1. Azoospermie při nálezu rozsáhlé přestavby Y chromozomu -- isochromozomu i(Y)(p10).
- Author
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Broul, Marek, Lišková, Lucie, Kučerová, Petra, Žižková, Kamila, Laštůvková, Jana, Čejnová, Vlasta, Harmaš, Vjačeslav, Cihlář, Filip, Radovnická, Lucie, and Hujová, Aneta
- Abstract
In the article we present a case report of a young man who was undergoing investigation for infertility. Spermogram results showed azoospermia. Only a complex sexological, urological and genetic examination found the cause of the couple's infertility, namely a structural aberration of the Y chromosome isochromosome i(Y)(p10), duplication of the short arm of the Y chromosome and deletion of the entire long arm of the Y chromosome (hence the entire AZF gene region). This finding correlated with the clinical findings of azoospermia. Isochromosome Yp (ORPHA:98797) is a rare gonosomal aberration characterised by variable clinical manifestations including: normal healthy fertile men, men with infertility and men with ambiguous genitalia and incomplete masculinisation. After the discovery of this chromosomal aberration, the couple decided to undergo assisted reproduction using donor sperm. [ABSTRACT FROM AUTHOR]
- Published
- 2024