49, xxxxy syndrome with autoimmune diabetes and ocular manifestations

ABSTRACT

We report a rare case of 49,XXXXY syndrome with autoimmune diabetes [requiring insulin therapy], bilateral cataracts and unilateral glaucoma. A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropichypogonadism. 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 antiglutamic acid decarboxylase autoantibody levels were elevated. Karyotype analysis revealed 49,XXXXY. Intensive insulin therapy and testosterone replacements were started. 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