Abstract

This review provides an update on hypoparathyroidism (HPT), focusing on the major aspects of diagnosis, clinical manifestations and management of patients with hypocalcaemia due to HPT. Recent advances in the understanding of the physiologic actions of parathormone (PTH) and vitamin D, and the application of molecular genetics, have clarified certain aspects of the pathogenesis, classification, diagnosis and management of HPT. PTH promotes bone resorption, decreases urinary calcium excretion, enhances the conversion of 25-hydroxyvitamin D to 1, 25-dihydroxyvitamin D and increases intestinal calcium absorption and phosphate renal excretion. Understanding the molecular cause of the disease in patients and their families has the potential for proper tailoring of genetic counselling, family screening and treatment. Signs and symptoms may be associated not only with the severity, chronicity and therapeutic endpoints in HPT but also with the different causes of the disease. Hypocalcaemia may be an asymptomatic laboratory finding or a life-threatening metabolic disturbance. Although the therapy of acute hypocalcaemia is usually readily accomplished, chronic hypocalcaemia remains a very difficult treatment problem. Replacement therapy with PTH could be a therapeutic option for refractory HPT.

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