Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47, XXY Karyotype

Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPBATISTA, Rafael L.RODRIGUES, Andresa S.NISHI, Mirian Y.FEITOSA, Alina C. R.GOMES, Nathalia L. R. A.JUNIOR, Jose Antonio F.DOMENICE, SorahiaCOSTA, Elaine M. F.MENDONCA, Berenice B. de2017-08-172017-08-172017SEXUAL DEVELOPMENT, v.11, n.2, p.78-81, 20171661-5425https://observatorio.fm.usp.br/handle/OPI/21249There are only 2 patients with 47, XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47, XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X-inactivation of the healthy allele. This is the first report of a female patient with 47, XXY karyotype and PAIS phenotype. (C) 2017 S.Karger AG, BaselengrestrictedAccessAndrogen insensitivity syndromeAndrogen receptor geneHeterozygous mutationKlinefelter syndromeSomatic mosaicismtesticular feminizationklinefelters-syndromesomatic mosaicism47,xxy karyotypehypogonadismchromosomepatientHeterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47, XXY KaryotypearticleCopyright KARGER10.1159/000468957Developmental Biology1661-5433