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Partial androgen insensitivity syndrome
1 OMIM reference -
1 associated gene
9 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
Kennedy disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
Partial androgen insensitivity syndrome
Kennedy disease

AR
(UniProt - OMIM)
 AR
(UniProt - OMIM)

COMMON
GENES 		AR


Citations in the biomedical literature:


Partial androgen insensitivity syndrome
AR
Kennedy disease



Partial androgen insensitivity syndrome
Kennedy disease

Synonym(s):
- PAIS
- Partial androgen resistance syndrome
Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Gynecomastia / breast / mammary gland enlargement / hyperplasia

Partial androgen insensitivity syndrome
Kennedy disease

Very frequent
- Bifid scrotum
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)

Occasional
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Hypotonia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia