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

      case-report

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          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.

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          Most cited references19

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          The positive and negative syndrome scale (PANSS) for schizophrenia.

          L Opler, Jennifer Kay, Paul Opler … (1986)
          The variable results of positive-negative research with schizophrenics underscore the importance of well-characterized, standardized measurement techniques. We report on the development and initial standardization of the Positive and Negative Syndrome Scale (PANSS) for typological and dimensional assessment. Based on two established psychiatric rating systems, the 30-item PANSS was conceived as an operationalized, drug-sensitive instrument that provides balanced representation of positive and negative symptoms and gauges their relationship to one another and to global psychopathology. It thus constitutes four scales measuring positive and negative syndromes, their differential, and general severity of illness. Study of 101 schizophrenics found the four scales to be normally distributed and supported their reliability and stability. Positive and negative scores were inversely correlated once their common association with general psychopathology was extracted, suggesting that they represent mutually exclusive constructs. Review of five studies involving the PANSS provided evidence of its criterion-related validity with antecedent, genealogical, and concurrent measures, its predictive validity, its drug sensitivity, and its utility for both typological and dimensional assessment.
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            Sex chromosome tetrasomy and pentasomy.

            M Linden, B Bender, A. Robinson (1995)
            Sex chromosome abnormalities occur in at least 1 in 400 births and include the well-described 47,XXX, 47,XXY, 47,XYY, and 45,X karyotypes. The addition of more than one extra X or Y chromosome occurs rarely, and little information is available in the medical literature. Individual case reports make up most of this body of knowledge, and all are based on subjects who identified themselves postnatally. Many were ascertained through screenings of institutions and hospitals; thus, there is no unbiased information on the natural history of poly X and Y karyotypes. A direct relationship between the number of additional sex chromosomes and the severity of the phenotype is generally assumed. The purpose of this article is to summarize what is known about these conditions and to present 10 additional cases. The karyotypes include, 48,XXXX, 49,XXXXX, 48,XXYY, 48,XXXY, 49,XXXXY, 49,XXXYY, 48,XYYY, 49,XYYYY, and 49,XXYYY.
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              Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

              Jeannie Visootsak, John M Graham (2009)
              Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed specific impairments in verbal skills and social functioning. Males with sex chromosomal aneuploidies are known to have variability in their developmental profile with the majority presenting with expressive language deficits. As a consequence of language delays, they have an increased likelihood of language-based learning disabilities and social-emotional problems that may persist through adulthood. Studies on males with 47,XXY have revealed unique behavioral and social profiles with possible vulnerability to autistic traits. The prevalence of males with more than one extra sex chromosome (e.g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Case Rep Genet
                Journal ID (iso-abbrev): Case Rep Genet
                Journal ID (publisher-id): CRIG
                Title: Case Reports in Genetics
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 2090-6544
                ISSN (Electronic): 2090-6552
                Publication date (Print): 2015
                Publication date (Electronic): 5 May 2015
                Volume: 2015
                Electronic Location Identifier: 950574
                Affiliations
                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
                Author notes

                Academic Editor: Philip D. Cotter

                Article
                DOI: 10.1155/2015/950574
                PMC ID: 4436470
                SO-VID: 3a8fa638-c567-4507-8079-055032d39858
                Copyright © Copyright © 2015 Sefa Resim et al.
                License:

                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.

                History
                Date received : 10 March 2015
                Date accepted : 27 April 2015
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Genetics
                Data availability:
                ScienceOpen disciplines: Genetics

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