Korean J Obstet Gynecol.  2006 Aug;49(8):1795-1802.

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

• Kim HJ
• Ko DS
• Lee JY
• Hong SY
• Shin JH
• Park CH
• Park EJ
• Seo YS
• Park WI

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.

Keyword

Androgen insensitivity syndrome; Androgen receptor gene mutation

MeSH Terms

Amino Acid Substitution
Androgen-Insensitivity Syndrome*
Anti-Mullerian Hormone
Disorders of Sex Development
Exons
Female
Gonads
Humans
Karyotype
Male
Ovary*
Phenotype
Point Mutation
Receptors, Androgen*
Sex Differentiation
Testis*
Anti-Mullerian Hormone
Receptors, Androgen