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Endocrinology - Pediatric Endocrinology
A 10-year-old boy presented with symptoms including reduced activity, excessive sleep, increased appetite, rapid weight gain, and frequent tonic-clonic seizures. He had been evaluated at a local hospital a year ago, where he was diagnosed with low blood sugar due to adrenal insufficiency and started on hydrocortisone treatment. However, his hypoglycemic symptoms persisted despite increasing the hydrocortisone dose. He also had a history of surgery to repair a ventricular septal defect. Notably, he displayed physical characteristics indicative of trisomy 21 (Down syndrome) and a cushingoid appearance. His weight was 55 kg, height was 131 cm, and his body mass index was 32.2 kg/m². He was admitted for further investigation, during which he was subjected to a controlled fasting period due to his frequent hypoglycemic episodes. Over a few weeks, his hydrocortisone dosage was gradually reduced. Additional tests revealed normal insulin-like growth factor levels, an HbA1c of 4.0%, a karyotype of 47XY+21 (indicative of trisomy 21), and no MEN1 gene mutation.
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