An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype

Abstract

Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report : A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region.

Keywords: Aneuploidy; Azoospermia; Fluorescence In Situ Hybridization; Genetic Translocation; Sex-Determining Region Y Protein.

Figure 1a, b and c

The karyotype of the patient involves 45, X,t(Y;15). Red arrows (a and b)) indicate the absence of Y chromosome integrity and the translocation of Yp to chromosome 15. FISH analysis (c) on a metaphase cell spread of the peripheral blood using the subtelomeric probes for chromosome Yp and Yq and Xp and Xq (white arrow) showed the subtelomeric region of Yq was deleted.