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Levy R.,Laboratoire dHistologie Embryologie Cytogenetique Cecos | Sermondade N.,Laboratoire dHistologie Embryologie Cytogenetique Cecos | Hafhouf E.,Laboratoire dHistologie Embryologie Cytogenetique Cecos | Dupont C.,Laboratoire dHistologie Embryologie Cytogenetique Cecos | And 2 more authors.
Medecine Therapeutique Medecine de la Reproduction, Gynecologie et Endocrinologie | Year: 2010

Spermatogenesis is a complex process, with more than 4,000 genes involved. Male infertility is one of the commonest disorders, afflicting 2 to 10% of male patients. Infertile men should be evaluated with two objectives: to exclude treatable conditions and to identify those who are candidates for assisted reproductive technologies (ART), and among them, those who should be offered genetic screening. In fact, intracytoplasmic sperm injection or ICSI is a highly efficient treatment of male factor infertility. However, when used to treat patients with a genetic cause for their infertility, there may be an increased risk for the off spring. Chromosome aberrations, Y chromosome microdeletions and CFTR (Cystic Fibrosis Transmembrane conductance Regulator) mutations may explain up to 25% of azoospermia and severe oligozoospermia. Therefore, men with very low sperm counts (<1 × 10 million/mL) considering ICSI should always be informed of the possibility of genetic testing. If an abnormality is identified, patients should be referred to specialist genetic counselling.

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