key facts
- Age of onset
- All ages
- Inheritance
- X-linked recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (at birth, Netherlands)Androgen insensitivity syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
7Common30–79%
5Sometimes5–29%
14- Abnormality of secondary sexual hair
- Abnormally high-pitched voice
- Azoospermia
- Bifid scrotum
- Blind vagina
- Clitoral hypertrophy
- Fused labia majora
- Germ cell neoplasia
and 6 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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