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


METHODS
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.


CONCLUSIONS
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.
Department of Endocrinology and Metabolism, Faculty of Medicine, Baskent University, TR-06490 Ankara, Turkey. bopamuk@yahoo.com
Baris Onder
BO
Pamuk
Ayse Nur
AN
Torun
Mustafa
M
Kulaksizoglu
Cengiz
C
Algan
Derun Taner
DT
Ertugrul
Zerrin
Z
Yilmaz
Neslihan Bascil
NB
Tutuncu
Nilgun Guvener
NG
Demirag
D000328:Adult; D002386:Cataract / Q000209:etiology; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005901:Glaucoma / Q000209:etiology; D020249:Hormone Replacement Therapy; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007328:Insulin / Q000627:therapeutic use; D008607:Intellectual Disability / Q000150:complications*; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000188:drug therapy; D008297:Male; D013739:Testosterone / Q000627:therapeutic use
D007004:Hypoglycemic Agents; D007328:Insulin; D013739:Testosterone