Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique

Complete Androgen Insensitivity Syndrome in Three Sisters

Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.

Androgen insensitivity syndrome (AIS) is caused by numerous mutations of the androgen receptor (AR) gene. The phenotype may range from partial AIS (PAIS) with ambiguous genitalia to complete AIS (CAIS) with female genitalia. In 70% of the cases, AR mutations are transmitted in an X-linked recessive manner through the carrier mothers, but in 30%, the mutations arise de novo. When de novo mutatio...

Two cases of androgen insensitivity due to somatic mosaicism

Androgen insensitivity syndrome (AIS) is caused by mutations in the gene encoding the androgen receptor (AR). The incidence of AIS is estimated to be 1 in 99,000. Complete androgen insensitivity syndrome (CAIS) is characterized by a 46,XY karyotype with external genitalia that appear typically female and results from mutations that render the androgen receptor non-functional. Partial androgen i...

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...

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 ...