title: A man with 47,XYY karyotype, prolactinoma and a history of first trimester recurrent miscarriages in his wife.
abstract: The clinical and laboratory features as well as the diagnostic and therapeutic approach of men with XYY syndrome have not been fully described. A 41-year-old infertile man was diagnosed as having a 47,XYY karyotype and a micro-prolactinoma. His 32-year-old wife had a history of five spontaneous pregnancies, all resulting in first trimester miscarriages. Three in-vitro fertilization (IVF) attempts were made with no biochemical pregnancy. During the third attempt, a pre-implantation genetic diagnosis (PGD) was performed by fluorescent in-situ hybridization (FISH) technique. Only one out of six (16%) embryos had normal karyotype.
  
  
  CONCLUSIONS
  (1) Karyotypic analysis of both partners is a sine qua non investigation for recurrent miscarriages; (2) the XYY syndrome results in high frequency of embryo aneuploidy; (3) PGD by FISH can contribute to the transferring of chromosomally normal embryos in cases of parental chromosomal defects; (4) investigation for a prolactinoma should be considered in men with XYY syndrome.
authors.affiliation: Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece. zouli_chrisa@yahoo.gr
authors.forename: Chrisanthi
authors.initials: C
authors.lastname: Zouli
authors.forename: Christos
authors.initials: C
authors.lastname: Tsametis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papadimas
authors.forename: Dimitrios G
authors.initials: DG
authors.lastname: Goulis
mesh_terms: D000026:Abortion, Habitual / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D000328:Adult; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010911:Pituitary Neoplasms / Q000150:complications / Q000175:diagnosis*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D019836:Preimplantation Diagnosis; D015175:Prolactinoma / Q000150:complications / Q000175:diagnosis*; D017584:Reproductive History; D025064:Sex Chromosome Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D014997:XYY Karyotype / Q000175:diagnosis / Q000235:genetics