Variable Loss of Functional Activities of Androgen Receptor Mutants in Patients with Androgen Insensitivity Syndrome

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.

Androgen receptor (AR) mutations in androgen insensitivity syndrome (AIS) are associated with a variety of clinical phenotypes. The aim of the present study was to compare the molecular properties and potential pathogenic nature of 8 novel and 3 recurrent AR variants with a broad variety of functional assays. Eleven AR variants (p.Cys177Gly, p.Arg609Met, p.Asp691del, p.Leu701Phe, p.Leu723Phe, p...

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...

Complete Androgen Insensitivity Syndrome.

The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genita...

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...