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

作者：Zouli Chrisanthi^*; Tsametis Christos; Papadimas Ioannis; Goulis Dimitrios G

来源：Hormones-International Journal of Endocrinology and Metabolism, 2011, 10(1): 72-75.

DOI：10.14310/horm.2002.1295

• Fluorescent in-situ hybridization (FISH)
• Karyotype
• Pre-implantation genetic diagnosis
• Prolactinoma
• Recurrent miscarriage
• XYY syndrome

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.

• 出版日期2011-3