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Frontiers of Hormone Research

Giovanna Mantovani, Francesca M Elli
Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels...
2019: Frontiers of Hormone Research
Gemma Marcucci, Maria Luisa Brandi
The treatment of hypoparathyroidism depends on the severity of hypocalcemia, how rapidly the hypocalcemia developed, and the symptomatology. Chronic hypoparathyroidism is usually treated with oral supplementations, including calcium, calcitriol, or other active vitamin D analogs, and at times, thiazide diuretics. Although the standard therapy can adequately control patients with this disease, sometimes very high doses are required to maintain serum calcium levels in the normal range, with poor compliance and risk of long-term complications...
2019: Frontiers of Hormone Research
Gemma Marcucci, Maria Luisa Brandi
Several studies have investigated replacement therapy with recombinant human parathyroid hormone [rhPTH(1-84)] for patients affected by chronic hypoparathyroidism who are not adequately controlled with standard treatment. In 2015, the Food and Drug Administration (FDA) in the USA approved rhPTH(1-84), named Natpara®, for the pharmacological management of hypoparathyroidism. In Europe, in February 2017, the European Medicines Agency (EMA) recommended granting a conditional marketing authorization in the European Union for rhPTH(1-84)...
2019: Frontiers of Hormone Research
Yasser Hakami, Aliya Khan
The regulation of plasma calcium levels is essential for the normal physiologic function of every cell. Parathyroid hormone (PTH) is the principal regulator of serum calcium and phosphate homeostasis. PTH is synthesized and secreted by the parathyroid chief cells in the parathyroid glands primarily in response to a decline in serum calcium levels. The causes of hypocalcemia can be broadly classified as inadequate PTH or vitamin D production, PTH resistance, or miscellaneous causes. The term "hypoparathyroidism" refers to a metabolic disorder in which hypocalcemia and hyperphosphatemia occur either from a failure of the parathyroid glands to secrete sufficient amounts of biologically active PTH, or from an inability of PTH to appropriately induce a biological response in its target tissues...
2019: Frontiers of Hormone Research
Sabrina Corbetta
Parathyroid hormone (PTH) disorders are characterized by a wide spectrum of clinical and biochemical presentations. The increasing use of serum PTH assay in the set of the diagnostic workout in patients with osteoporosis has identified patients with features of surgically confirmed primary hyperparathyroidism (PHPT) associated with persistent normal serum calcium levels, which has been recognized as a distinct entity from hypercalcemic PHPT (HPHPT) by the last international consensus. Normocalcemic PHPT (NPHPT) affects about 6-8% of PHPT patients...
2019: Frontiers of Hormone Research
David Goltzman
Primary hyperparathyroidism is among the most common causes of hypercalcemia. However, ingestion of medication, including hydrochlorathiazide, lithium, and foscarnet, excessive vitamin A ingestion, endocrinopathies such as hyperthyroidism, adrenal insufficiency, and acromegaly, abnormal nutrient intake such as parenteral nutrition in preterm infants and milk-alkali syndrome, and prolonged immobilization have all been associated with hypercalcemia. The most common cause of nonparathyroid hypercalcemia is neoplasia...
2019: Frontiers of Hormone Research
Filomena Cetani, Elena Pardi, Claudio Marcocci
Parathyroid carcinoma (PC) is a rare endocrine malignancy, accounting for <1% of all cases of sporadic primary hyperparathyroidism (PHPT) and up to 15% in the hereditary hyperparathyroidism-jaw tumor syndrome. Genomic alterations identified in PC are mostly represented by CDC73 gene mutations, codifying for a loss-of-function protein termed parafibromin. Whole exome sequencing identified mutations in other genes, such as mTOR, KMT2D, CDKN2C, THRAP3, PIK3CA, and EZH2 genes, CCND1 gene amplification. The diagnosis of PC is quite difficult due to the lack of reliable clinical diagnostic criteria, and in the majority of cases is made postoperatively at histological examination...
2019: Frontiers of Hormone Research
Bart L Clarke
Asymptomatic primary hyperparathyroidism has become the most common presentation of primary hyperparathyroidism in Europe and North America, and an increasingly common presentation in other parts of the world. As many as 25% of asymptomatic patients may develop indications for parathyroidectomy when followed long-term for up to 15 years. Patients who remain asymptomatic should be monitored for the development of complications that justify surgery. Patients who become symptomatic should be referred for surgery...
2019: Frontiers of Hormone Research
Letizia Vannucci, Maria Luisa Brandi
Familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) are genetically determined variants of primary hyperparathyroidism. FHH usually has a benign course, and patients do not require treatment, whereas NSHPT is a severe disorder often requiring early parathyroidectomy for young patients to survive. Recent discoveries in the genetic basis and new findings in therapeutic approaches have led to a great interest in these rare diseases.
2019: Frontiers of Hormone Research
Francesca Giusti, Maria Luisa Brandi
Parathyroid hormone (PTH) is one of the major hormones that regulates serum calcium. Hypoparathyroidism occurs when PTH secretion is insufficient. The main symptoms of hypoparathyroidism are the result of low blood calcium levels, hypocalcemia, which interferes with normal muscle contraction and nerve conduction. As a result, people with hypoparathyroidism can experience paresthesia, an unpleasant tingling sensation around the mouth and in the hands and feet, as well as muscle cramps and severe spasms known as "tetany" that affect the hands and feet...
