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Case Reports in Genetics
Volume 2015 (2015), Article ID 950574, 4 pages
http://dx.doi.org/10.1155/2015/950574
Case Report

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

1Department of Urology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey
2Department of Urology, Nizip State Hospital, Gaziantep, Turkey
3Department of Psychiatry, Kahramanmaras State Hospital, Kahramanmaras, Turkey
4Department of Urology, Adiyaman University, Adiyaman, Turkey

Received 10 March 2015; Accepted 27 April 2015

Academic Editor: Philip D. Cotter

Copyright © 2015 Sefa Resim et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.