Partial androgen insensitivity syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: REIFENSTEIN SYNDROME
ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER
PAIS
Partial androgen resistance syndrome
Number of Symptoms 23
OrphanetNr: 90797
OMIM Id: 312300
ICD-10: E34.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Androgen insensitivity syndrome
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
2
 (HPO:0010458) Female pseudohermaphroditism Frequent [Orphanet] 17 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000048) Bifid scrotum Very frequent [Orphanet] 36 / 7739
5
 (HPO:0000135) Hypogonadism 89 / 7739
6
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
7
 (HPO:0000130) Abnormality of the uterus Very frequent [Orphanet] 86 / 7739
8
 (HPO:0000027) Azoospermia 28 / 7739
9
 (HPO:0000037) Male pseudohermaphroditism 25 / 7739
10
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
11
 (HPO:0010788) Testicular neoplasm Frequent [Orphanet] 10 / 7739
12
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
13
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
14
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
15
 (OMIM) Testis biopsy shows Leydig cell hyperplasia, hyaline tubular ghosts, and mitotic germ cells but no spermatozoa 1 / 7739
16
 (OMIM) Partial deficiency of cytoplasmic DHT-binding 1 / 7739
17
 (OMIM) High testosterone 1 / 7739
18
 (OMIM) Absent vas deferens 1 / 7739
19
 (HPO:0012873) Absent vas deferens 1 / 7739
20
 (OMIM) Normal 46,XY karyotype 2 / 7739
21
 (OMIM) High FSH secondary to androgen insensitivity 1 / 7739
22
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
23
 (OMIM) Oligospermia or azoospermia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The features of this form of male pseudohermaphroditism are hypospadias, hypogonadism, gynecomastia, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Although the affected males are infertile, germ cells with mitotic (and perhaps meiotic) activity ...
Molecular genetics OMIM In 2 unrelated families, Klocker et al. (1992) demonstrated that Reifenstein syndrome was due to a mutation in the AR gene (313700.0011). The 5 patients in the 2 families presented with perineoscrotal hypospadias and undescended testes. After puberty ...