Complete androgen insensitivity syndrome due to androgen receptor gene mutation in the amino acid position 607 which bilateral testes situated in the normal ovary sites / 대한산부인과학회지

ABSTRACT

Androgen insensitivity syndrome (AIS) is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene, represents a variety of phenotypes from females with 46,XY karyotype over individuals with ambiguous genitalia to infertile males. Single base mutations resulting in amino acid substitution represent the most common mutations of the androgen receptor (AR) gene and are associated with complete AIS. The location of the gonads can be variable including, the intra-abdominal cavity, the labioscrotal folds, and the inguinal regions. Testicular descent is a two-stage process comprising transabdominal and transinguinal phases. The first phase is not controlled by androgen and may be regulated by mullerian inhibiting substance, by contrast the second phase is androgen dependent. Recently we have identified a point mutation CGA to TGA at position 607 of exon 3 in complete AIS patient, so we report it with brief review of literatures.