Macrozoospermia is associated with severe male infertility. To date, the only gene implicated in this phenotype is the Aurora Kinase C gene. We report in this work the genetic screening of AURKC mutations in 34 patients with macrozoospermia among 3,536 Algerian infertile men. Nineteen patients (56%) were homozygotes for the c.144delC mutation, eight (23.52%) homozygotes for the c.744C>G (p.Y248*) mutation and two (5.88%) compound heterozygotes. No AURKC mutation was identified in five patients (14.7%). Interestingly and although it is generally accepted that nearly all positive mutated AURKC patients have close to 100% large-head spermatozoa, our results showed that 11 patients with AURKC mutations (32.35%) had large-headed spermatozoa lower than 70% (7 with c.144delC and 4 with p.Y248*), and no mutation was found in 2 patients who had >70% of macrocephalic spermatozoa. Twenty ICSI attempts were performed before genetic screening resulting in 39 embryos but no pregnancy was obtained. The sequencing of AURKC exons 3 and 6 is appropriate as a first-line genetic exploration in these patients to avoid unsuccessful ICSI attempts. A percentage of large head spermatozoa beyond 25% and a percentage of multiflagellar spermatozoa beyond 10% are predictive of a positive mutation diagnosis.
Andrologia. 2020 Oct 28 [Epub ahead of print]
Loubna Hamza, Natacha Gaitch, Amira Sallem, Nadjia Boucekkine, Emmanuelle Girodon, Amina Oumeziane, Nabila Attal, Jean Philippe Wolf, Thierry Bienvenu
Faculté des Sciences Biologiques, Université de Science et de Technologie Houari Boumediane (USTHB), Bab Ezzouar, Algeria., Assistance Publique - Hôpitaux de Paris, Site Cochin, Laboratoire de Génétique et Biologie Moléculaires, Groupe Universitaire Paris Centre, Paris, France., Assistance Publique - Hôpitaux de Paris, Site Cochin, Service d'Histologie, Embryologie, Biologie de la Reproduction - CECOS, Groupe Universitaire Paris Centre, Paris, France., Centre d'Assistance Médicale à la Procréation Tiziri, Alger, Algeria., Institut Pasteur d'Algérie ; service d'Immunologie, Dely Ibrahim, Alger, Algeria.