Ipoparatiroidismo: forme genetiche
摘要
In the context of non-surgical hypoparathyroidism, genetically determined forms represent a large group of disorders, the identification of which over the last 25 years has also allowed for understanding of the molecular basis of parathyroid development and fine functioning. Many of these syndromes may not be clinically manifest at birth or in childhood, but may appear in adults. Careful clinical assessment and appropriate genetic screening may provide a specific diagnosis and guide towards the most suitable treatment.