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Abstract #24619 Published in IGR 11-4
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations
Pamuk BO; Torun AN; Kulaksizoglu M; Algan C; Ertugrul DT; Yilmaz Z; Tutuncu NB; Demirag NGMedical Principles and Practice 2009; 18: 482-485
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.
B. O. Pamuk. Department of Endocrinology and Metabolic Disease, Faculty of Medicine, Baskent University, 5th Street No: 48, Bahcelievler, TR-06490 Ankara, Turkey. bopamuk@yahoo.com
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
