A case of Type 1 Diabetes Mellitus with Klinefelter’s Syndrome

Abstract

Type 1 diabetes mellitus (T1DM) is a model of chronic autoimmune disease beginning with genetic susceptibility in affected individuals and progressing to autoimmune destruction of β cells, precipitated by environmental insult. Some of the patients with T1DM have associated genetic disorders, such as Klinefelter’s syndrome (KS), Down’s syndrome and Turner’s syndrome. This paper reports a case of T1DM accompanied by KS. The patient was a 14-year-old male who had been confirmed by absolute insulin deficiency and positive glutamic acid decarboxylase antibody (GADA). After chromosome analysis was performed because of the delay in his puberty, he was diagnosed with Klinefelter’s syndrome, 47 XXY karyotype, at his follow-up.