{"title":"Normocalcemic Hyperparathyroidism.","authors":"Sabrina Corbetta","doi":"10.1159/000491036","DOIUrl":"https://doi.org/10.1159/000491036","url":null,"abstract":"<p><p>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. Although hypercalcemia is absent, patients with NPHPT experience kidney, bone, and cardiovascular impairments similar to those observed in HPHPT, suggesting that NPHPT may significantly affect the health of patients. Diagnosis of NPHPT requires an intensive diagnostic workup aimed to: (1) exclude all causes of secondary hyperparathyroidism, and (2) evaluate the occurrence of PTH-related diseases. The management of NPHPT is controversial in part due to lack of solid data about the natural history as well as the effects of surgical or medical treatments. Nonetheless, a clinical and biochemical follow-up is recommended in order to detect potential progression. When hypercalcemia and/or PTH-related disorders arise, parathyroidectomy can be considered. When surgery is not advisable, medical treatment aimed to increase bone mineral density may be a therapeutic option.</p>","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"23-39"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491036","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36862640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A New Era for Chronic Management of Hypoparathyroidism: Parathyroid Hormone Peptides.","authors":"Gemma Marcucci, Maria Luisa Brandi","doi":"10.1159/000491047","DOIUrl":"https://doi.org/10.1159/000491047","url":null,"abstract":"<p><p>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). Here we review the studies conducted with rhPTH(1-84) and PTH(1-34) in patients with chronic hypoparathyroidism. The research done in this field has shown that replacement treatment with rhPTH(1-84) is an important therapeutic option for subjects with chronic hypoparathyroidism who are not well controlled with conventional treatment. However, further long-term investigations are needed.</p>","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"165-171"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491047","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36862642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.","authors":"Letizia Vannucci, Maria Luisa Brandi","doi":"10.1159/000491038","DOIUrl":"https://doi.org/10.1159/000491038","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"52-62"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36863658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"In utero Androgen Excess: A Developmental Commonality Preceding Polycystic Ovary Syndrome?","authors":"D. Abbott, M. Kraynak, D. Dumesic, J. Levine","doi":"10.1159/000494899","DOIUrl":"https://doi.org/10.1159/000494899","url":null,"abstract":"In utero androgen excess reliably induces polycystic ovary syndrome (PCOS)-like reproductive and metabolic traits in female monkeys, sheep, rats, and mice. In humans, however, substantial technical and ethical constraints on fetal sampling have curtailed safe, pathogenic exploration during gestation. Evidence consistent with in utero origins for PCOS in humans has thus been slow to amass, but the balance now leans toward developmental fetal origins. Given that PCOS is familial and highly heritable, difficulties encountered in discerning genetic contributions to PCOS pathogenesis are puzzling and, to date, accounts for <10% of PCOS presentations. Unaccounted heritability notwithstanding, molecular commonality in pathogenic mechanisms is emerging, suggested by co-occurrence at the same gene loci of (1) PCOS genetic variants (PCOS women), (2) epigenetic alterations in DNA methylation (PCOS women), and (3) bioinformatics, gene networks-identified, epigenetic alterations in DNA methylation (female rhesus monkeys exposed to testosterone (T) in utero). In addition, naturally occurring hyperandrogenism in female monkeys singles out individuals with PCOS-like reproductive and metabolic traits accompanied by somatic biomarkers of in utero T exposure. Such phenotypic and molecular convergence between highly related species suggests not only dual genetic and epigenetic contributions to a developmental origin of PCOS but also common molecular pathogenesis extending beyond humans.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"53 1","pages":"1-17"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000494899","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65284843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Obesity and Androgens in Women.","authors":"R. Pasquali, Claudia Oriolo","doi":"10.1159/000494908","DOIUrl":"https://doi.org/10.1159/000494908","url":null,"abstract":"Androgen excess is often associated with obesity states, at any age of life, because of changes in the pattern of secretion or metabolism of androgens and in their actions at the level of target tissues, particularly the adipose tissue. Androgen excess plays an important role in favouring the expansion of visceral fat, which characterize so-called visceral obesity. Moreover, there is evidence that the combination of androgen excess and obesity may favour the development of metabolic disorders, such as the metabolic syndrome and type 2 diabetes. In obese adolescent girls, androgen excess may also suggest the potential development of the polycystic ovary syndrome (PCOS). A new hypothesis, based on long-term lifestyle intervention programs or bariatric surgery, supports the concept that a \"PCOS secondary to obesity\" may exist, as confirmed by the complete resolution of all features defining PCOS after considerable weight loss. Obesity can also develop after long-term exposure to chronic stress, which is characterized by increased activity of the hypothalamic-pituitary-adrenal axis and the sympathetic system combined with higher than normal androgen production rates in women. This increasingly observed condition, often underestimated, should be considered more carefully, not only in mature women but also in girls during adolescence. The presence of a hyperandrogenic state can also be detected in menopausal women, as a consequence of the rearrangement of the sex hormone balance which, in turn, may play some role in determining the development of both visceral adiposity and even obesity and, consequently, metabolic disorders. Undoubtedly, the recognition of the potential negative effects of androgen excess in obese women may open new therapeutic perspectives aimed at achieving a sustained weight loss and its maintenance for as long as possible.