Syndromic Conundrums in Diabetes: Seek and Ye Shall Find: The Dorfman-Chanarin Syndrome

Case Presentation

A 15-year-old girl from the southern part of India presented to us with a history of recent detection of increased blood glucose levels. About 3 weeks earlier, she had had an episode of abdominal pain and vomiting that lasted for about 3 days, and she was treated elsewhere symptomatically. During that episode, she was found to have increased blood glucose levels, was given dietary advice, and was referred to us. In presenting to us, she did not have any abdominal pain, fever, or vomiting. There was no history of weight loss, polyuria, or polydipsia. She was conscious, well-oriented, and afebrile. There were no other specific complaints.

Even from her childhood, the girl had been hard of hearing and was prescribed hearing aids elsewhere. She was born to consanguineous parents; the girl’s parents were first cousins. The paternal grandmother had had diabetes and hypertension. She had 12 siblings, of whom only eight survived into adulthood. Of the grandmother’s surviving eight siblings, five had diabetes. The girl’s father had three sisters and one brother. Hearing was affected in the girl’s father and in his eldest sister, who also had diabetes. The girl’s mother (deceased) did not have a hearing defect or diabetes. The girl had an older sister who did not have hearing loss or diabetes (Figure 1). The girl’s developmental history showed a mild delay in language-related milestones. She attained menarche at 12 years and continued to have regular menstrual cycles, with excessive bleeding now and then, for which she took an oral combined pill (OCP) containing ethinyl estradiol and levonorgestrel, which was prescribed elsewhere.

On examination, the girl was thinly built with a BMI of 15 kg/m². Her blood pressure was 110/70 mmHg; …