Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, ambiguous genitalia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
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: 2019-07-03 

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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