A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

Complete Androgen Insensitivity Syndrome in Three Sisters

A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.

OBJECTIVE Androgen insensitivity syndrome (AIS) is characterized by androgen receptor (AR) dysfunction. Its main characteristic is a female phenotype in an individual with a 46, XY karyotype. The molecular basis of this disorder was investigated in two individuals with familial AIS. PATIENTS AND METHODS The diagnoses of the two individuals were confirmed using ultrasonography, hormonal analys...

A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome

abdominal testes at the time of repair of bilateral inguinal hernia in infancy. At the age of 9 yr, the patient together with her mother visited our service to consult about the pathogenesis. The maternal uncle, reportedly, has “undervirilized external genitalia”. The mother declined to tell further family history. On examination, the patient’s height was 133.2 cm (≅25th percentile) and weight ...

complete androgen insensitivity syndrome in three sisters

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A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

abnormalities. Therefore, the proband was confirmed to have AIS by clinical presentations, biochemistry, ultrasonography, and pathology. Genomic DNA was extracted from peripheral blood leukocytes using standard methods. All eight exons of AR were amplified by polymerase chain reaction (PCR) using appropriate primers designed by Primer Premier and Oligo (Premier Biosoft Co. Ltd., Palo Alto, Cali...