Bilateral genu valgum: an unusual presentation of juvenile primary hyperparathyroidism

Primary hyperparathyroidism is a generalized disorder of bone and mineral metabolism caused by autonomous secretion of parathyroid hormone. It is primarily seen in adults with typical age of presentation between third and fifth decades of life. Juvenile hyperparathyroidism is a rare disorder. The common presentations in order of incidence are fatigue and lethargy, headache, nephrolithiasis, nausea, abdominal pain, vomiting and polydipsia. Though skeletal symptoms include bone pains and fractures, but the presence of limb deformity is atypical. We report a case of young girl who presented with isolated progressive genu valgum of both lower limbs and pigeon-shaped chest deformity. She was found to have hypercalcemia and hypophosphatemia with raised parathyroid hormone levels. The neck imaging showed a single adenoma in the left inferior parathyroid gland. The surgical removal of parathyroid adenoma was performed.