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Published-Ahead-of-Print April 4, 2007, DOI:10.2164/jandrol.106.001933

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Reproductive failure in patients with various percentages of macronuclear spermatozoa: high level of aneuploid and polyploid spermatozoa

Vincent ACHARD , Odile PAULMYER-LACROIX , Georges MERCIER , Géraldine PORCU , Jacqueline SAIAS-MAGNAN , Catherine METZLER-GUILLEMAIN , and Marie Roberte GUICHAOUA *

* To whom correspondence should be addressed. E-mail: mguichaoua{at}ap-hm.fr.

The aim of this study was to describe the association between various percentages of macronuclear spermatozoa, sperm chromosomal abnormalities and reproductive failure in four patients. One patient had a familial history of perinatal deaths. METHODS: Patients were selected according to the coexistence of normal sized and macronuclear sperm (19%, 22%, 29.5%, and 49.7%). Fluorescent in situ hybridization (FISH) on spermatozoa and semi-automated analysis of nuclear surface were assessed. RESULTS: All patients were characterized by an oligoasthenozoospermia. Three patients had a prevalence of irregular macronuclear spermatozoa and prevalence of nondisjunction at the first meiotic division. One patient had a prevalence of regular macronuclear spermatozoa and prevalence of nondisjunction at the second meiotic division. FISH also showed a high rate of polyploidy and various aneuploid sperm. The percentage of sperm with abnormal chromosome complements (25.6%, 43.6%, 51.4%, 71.7% with three colour FISH) was higher than that of macronuclear sperm suggesting that a population of apparently normal-sized spermatozoa that could be used for ICSI was aneuploid. By thresholding nuclear surfaces, we distinguished a shift toward elevated values or two sperm sub-populations, normal and macronuclear. Patients underwent seven ICSI cycles. The fertilization rate was low for three patients (50%, 40%, 50%) and normal for one patient (83.3%). Pregnancy rate per transfer was low (14.3%). CONCLUSION: The present study shows that the macronuclear phenotype can manifest a variety of clinical aspects resulting from either distinct genetic origins or environmental factors. It is also shown that mild rates of macronuclear spermatozoa 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 counselling for a couple when a mild rate of macronuclear spermatozoa is diagnosed in the male.


Key words: FISH • chromosomal abnormalities • macronuclear sperm • meiosis • nuclear surface






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Copyright © 2007 by The American Society of Andrology.