48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis
Identifieur interne : 004E65 ( Main/Exploration ); précédent : 004E64; suivant : 004E6648XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis
Auteurs : Baha Zantour [Tunisie] ; Mohamed Habib Sfar [Tunisie] ; Samia Younes [Tunisie] ; Wafa Alaya [Tunisie] ; Mahdi Kamoun [Tunisie] ; Emna Mkaouar [Tunisie] ; Saida Jerbi [Tunisie]Source :
- Case Reports in Medicine [ 1687-9627 ] ; 2010.
Abstract
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.
Url:
DOI: 10.1155/2010/612315
PubMed: 20827436
PubMed Central: 2934777
Affiliations:
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type="main">48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis</title><author><name sortKey="Zantour, Baha" sort="Zantour, Baha" uniqKey="Zantour B" first="Baha" last="Zantour">Baha Zantour</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia</nlm:aff><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100</wicri:regionArea><wicri:noRegion>Mahdia 5100</wicri:noRegion></affiliation></author><author><name sortKey="Sfar, Mohamed Habib" sort="Sfar, Mohamed Habib" uniqKey="Sfar M" first="Mohamed Habib" last="Sfar">Mohamed Habib Sfar</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia</nlm:aff><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100</wicri:regionArea><wicri:noRegion>Mahdia 5100</wicri:noRegion></affiliation></author><author><name sortKey="Younes, Samia" sort="Younes, Samia" uniqKey="Younes S" first="Samia" last="Younes">Samia Younes</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia</nlm:aff><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100</wicri:regionArea><wicri:noRegion>Mahdia 5100</wicri:noRegion></affiliation></author><author><name sortKey="Alaya, Wafa" sort="Alaya, Wafa" uniqKey="Alaya W" first="Wafa" last="Alaya">Wafa Alaya</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100, 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Medicine, Avenue Majida BOULILA, Sfax 3029, Tunisia</nlm:aff><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Molecular Human Genetics, Faculty of Medicine, Avenue Majida BOULILA, Sfax 3029</wicri:regionArea><wicri:noRegion>Sfax 3029</wicri:noRegion></affiliation></author><author><name sortKey="Jerbi, Saida" sort="Jerbi, Saida" uniqKey="Jerbi S" first="Saida" last="Jerbi">Saida Jerbi</name><affiliation wicri:level="1"><nlm:aff id="I3">Department of Radiology, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia</nlm:aff><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Radiology, Tahar Sfar Hospital, Hiboune, Mahdia 5100</wicri:regionArea><wicri:noRegion>Mahdia 5100</wicri:noRegion></affiliation></author></analytic><series><title level="j">Case Reports in Medicine</title><idno type="ISSN">1687-9627</idno><idno type="eISSN">1687-9635</idno><imprint><date 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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.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="S Rensen, K" uniqKey="S Rensen K">K Sørensen</name></author><author><name sortKey="Nielsen, J" uniqKey="Nielsen J">J Nielsen</name></author><author><name sortKey="Jacobsen, P" uniqKey="Jacobsen P">P Jacobsen</name></author><author><name sortKey="R Lle, T" uniqKey="R Lle T">T Rølle</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Muldal, S" uniqKey="Muldal S">S Muldal</name></author><author><name sortKey="Ockey, Ch" uniqKey="Ockey C">CH Ockey</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Parker, Ce" uniqKey="Parker C">CE Parker</name></author><author><name sortKey="Mavalwala, J" uniqKey="Mavalwala J">J Mavalwala</name></author><author><name sortKey="Melnyk, 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first="Saida" last="Jerbi">Saida Jerbi</name><name sortKey="Kamoun, Mahdi" sort="Kamoun, Mahdi" uniqKey="Kamoun M" first="Mahdi" last="Kamoun">Mahdi Kamoun</name><name sortKey="Mkaouar, Emna" sort="Mkaouar, Emna" uniqKey="Mkaouar E" first="Emna" last="Mkaouar">Emna Mkaouar</name><name sortKey="Sfar, Mohamed Habib" sort="Sfar, Mohamed Habib" uniqKey="Sfar M" first="Mohamed Habib" last="Sfar">Mohamed Habib Sfar</name><name sortKey="Younes, Samia" sort="Younes, Samia" uniqKey="Younes S" first="Samia" last="Younes">Samia Younes</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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