Ces Urol 2024, 28(1):30-35 | DOI: 10.48095/cccu2023034
Azoospermia with the finding of an extensive rearrangement of the Y chromosome - isochromosome i (Y)(p10)
- 1 Sexuologické oddělení, Krajská zdravotní, a. s., Masarykova nemocnice v Ústí nad Labem, o. z.
- 2 Urologické oddělení, Krajská zdravotní, a. s., Nemocnice Litoměřice, o. z.
- 3 Fakulta zdravotnických studií, Univerzita Jana Evangelisty Purkyně v Ústí nad Labem
- 4 Oddělení lékařské genetiky, Krajská zdravotní, a. s., Masarykova nemocnice v Ústí nad Labem, o. z.
- 5 Radiologická klinika Fakulty zdravotnických studií Univerzity J. E. Purkyně v Ústí nad Labem a Krajské zdravotní, a. s. - Masarykovy nemocnice v Ústí nad Labem, o. z.
- 6 Interní oddělení Masarykovy nemocnice v Ústí nad Labem, Krajská zdravotní, a. s.
- 7 Klinika urologie a robotické chirurgie Fakulty zdravotnických studií Univerzity J. E. Purkyně v Ústí nad Labem a Krajské zdravotní, a. s. - Masarykovy nemocnice v Ústí nad Labem, o. z.
- 8 Gynekologické oddělení, Krajská zdravotní, a. s., Nemocnice Chomutov, o. z.
Broul M, Lišková L, Kučerová P, Žižková K, Laštůvková J, Čejnová V, Harmaš V, Cihlář F, Radovnická L, Hujová A. Azoospermia with the finding of an extensive rearrangement of the Y chromosome - isochromosome i (Y) (p10). 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.
Keywords: Infertility, genetic evaluation, spermiogram, empty sella syndrome, Y chromosome aberration, isochromosome i(Y)(p10).
Received: November 29, 2023; Revised: December 20, 2023; Accepted: December 20, 2023; Prepublished online: December 22, 2023; Published: May 2, 2024
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