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Chapter 7 - Chromosomal Causes of Infertility

Published online by Cambridge University Press:  15 December 2022

By
Svetlana A. Yatsenko  and
Aleksandar Rajkovic
Edited by
Stéphane Viville  and
Karen D. Sermon
Stéphane Viville
Affiliation:
Laboratoire de Génétique Médicale de Strasbourg and Laboratoire de diagnostic génétique, Strasbourg
Karen D. Sermon
Affiliation:
Reproduction and Genetics Research Group, Vrije Universiteit Brussel
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Summary

The genetic causes of male infertility are highly heterogeneous, and a large portion of these causes remains unexplained. More than 2300 testes-specific genes may contribute to male infertility [1]. Primary testicular disorders affecting spermatogenesis are commonly associated with abnormal semen parameters, including sperm concentration (oligozoospermia or azoospermia), morphology, motility, and vitality. Studies in infertile men have demonstrated that up to 20% carry constitutional chromosome aberrations [2–5]. Genomic aberrations found in these patients include numerical abnormalities, such as Klinefelter syndrome and its variants; XYY karyotype; testicular disorders of sex development, such as XX males; structural chromosome rearrangements, including Robertsonian translocations, balanced reciprocal translocations and inversions; as well as submicroscopic DNA copy number alterations (microdeletions and microduplications) encompassing genes associated with spermatogenesis or gonadal development.

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 99 - 115
Publisher: Cambridge University Press
Print publication year: 2023

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