Familial Hyperparathyroidism: A Diagnostic and Treatment Challenge in Saudi Arabia

Familial hyperparathyroidism is a rare, inherited endocrine disorder characterized by abnormally elevated serum calcium due to increased parathyroid hormone levels. In this case report, we present a two-day-old male newborn who was admitted with severe respiratory distress, hyperparathyroidism, and hypercalcemia with a family history of hyperparathyroidism in his two siblings, both diagnosed in childhood and treated with parathyroidectomy. He was diagnosed with familial hyperparathyroidism without other endocrinopathies. His left parathyroid glands were surgically removed, and post-operatively, his parathyroid hormones and calcium levels normalized. Pathological examination of the removed parathyroid glands confirmed parathyroid hyperplasia. This is a successfully managed case of familial hyperparathyroidism in the neonatal period. Therefore, as the patient grows up, a close follow-up is recommended for early detection and managing multiple endocrine neoplasia type 1 that may be present later in life.