Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens (androgenic hormones) that stimulate or control the development and maintenance of male physiological characteristics by binding to androgen receptors. The unresponsiveness of the cell to the presence of androgenic hormones can impair, or prevent, both the m...

Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in phenot...

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 masculinizati...

Androgen insensitivity syndrome is a rare disease, manifested as normal female external phenotype to infertile male with 46 XY karyotype due to different level of resistance of androgen receptor. Androgen insensitivy syndrome is classified as complete, partial and mild androgen insensitivity. Partial androgen insensitivity syndrome is further subclassified according to morphogenesis as predomin...

Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder occurring in phenotypic women with male genotype (46, XY) resulting due to mutation the X chromosome. On other hand, tuberculosis (TB) chronic granulomatous infection caused by Mycobacterium tuberculosis, an acid-fast bacillus. We report case of 22-year-old unmarried female presenting bilateral inguinal pain and primary...

Alternative splicing is an important mechanism for increasing functional diversity from a limited set of genes. Deregulation of this process is common in diverse pathologic conditions. The androgen receptor (AR) is a steroid receptor transcription factor with functions critical for normal male development as well as the growth and survival of normal and cancerous prostate tissue. Studies of AR ...

Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is charac...

OBJECTIVE A two year survey of androgen insensitivity syndrome (AIS) to assess current diagnostic and management strategies. METHODS Cases were ascertained by inclusion on the British Paediatric Surveillance Unit monthly report card for 24 months. RESULTS Fifty one of 139 notifications were confirmed as AIS; 29 cases were complete AIS and 22 cases partial AIS. Seventy six per cent of comple...

This report refers to a rare case of complete androgen insensitivity syndrome that had presented at the age of 35 years with complaint of abdominal mass, primary amenorrhea and infertility to Jimma University Hospital. A well-developed breast with absence of axillary and pubic hair was seen on examination. There was also an abdominal mass arising from the pelvis occupying the hypogastric and ri...