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49,XXXXY syndrome with autoimmune diabetes and ocular manifestations.
Med Princ Pract 2009; 18(6):482-5MP

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.

Authors+Show Affiliations

Department of Endocrinology and Metabolism, Faculty of Medicine, Baskent University, TR-06490 Ankara, Turkey. bopamuk@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -