Androgen insensitivity in man: evidence for genetic heterogeneity.

Complete Androgen Insensitivity Syndrome in Three Sisters

Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome.

The cloning of a cDNA for the human androgen receptor gene has resulted in the availability of cDNA probes that span various parts of the gene, including the entire steroid-binding domain and part of the DNA-binding domain, as well as part of the 5' region of the gene. The radiolabeled probes were used to screen for androgen receptor mutations on Southern blots prepared by restriction endonucle...

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...

Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). A fetus [4] with AIS is genetically male with a 46,XY genotype. The term 46,XY refers to the chromosomes found in most cells of the fetus [4]. Most cells have a total of 46 autosomes, or non-sex chromosome...

Androgen insensitivity syndrome

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...