© Kamla-Raj 2001                                                                         Int J Hum Genet, 1(2): 113-116 (2001)

A Novel Meiotic Anomaly: Infertility Associated with Polyploid Germ Cells and Multi-tailed Sperm

Rolf-Dieter Wegner¹, Heidemarie Neitzel¹, Peter Vogt², Gerd Scherer³, Klaus Grossgebauer⁴, Rudolf Kaden⁵ and Karl Sperling¹

1. Institut für Humangenetik, HU Berlin, Germany

2. Institut für Humangenetik, Heidelberg, Germany

3. Institut für Anthropologie und Humangenetik, Freiburg, Germany

4. Institut für Medizinische Mikrobiologie, FU Berlin, Germany

5. Abteilung für Dermatologie/Andrologie, FU Berlin, Germany

Key words Infertility; aberrant meiosis; polyploidy; multi-tailed sperm; premeiotic S-phase

Abstract  Here we describe an apparently new meiotic anomaly in a healthy 35-year-old man with an oligo-astheno-terato-zoospermy (OAT syndrome), normal male karyotype, and unremarkable endocrinological status. Molecular analysis of the Y chromosome did not reveal any disparity to normal controls. The analysis of cells from the ejaculate showed cells in all meiotic stages with pairing anomalies and a high percentage of polyploid germ cells including endoreduplicated metaphase I chromosomes. Most of the sperm were morphologically deviant with irregular large and/or binucleated heads and a variable number of up to 8 tails. To the best of our knowledge such a combination of meiotic disturbances has not been reported so far and points to a defect confined to the meiotic prophase, especially the S-phase

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