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Case Reports in Medicine
Volume 2010, Article ID 612315, 5 pages
Case Report

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

1Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia
2Department of Molecular Human Genetics, Faculty of Medicine, Avenue Majida BOULILA, Sfax 3029, Tunisia
3Department of Radiology, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia

Received 18 May 2010; Revised 11 July 2010; Accepted 29 July 2010

Academic Editor: Reinhard Bretzel

Copyright © 2010 Baha Zantour 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.


A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.