Androgen Insensitivity Syndrome
| Disorder | |
|---|---|
| OMIM #: | #300068 (Click to access OMIM database) |
| Disorder: | Androgen Insensitivity Syndrome |
| Also known as: | AIS, TESTICULAR FEMINIZATION SYNDROME TFM, ANDROGEN RECEPTOR DEFICIENCY, AR DEFICIENCY, DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY, DHTR DEFICIENCY |
| Clinical | |
| Phenotype: | Genetically male but phenotypically female, infertility, female body habitus, female body fat distribution, gynecomastia, female external genitalia in males, inguinal hernia, sparse to absent pubic hair, sparse to absent axillary hair, disorder of sexual differentiation |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | AR, E4 region |
| Base Change: | T>C, at nucleotide 2558 |
| Amino Acid Change: | leu 676 --> pro |
| 2 Amish | |
| Gene: | AR |
| Base Change: | C>A, at nucleotide 2599 |
| Amino Acid Change: | |
| Last updated: | 2022-11-01 |
| References |
|---|
| Belsham DD, Pereira F, Greenberg CR, Liao S, and Wrogemann K. (1995) Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. Hum Mutat 5(1): 28-33. PubMed ID: 7537149 |
| Personal communication; seen at CSC. |
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