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A man with 47,XYY karyotype, prolactinoma and a history of first trimester recurrent miscarriages in his wife.

TitleA man with 47,XYY karyotype, prolactinoma and a history of first trimester recurrent miscarriages in his wife.
Publication TypeJournal Article
Year of Publication2011
AuthorsZouli, C., Tsametis C., Papadimas I., & Goulis D. G.
JournalHormones (Athens)
Volume10
Issue1
Pagination72-5
Date Published2011 Jan-Mar
ISSN1109-3099
KeywordsAbortion, Habitual, Adult, Female, Humans, Infertility, Male, Karyotyping, Male, Pituitary Neoplasms, Pregnancy, Pregnancy Trimester, First, Preimplantation Diagnosis, Prolactinoma, Reproductive History, Sex Chromosome Disorders, XYY Karyotype
Abstract

UNLABELLED: 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.

Alternate JournalHormones (Athens)
PubMed ID21349809

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