Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Abstract

ABSTRACT. We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member's androgen receptor status and revealed a mutation consisting of the deletion of exon 2 and surrounding introns of the androgen receptor gene. Based on the relative nucleotide positions, we concluded that the deletion mutation in exon 2 and its surrounding introns was approximately 6000 to 7000 bp. This mutation, never previously fully characterized using DNA sequencing, was responsible for complete androgen insensitivity syndrome in this family. Pedigree analysis with a molecular study of the androgen receptor gene in affected families facilitates genetic counseling provided to family members.

A case of primary amenorrhea with 46,XY Karyotype: Androgen insensitivity syndrome (AIS)

“…AIS is thought to be related to approximately 6-10% of cases of primary amenorrhea [4]. Many girls with AIS are tall because the Y-chromosome carries genes for extra height [11].…”

“…It is generally accepted that defects in the AR gene prevent the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from complaints of male infertility to completely normal female external genitalia [4]. It is an X linked disorder associated with vaginal and uterine agenesis in women with a 46,XY karyotype.…”

“…Precise diagnosis of AIS requires clinical, hormonal and molecular investigation and is of great importance for appropriate gender assignment and management in general [4].…”

Laparoscopic Surgery - A Feasible Treatment in Morris Syndrome

“…The DNA sequencing together with molecular study using Polymerase Chain Reaction allowed new mutations to be recently described, including pedigree analysis (11). In 70% of the cases, AR mutations are transmitted in an X-linked recessive manner through the carrier mothers, but in 30%, the mutations comes de novo (12).…”

Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome

“…The coding region of the AR gene was screened by polymerase chain reaction (PCR) amplification and direct sequencing was screened using the ABI 3730 XL DNA analyzer (Applied Biosystems). PCR primers were designed as reported before (12). The AR gene variations were identified between the patient with CAIS and the reference genome using the BLAT tool of the UCSC Genome Browser (available from: http:// genome.ucsc.edu).…”