Original Investigations

Human Genetics

, Volume 90, Issue 4, pp 346-349

First online:

A 47,XXY female with unusual genitalia

  • M. SchmidAffiliated withInstitut für Humangenetik der Universität, Universität Würzburg
  • , M. GuttenbachAffiliated withInstitut für Humangenetik der Universität, Universität Würzburg
  • , H. EndersAffiliated withInstitut für Anthropologie und Humangenetik, Universität Tübingen
  • , V. TerruhnAffiliated withFrauenklinik I — Gynäkologie

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Abstract

A 47,XXY karyotype was found in a 6-year-old girl. The patient had female external genitalia, clitoromegaly, remnants of the ductus mesonephricus, uterus, and gonads in the labia majora which were determined to be testes by histology. Cytogenetic and DNA analyses suggest that the Y chromosome had a normal structure and that both X chromosomes were of maternal origin. The unusual clinical findings in the patient are discussed.