Genetic Disorders of Parathyroid Development and Function

• Autores: Rebecca J. Gordon, Michael A. Levine
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 47, Nº. 4, 2018 (Ejemplar dedicado a: Hypoparathyroidism), págs. 809-823
• Idioma: inglés
• Texto completo no disponible (Saber más ...)
• Resumen

  • Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia and is due to insufficient levels of circulating parathyroid hormone. Hypoparathyroidism may be an isolated condition or a component of a complex syndrome. Although genetic disorders are not the most common cause of hypoparathyroidism, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone, or postnatal destruction of the parathyroid glands.