title: Reproductive failure in patients with various percentages of macronuclear spermatozoa: high level of aneuploid and polyploid spermatozoa.
abstract: The aim of this study was to describe the association between various percentages of macronuclear spermatozoa (MNSs), sperm chromosomal abnormalities, and reproductive failure in 4 patients. One patient had a familial history of perinatal deaths. Patients were selected according to the coexistence of normal-sized spermatozoa and MNSs (19%, 22%, 29.5%, and 49.7%). Fluorescent in situ hybridization (FISH) on spermatozoa and semiautomated analysis of nuclear surface were assessed. All patients were characterized by an oligoasthenozoospermia. Three patients had a prevalence of irregular MNSs and prevalence of nondisjunction at the first meiotic division. One patient had a prevalence of regular MNSs and a prevalence of nondisjunction at the second meiotic division. FISH also showed a high rate of polyploidy and various rates of aneuploid sperm. The percentage of sperm with abnormal chromosome complements (25.6%, 43.6%, 51.4%, 71.7% with 3-color FISH) was higher than the percentage of MNSs. A population of apparently normal-sized spermatozoa that could be used for intracytoplasmic sperm injection (ICSI) was aneuploid. Sperm nuclear surface analysis revealed either a shift toward elevated values or distinguished 2 sperm subpopulations: normal and macronuclear. Patients underwent 7 ICSI cycles. The fertilization rate was low for 3 patients (50%, 40%, 50%) and normal for 1 patient (83.3%). Pregnancy rate per transfer was low (14.3%). The present study shows that the macronuclear phenotype can manifest a variety of clinical aspects. It is also shown that mild rates of MNSs impair fertility and constitute a risk of chromosomal abnormality for the embryos and a risk of perinatal death. We suggest conducting FISH on spermatozoa and genetic counseling for a couple when the percentage of MNSs reaches 20% in at least 1 spermiogram.
authors.affiliation: Laboratoire de Biologie de la Reproduction, Hôpital de la Conception, 147 Boulevard Baille, 13005 Marseilles, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Achard
authors.forename: Odile
authors.initials: O
authors.lastname: Paulmyer-Lacroix
authors.forename: Georges
authors.initials: G
authors.lastname: Mercier
authors.forename: Geraldine
authors.initials: G
authors.lastname: Porcu
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Saias-Magnan
authors.forename: Catherine
authors.initials: C
authors.lastname: Metzler-Guillemain
authors.forename: Marie Roberte
authors.initials: MR
authors.lastname: Guichaoua
mesh_terms: D000782:Aneuploidy; D001331:Automation; D002467:Cell Nucleus / Q000235:genetics / Q000473:pathology*; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D011123:Polyploidy; D011247:Pregnancy; D011256:Pregnancy Outcome; D012189:Retrospective Studies; D012661:Semen / Q000737:chemistry; D013077:Sperm Head / Q000473:pathology; D020554:Sperm Injections, Intracytoplasmic; D013094:Spermatozoa / Q000473:pathology*