Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique.

ABSTRACT:

Background

Mutations of human androgen receptor (AR) gene are responsible for androgen insensitivity syndrome (AIS). Variable phenotypes and androgen receptor binding activity have permitted the classification of AIS into complete (CAIS), partial (PAIS), and minimal or mild (MAIS) forms. Somatic mosaicism in AIS is a rare condition which happened when de novo mutations occur after the zygotic stage.

Methods

Clinical evaluation, hormone measurements, and molecular analysis were performed to diagnose the patient in the study.

Results

A 46, XY girl who conceived through in vitro fertilization (IVF), presented with partial virilization of external genitalia, was found to have the p.C620R in heterozygosity. The variant p.C620R of AR has been previously reported in a patien

SUBMITTER: Wang H 

PROVIDER: S-EPMC6785456 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature