Article
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.
The Journal of clinical endocrinology and metabolism - 1 Jan 2005
Köhler Birgit, Lumbroso Serge, Leger Juliane, Audran Francoise, Grau Enric Sarret, Kurtz Francois, Pinto Graziella, Salerno Mariacarolina, Semitcheva Tatiana, Czernichow Paul, Sultan Charles
Abstract excerpt
Androgen insensitivity syndrome (AIS) is caused by numerous mutations of the androgen receptor (AR) gene. The phenotype may range from partial AIS (PAIS) with ambiguous genitalia to complete AIS (CAIS) with female genitalia. In 70% of the cases, AR mutations are transmitted in an X-linked recessive manner through the carrier mothers, but in 30%, the mutations arise de novo. When de novo mutations occur after the...
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