Eight novel mutations of the androgen receptor gene in patients with 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 ...

Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome

Androgens are essential for normal male sex differentiation and are responsible for the normal development of male secondary sexual characteristics at puberty. The physiological effects of androgens are mediated by the androgen receptor (AR). Mutations in the AR gene are the most common cause of androgen insensitivity syndrome. The present study undertook a genetic analysis of the AR gene in tw...

laparoscopic gonadectomy in patients with androgen insensitivity syndrome: case series

background the gonadectomy in patients with androgen insensitivity syndrome (ais) has been conventionally performed using laparotomic techniques. but currently several reports have suggested laparoscopic gonadectomy in these patients because of shorter hospital stay and minimal postoperative pain and hemorrhage. objective to report the laparoscopic gonadectomy in 11 patients suffering from andr...