2019: Frontiers of Hormone Research
F Cetani, F Saponaro, S Borsari, C Marcocci
Individuals with a familial predisposition to the development of parathyroid tumors constitute a small minority of all patients with primary hyperparathyroidism (PHPT). These familial syndromes exhibit Mendelian inheritance patterns and the main causative genes in most families have been identified. They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonatal severe PHPT...
2019: Frontiers of Hormone Research
Luisella Cianferotti
The term hypoparathyroidism encompasses a huge group of disorders all characterized by an abnormal mineral homeostasis determined by inadequate secretion of parathyroid hormone. Postsurgical hypoparathyroidism is a complication of neck surgery (thyroidectomy, parathyroidectomy, lymph node, and cancer neck dissection), closely related to the extent of the surgical procedure and the experience of the surgeon. If lasting more than 6 months it is defined as chronic hypoparathyroidism, requiring life-long replacement therapy with active vitamin D metabolites...
2019: Frontiers of Hormone Research
Piergiorgio Messa, Carlo Maria Alfieri
Secondary hyperparathyroidism (SHP) is a frequent complication of kidney diseases. At variance with all the other forms of SHP, which are compensatory conditions, renal SHP has many pathogenetic peculiarities, which have been only in part defined. Furthermore, in the long course of chronic kidney diseases (CKD), SHP sometimes transforms into a hypercalcemic condition resembling the autonomous form of hyperparathyroidism (tertiary hyperparathyroidism; THP). The clinical consequences of SHP in CKD patients are manifold, encompassing not only bone and mineral disorders, but also other metabolic and organic changes which frequently burden these patients...
2019: Frontiers of Hormone Research
Laura Masi
The 4 parathyroid glands derive from the third and fourth pharyngeal pouches and descend caudally to the anterior neck. Through the secretion of parathyroid hormone (PTH), the parathyroid glands are primarily responsible for maintaining extracellular calcium and phosphorus concentrations. Hypercalcemia may be distinguished in parathyroid-hypercalcemia and nonparathyroid hypercalcemia. The most common disorders include primary hyperparathyroidism (PHPT), malignancy, granulomatous diseases, and medications. PHPT is a disease characterized by excessive secretion of PTH...
2019: Frontiers of Hormone Research
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2019: Frontiers of Hormone Research
Dragana Miljić, Vera Popovic
Prevalence of metabolic syndrome (MetS) and mortality rates from cardiovascular causes are increased in patients with hypopituitarism. Features of obesity, visceral adiposity, dyslipidemia, insulin resistance, and hypertension are common in these patients. Unreplaced growth hormone (GH) deficiency and inadequate replacement of other hormone insufficiencies may be responsible for the adverse body composition and metabolic profile associated with hypopituitarism. Recently, fatty liver disease was added to this unfavorable metabolic phenotype...
2018: Frontiers of Hormone Research
Sabrina Corbetta, G Mantovani, A Spada
Parathyroid glands are the main regulator of body mineral metabolism through parathormone (PTH) actions on bone and kidney. Experimental evidence suggests that PTH may have non-classical target organs such as adipose tissue, arterial vascular wall, cardiac muscle cells, and adrenal cortex cells, where it may play a role in controlling body energy, blood pressure, and metabolism. Cardiometabolic features have been investigated in the wide spectrum of clinical parathyroid disorders, from hyperparathyroidism to pseudohypoparathyroidism and hypoparathyroidism...
2018: Frontiers of Hormone Research
Giulia Rastrelli, Sandra Filippi, Alessandra Sforza, Mario Maggi, Giovanni Corona
Metabolic syndrome (MetS) and hypogonadism (HG) are frequently comorbid. In this review, we summarize interconnections between the construct of MetS and the presence of HG, as well as the effect of specific treatments for each condition on this association. Data from meta-analytic studies suggest a bidirectional pathogenic relationship. In fact, reduced T (-2.21 [-2.43 to -1.98] nmol/L) at baseline predicts incident MetS. On the other hand, MetS at study entry increases the risk of developing HG (OR 2.46 [1...
2018: Frontiers of Hormone Research
Moisés Mercado, Claudia Ramírez-Rentería
Diabetes is recognized as one of the most common acromegaly co-morbidities with a prevalence ranging 20-53%, while over one-third of these patients have an altered lipid profile. In fact, as in the non-acromegalic population, carbohydrate and lipid metabolism abnormalities are closely linked. Long term exposure to an excess of growth hormone (GH) and Insulin-like growth factor-1 concentrations results in insulin resistance and an increased hepatic glucose production. The lipolytic effect of GH results in the mobilization of free fatty acids that further contributes to the decreased insulin sensitivity found in these patients...
2018: Frontiers of Hormone Research
K Alexander Iwen, Rebecca Oelkrug, Hannes Kalscheuer, Georg Brabant
Cardiometabolic risk factors like abdominal obesity, hyperglycemia, low high-density lipoprotein (HDL) cholesterol, elevated triglycerides, and hypertension are defined as metabolic syndrome (MetS), which represents one of the most frequent endocrine disorders particularly in a society with increasing weight problems. As more and more evidence is accumulated that thyroid hormones affect components of the MetS, the present review aims to summarize the rapidly expanding knowledge on the pathophysiological interaction between thyroid hormone status and MetS...
2018: Frontiers of Hormone Research
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