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49,XXXXY syndrome with autoimmune diabetes and ocular manifestations.

Abstract

OBJECTIVE

We report a rare case of 49,XXXXY syndrome with autoimmune diabetes (requiring insulin therapy), bilateral cataracts and unilateral glaucoma.

CLINICAL PRESENTATION AND INTERVENTION

A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. Ophthalmic examination revealed a polar cataract in both eyes and increased intraocular pressure in the left eye. The anti-islet cell antibody test was positive, and anti-glutamic acid decarboxylase autoantibody levels were elevated. Karyotype analysis revealed 49,XXXXY. Intensive insulin therapy and testosterone replacements were started.

CONCLUSION

The autoimmune nature of diabetes that we observed in our patient seems to be predisposed by hypogonadism. Cataract and glaucoma in this case seem to be the result of diabetes, and an association of these ocular manifestations with the syndrome 49,XXXXY seems unlikely.

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  • Authors+Show Affiliations

    ,

    Department of Endocrinology and Metabolism, Faculty of Medicine, Baskent University, TR-06490 Ankara, Turkey. bopamuk@yahoo.com

    , , , , , ,

    Source

    MeSH

    Adult
    Cataract
    Diabetes Mellitus, Type 1
    Glaucoma
    Hormone Replacement Therapy
    Humans
    Hypoglycemic Agents
    Insulin
    Intellectual Disability
    Karyotyping
    Klinefelter Syndrome
    Male
    Testosterone

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    19797926

    Citation

    Pamuk, Baris Onder, et al. "49,XXXXY Syndrome With Autoimmune Diabetes and Ocular Manifestations." Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, vol. 18, no. 6, 2009, pp. 482-5.
    Pamuk BO, Torun AN, Kulaksizoglu M, et al. 49,XXXXY syndrome with autoimmune diabetes and ocular manifestations. Med Princ Pract. 2009;18(6):482-5.
    Pamuk, B. O., Torun, A. N., Kulaksizoglu, M., Algan, C., Ertugrul, D. T., Yilmaz, Z., ... Demirag, N. G. (2009). 49,XXXXY syndrome with autoimmune diabetes and ocular manifestations. Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 18(6), pp. 482-5. doi:10.1159/000235899.
    Pamuk BO, et al. 49,XXXXY Syndrome With Autoimmune Diabetes and Ocular Manifestations. Med Princ Pract. 2009;18(6):482-5. PubMed PMID: 19797926.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - 49,XXXXY syndrome with autoimmune diabetes and ocular manifestations. AU - Pamuk,Baris Onder, AU - Torun,Ayse Nur, AU - Kulaksizoglu,Mustafa, AU - Algan,Cengiz, AU - Ertugrul,Derun Taner, AU - Yilmaz,Zerrin, AU - Tutuncu,Neslihan Bascil, AU - Demirag,Nilgun Guvener, Y1 - 2009/09/30/ PY - 2008/08/25/received PY - 2009/02/05/accepted PY - 2009/10/3/entrez PY - 2009/10/3/pubmed PY - 2010/2/2/medline SP - 482 EP - 5 JF - Medical principles and practice : international journal of the Kuwait University, Health Science Centre JO - Med Princ Pract VL - 18 IS - 6 N2 - OBJECTIVE: We report a rare case of 49,XXXXY syndrome with autoimmune diabetes (requiring insulin therapy), bilateral cataracts and unilateral glaucoma. CLINICAL PRESENTATION AND INTERVENTION: A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. Ophthalmic examination revealed a polar cataract in both eyes and increased intraocular pressure in the left eye. The anti-islet cell antibody test was positive, and anti-glutamic acid decarboxylase autoantibody levels were elevated. Karyotype analysis revealed 49,XXXXY. Intensive insulin therapy and testosterone replacements were started. CONCLUSION: The autoimmune nature of diabetes that we observed in our patient seems to be predisposed by hypogonadism. Cataract and glaucoma in this case seem to be the result of diabetes, and an association of these ocular manifestations with the syndrome 49,XXXXY seems unlikely. SN - 1423-0151 UR - https://www.unboundmedicine.com/medline/citation/19797926/49XXXXY_syndrome_with_autoimmune_diabetes_and_ocular_manifestations_ L2 - https://www.karger.com?DOI=10.1159/000235899 DB - PRIME DP - Unbound Medicine ER -