Endocrine Abstracts

The most common causes of hypoparathyroidism in children are the lack of or the impaired development of the parathyroid glands due to genetic/chromosomal alterations and the abnormal signaling of the Ca(2+)-sensing receptor (CaSR). The latter refers to autosomal dominant hypocalcemia (ADH) mainly caused by heterozygous activating mutations in CASR encoding CaSR (ADH type 1), and exceptionally caused by activating mutations of GNA11 encoding the Gq/11 protein (ADH ty...

Hypoparathyroidism is characterized by absent or low circulating concentrations of parathyroid hormone (PTH), which results in hypocalcaemia, hyperphosphataemia and impaired renal reabsorption of calcium. Hypoparathyroidism has a prevalence of ~20–40 cases per 100 000 individuals, and anterior neck surgery accounts for around 75% of cases. Postsurgical hypoparathyroidism may arise in patients undergoing total thyroidectomy, radical neck dissection for head and neck malign...

The spectrum of symptoms associated with hypoparathyroidism span from virtually none to severely debilitating fatigue, memory loss, muscle cramps, and paresthesia. Until recently disease management has focused on securing stable serum calcium values at the lower end of the reference range using potent active vitamin D analogues like Etalpha and Rocaltrol, together with calcium supplementation. Recently maintenance of adequate levels of 25(OH)D have also been mentioned as being...