background: androgen insensitivity syndrome (ais) or testicular feminization is a partial or complete inability of cell response to androgen. the cause is enzymatic defect in synthesis of testosterone, resulting sexually immature phenotypically female, with primary amenorrhea. there are three categories of ais, complete, partial and mild, depending on the degree of external genital masculinizat...

the androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. the primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. this prevents normal androgen action and thus leads to impaired virilization. a point m...

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...

CONTEXT Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals wi...

The article presents a clinical observation of an extremely rare in gynecological practice androgen insensitivity syndrome (AIS). authors give data on the pathogenesis disease, modern classification and terminology various forms this pathology. phenotypic manifestations results instrumental studies surgical treatment are described. study show possibility diagnosis AIS timely patients with patho...

•A seminoma developed in a patient with androgen insensitivity syndrome.•The patient had a de novo androgen receptor mutation.•Proper management of AIS, including appropriate genetic counseling, is necessary.

introduction women with mosaic turner syndrome (ts) bearing the presence of y chromosome material or with complete androgen insensitivity syndrome (cais) is at risk of gonadal malignancy. two patients with characteristic features of these uncommon disorders are reported, and the surgical techniques of laparoscopic gonadectomy are reviewed and discussed. the aim of the present study is to report...

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...

Three cases of Down syndrome (DS) are reported in association with features of the androgen insensitivity syndrome (AIS). All were 47, XY, +21 and reared as females. One case had a normal female phenotype, and two cases showed minimal clitoromegaly and labial fusion. Minor genital underdevelopment has been reported as common in males with DS; however, AIS has not previously been associated with...