The complete form of androgen insensitivity syndrome (testicular feminization) occurs in a 46,XY karyotype with a mutant X-linked recessive gene that is responsible for the androgen intracellular receptor [l]. An individual with androgen insensitivity syndrome is a male pseudohermaphrodite. Phenotypic characterizations include scanty or absent axillary and pubic hair, slight vulvar hair, a rudi...

OBJECTIVE Androgen insensitivity syndrome (AIS) is characterized by androgen receptor (AR) dysfunction. Its main characteristic is a female phenotype in an individual with a 46, XY karyotype. The molecular basis of this disorder was investigated in two individuals with familial AIS. PATIENTS AND METHODS The diagnoses of the two individuals were confirmed using ultrasonography, hormonal analys...

The naturally occurring mutations of the androgen receptor (AR), detected in patients with androgen insensitivity syndrome (AIS), are currently analyzed by in vitro assays. Unfortunately, these assays do not always permit the demonstration of a direct relationship between the in vitro activity of the receptor and the severity of the phenotype (in particular, for mutations detected in patients w...

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...

The role of the androgen receptor (AR) in male sexual differentiation is revealed in part by the analysis of naturally occurring mutations in families with androgen insensitivity syndrome (AIS). We have investigated a family with partial AIS affecting three generations and have identified a G to A substitution in the AR gene at the fourth position 3 9 from the A of the ATG initiation codon chan...

Androgen insensitivity syndrome (AIS) also called testicular feminizing is a rare X linked disorder of sexual differentiation caused by mutation in the androgen receptor (AR) gene, which located on chromosome (Xq11-q12). In reported cases, individuals with complete (CAIS) presented female appearance and normal breast development, absence uterus ovaries, bilateral undescended testis, elevated te...

Androgen Insensitivity Syndrome (AIS) and its heterogeneous phenotypes comprise the pieces of a challenging clinical problem. The lack of standardized guidelines results in controversies regarding the proper diagnostic and therapeutic approach, including the time and type of intervention. Due to its variable phenotype, AIS is not diagnosed at the proper age that would allow optimal psychologica...