Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome

Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is the most common specific cause of 46,XY disorder in sex development. The androgen signaling pathway is complex but so far, the only gene linked with AIS is the androgen receptor (AR). Mutations in the AR are found in most subjects with complete AIS but in partial AIS, the rate has varied 28–73%, depending on the case selection. More than over 800 entries...

Genotype versus phenotype in families with androgen insensitivity syndrome.

Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is important for sex assignment, treatment of androgen insensitivity syndrome patients, genetic counseling of their families, and insight into the functional domains...

Complete Androgen Insensitivity Syndrome in Three Sisters

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...

Androgen insensitivity syndrome

The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD (disorder of sex development) and present as phenotypes associated with complete or partial resistance to the action of androgens. Three categories are recognized: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), mild androgen insensitivity syndrome (MAIS). Th...