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Genetic disorders of parathyroid development and function Key points: Hypoparathyroidism can be an isolated endocrine disorder or part of a complex syndrome Genetic defects account for disorders of parathyroid gland formation, dysregulation of parathyroid hormone synthesis or secretion, and autoimmune destruction of the parathyroid glands
Hypoparathyroidism: Symptoms Treatment - Cleveland Clinic Hypoparathyroidism is a rare but treatable condition that causes low levels of calcium in your blood Damage to your parathyroid glands during surgery and certain genetic and autoimmune diseases can cause it Treatment usually involves calcium and vitamin D supplements
Hypoparathyroidism - StatPearls - NCBI Bookshelf The initial assessment of hypoparathyroidism not only includes a comprehensive history and evaluation of clinical signs and symptoms but also the identification of secondary complications that may have developed In most patients, hypoparathyroidism is clinically apparent in patients who become symptomatic immediately following neck surgery
Hypoparathyroidism - Symptoms causes - Mayo Clinic Hypoparathyroidism is a rare condition in which the body doesn't make enough of a key hormone called parathyroid hormone (PTH) PTH helps control and maintain the right balance of two minerals in the body: calcium and phosphorus With hypoparathyroidism, too little PTH leads to unusually low levels of calcium in the blood It also leads to high levels of phosphorous in the blood
Types Causes of HypoPARAthyroidism Genetic HypoPARAthyroidism Symptoms of genetic hypoPARA present in the first few years of life, absent surgical causes There is often a family history of the condition Genetic hypoPARA may be part of a syndrome involving other organs or tissues, such as: DiGeorge Syndrome Kenny-Caffey Syndrome Autoimmune Polyglandular Syndrome (APS-1) Pearson
Hypoparathyroidism: Genetics and Diagnosis - PubMed Several genetic disorders can present with hypoparathyroidism, either as an isolated disease or as part of a syndrome A positive family history and, in the case of complex diseases, characteristic comorbidities raise the clinical suspicion of a genetic disorder
Hypoparathyroidism – My Endo Consult GENETIC CAUSES OF HYPOPARATHYROIDISM Abnormal Parathyroid Development X-linked or autosomal recessive mutations (e g , GCM2 gene, encoding a key transcription factor) PreproPTH Gene Mutations Defects in the PTH precursor protein → no biologically active PTH Autosomal Dominant Activating Mutations of the CaSR Lower calcium set point for PTH release → PTH not secreted until hypocalcemia is
Parathyroid Hormone: Related Conditions, Symptoms Treatment Hypoparathyroidism Hypoparathyroidism occurs when the parathyroid glands produce insufficient PTH, resulting in low calcium levels in the blood This condition can be caused by damage to the parathyroid glands, autoimmune disorders, or genetic factors Surgical removal of the thyroid or parathyroid glands can also lead to this condition