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Updated: Jun 28, 2026

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
Published on: April 21, 2022
[Genetics of male infertility]
F Tüttelmann1, J Gromoll, S Kliesch
1Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster.
Abstract:
Genetic causes of male infertility increase in frequency with decreasing sperm concentration (oligo-/azoospermia). The decision about genetic tests should be made after a complete andrological work-up. Common causes comprise chromosomal aberrations (including Klinefelter syndrome), microdeletions of the AZF loci of the Y chromosome, mutations in the gene responsible for cystic fibrosis (CFTR) causing CBAVD and in genes involved in hypogonadotropic hypogonadism (including Kallmann syndrome). Every genetic investigation should be accompanied by comprehensive genetic counselling to help with the interpretation of results and support the patient/the couple concerning consequences for their family planning and treatment options.
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