2020 Volume 63 Issue 2 Pages 56-62
Turner syndrome (TS) is a chromosomal abnormality attributed to a total or partial loss of the X chromosome. While TS is characterized clinically by short stature and primary ovarian insufficiency, those with a deletion of Xq often have ovarian insufficiency but no other features of TS. We herein report a case of a young adult patient with Xq partial deletion accompanied by diabetes mellitus. The patient was a 30-year-old woman who had begun hormone replacement therapy for primary ovarian insufficiency with a diagnosis of TS at 16 years of age. She was admitted to our hospital because her fasting blood sugar and HbA1c had increased to 212 mg/dL and 10.4 %, respectively. A physical examination revealed no short stature, but she was overweight, with a body mass index of 28.3 kg/m2. Her anti-GAD antibody titer was negative, and he urine C-peptide level was 76.3 μg/day. Diet restriction, exercise, and the administration of metformin and dulaglutide improved her glucose level. Karyotype determination revealed the partial deletion of the long arm. TS patients have a high prevalence of diabetes mellitus, but whether or not TS patients with Xq deletion are prone to diabetes mellitus is still unknown. This case suggests that even TS patients with an atypical phenotype and karyotype should receive ongoing care with monitoring for comorbidities.
