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

Autor:	Visser MM; Medisch Centrum Leeuwarden, afd. Interne Geneeskunde.; Contact: M.M. Visser (m.m.visser@umcg.nl)., Lutgers HL; Medisch Centrum Leeuwarden, afd. Interne Geneeskunde., van Ravenswaaij CMA; UMCG-Rijksuniversiteit Groningen, afd. Klinische Genetica.
Jazyk:	Dutch; Flemish
Zdroj:	Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2018 Oct 05; Vol. 162. Date of Electronic Publication: 2018 Oct 05.
Abstrakt:	Background: 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. Case Description: 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. Conclusion: Male infertility can be caused by DSD, even if a male habitus makes this seem unlikely at first.
Databáze:	MEDLINE
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