Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

July 2003 in “ The Journal of Clinical Endocrinology & Metabolism ”

Karla Melo, Berenice B. Mendonça, Ana Elisa C. Billerbeck, Elaine Maria Frade Costa, Marlene Inácio, Frederico A.Q. Silva, A.M.O. Leal, Ana Claudia Latrônico, Ivo J.P. Arnhold

androgen insensitivity syndrome androgen receptor gene male pseudohermaphroditism complete androgen insensitivity syndrome partial androgen insensitivity syndrome 46,XY karyotype gynecomastia X-linked inheritance AIS CAIS PAIS

TLDR Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

The study focused on androgen insensitivity syndrome (AIS) in a Brazilian cohort, examining 32 subjects with male pseudohermaphroditism from 20 families, including 9 with complete AIS (CAIS) and 11 with partial AIS (PAIS). The research identified five novel mutations in the androgen receptor gene, contributing to the understanding of AIS's genetic basis. Subjects were selected based on specific criteria, including a 46,XY karyotype, normal male hormone levels, gynecomastia at puberty, and family history indicative of X-linked inheritance. This study provided insights into the clinical, hormonal, behavioral, and genetic characteristics of AIS, highlighting the variability in phenotypes associated with the syndrome.

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