Nederlands tijdschrift voor geneeskunde · 2018
[The 46,XX male; a chromosomal form of a disorder of sex development].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Visser Margaretha M, Lutgers Helen L, van Ravenswaaij Conny M A
Аннотация
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.
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.