[The 46,XX male; a chromosomal form of a disorder of sex development].

Margaretha M, Visser; Helen L, Lutgers; Conny M A, van Ravenswaaij

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Article . 2019

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[The 46,XX male; a chromosomal form of a disorder of sex development].

descriptionPublicationkeyboard_double_arrow_right Article 09 Sep 2019 Dutch; Flemish Journal:Nederlands tijdschrift voor geneeskunde, volume 162 (issn: 1876-8784,

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Authors: Margaretha M, Visser; Helen L, Lutgers; Conny M A, van Ravenswaaij;

pmid: 30358369

[The 46,XX male; a chromosomal form of a disorder of sex development].

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Abstract

A disorder of sex development (abbreviated DSD) is defined as a congenital condition in which development of chromosomal, gonadal or anatomical sex is atypical. DSD is caused by a disruption of foetal sexual development, which is largely influenced by various genetic and hormonal factors. The SRY gene, located on the Y chromosome, plays a key role in sexual development.A 32-year-old male was found to be infertile because of azoospermia. His habitus was that of a male. Hormonal analysis revealed hypergonadotropic hypogonadism. Karyotyping and fluorescence in situ hybridisation (FISH) revealed a 46,XXSRY+ pattern due to an unbalanced X;Y translocation in the presence of SRY on an X chromosome, this is classified as a chromosomal form of DSD.Male infertility can be caused by DSD, even if a male habitus makes this seem unlikely at first.

Related Organizations

University of Groningen
Netherlands

Keywords

Adult, Male, 46, XX Testicular Disorders of Sex Development, Karyotyping, Humans, Genes, sry, In Situ Hybridization, Fluorescence, Infertility, Male, Translocation, Genetic, Azoospermia

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