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"53 1","pages":"120-134"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000494908","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65285394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Androgens and Severe Insulin Resistance States: Basic and Clinical Aspects.","authors":"A. Gambineri, L. Zanotti, D. Ibarra-Gasparini","doi":"10.1159/000494911","DOIUrl":"https://doi.org/10.1159/000494911","url":null,"abstract":"Hyperandrogenism with or without polycystic ovary syndrome can be sustained by an extreme form of insulin resistance (IR), and is thus a secondary form of hyperandrogenism, which may be due to a defect in insulin signal transduction or in the adipose tissue. Severe IR due to adipose tissue dysfunction is the most frequent form, which may be the result of a deficiency in the adipose tissue, that is, the lipodystrophies, or to the unrestrained accumulation of adipose tissue. These forms are in some cases produced by a single-gene defect. The diagnosis remains predominantly clinical by examining patients in their underwear and looking out for clinical hallmarks, supported by biochemical biomarkers. Gene screening is necessary to corroborate the diagnosis of some forms. Clinicians who deal with hyperandrogenic disorders should be alerted to the forms that are secondary to severe IR, as they are not as uncommon as often imagined and frequently respond to tailored therapies.","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"53 1","pages":"177-186"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000494911","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65285541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Conventional Treatment of Hypoparathyroidism.","authors":"Gemma Marcucci, Maria Luisa Brandi","doi":"10.1159/000491046","DOIUrl":"https://doi.org/10.1159/000491046","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"160-164"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491046","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36862643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Familial and Hereditary Forms of Primary Hyperparathyroidism.","authors":"F Cetani, F Saponaro, S Borsari, C Marcocci","doi":"10.1159/000491037","DOIUrl":"https://doi.org/10.1159/000491037","url":null,"abstract":"<p><p>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. Each MEN type is associated with the various combinations of specific tumors. MEN1 is characterized by the occurrence of parathyroid, enteropancreatic, and pituitary tumors; MEN2A is characterized by medullary thyroid carcinoma and pheochromocytoma, and MEN4 is characterized by a pathological spectrum similar to that of MEN1 in association with tumors of the adrenal, kidney, and reproductive organs. HPT-JT is characterized by PHPT, ossifying fibromas of maxillary bones, kidney disease, and uterine neoplasias. The prompt diagnosis of these diseases is of great importance for planning appropriate surveillance of the mutant carriers and correct surgical management. The search for mutation is also useful for the identification of the family members who do not carry the mutation and can avoid unnecessary biochemical and instrumental evaluations. Surgery remains the treatment of choice in all familial forms except FHH.</p>","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"51 ","pages":"40-51"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000491037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36863656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exercise-Associated Hyponatremia.","authors":"Tamara Hew-Butler","doi":"10.1159/000493247","DOIUrl":"https://doi.org/10.1159/000493247","url":null,"abstract":"<p><p>Exercise-associated hyponatremia (EAH) refers to below-normal serum sodium concentrations [Na+] that develop during exercise. The pathogenesis of EAH is best described as a spectrum ranging between profound polydipsia to modest sweat sodium losses with hypovolemia and relative dilution. Non-osmotic arginine vasopressin (AVP) remains the unifying pathogenic stimulus to abnormal renal water retention in acute symptomatic EAH. Cases of hyponatremia are mostly reported after endurance sports, but are also observed after shorter duration events and in team sport athletes. The signs and symptoms of EAH are vague, and include bloating, vomiting, headache, and altered mental status. A diagnosis of EAH can only be confirmed by a blood test, whereas signs/symptoms guide the most appropriate treatment strategy. Mild-to-moderate EAH (without encephalopathy) can be treated with either fluid restriction or an oral bolus of a hypertonic saline solution. Severe EAH (with encephalopathy) is a life-threatening emergency and should be urgently treated with intravenous 100 mL boluses of 3% saline until the resolution of encephalopathy symptoms. The prevention of EAH is evolutionarily rooted in preventing overdrinking during exercise. Drinking according to the dictates of thirst is the most individualized strategy to prevent life-threatening dysnatremia during exercise, regardless of sport.</p>","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"52 ","pages":"178-189"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000493247","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37676589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chris J Thompson, Alessandro Peri, Joseph G Verbalis
{"title":"Historical Aspects of Hyponatremia.","authors":"Chris J Thompson, Alessandro Peri, Joseph G Verbalis","doi":"10.1159/000493216","DOIUrl":"https://doi.org/10.1159/000493216","url":null,"abstract":"In almost 2 decades since the onset of the 21st century, there has been an explosion in interest in hyponatremia, which has resulted in a marked increase in the number of publications on the topic. This is remarkable as there is no evidence that the incidence or prevalence of the condition is increasing. Unlike new diseases, such as antibioticresistant infections or complications of the effects of cancer therapy, hyponatremia has always been there. However, the increased interest in hyponatremia reflects an improved understanding of the effects of hyponatremia on both morbidity and mortality, and equally, a recognition of the large gaps in our knowledge of this area. The expansion in the potential ramifications of hyponatremia, on falls, fractures and osteoporosis, as well as its association with increased mortality has focused on how much more still needs to be done to prove the causal relationships and to ascertain the value of therapeutic intervention. This has resulted in an academic environment characterised by healthy debate – and occasional dispute – among groups involved in hyponatremia research, which is beneficial since it further invigorates interest in hyponatremia. As a result, there has been a steady rise in publications on the topic of hyponatremia since the 1940s ( Fig. 1 ). However, the current clinical and academic interests in hyponatremia are relatively recent. For many years, hyponatremia was a topic that did not generate enthusiasm among journal editors or granting agencies, and indeed, was not attached to a specific sub-discipline of medicine. A small number of endocrinologists and nephrologists nurtured research programs that contributed to gathering knowledge on hyponatremia, but the majority of hospitals had no specialists who developed services for hyponatremic patients, or who set standards for investigations and management of the condition. The evolution of our knowledge on the physiology of the control of Historical Aspects of Hyponatremia","PeriodicalId":50428,"journal":{"name":"Frontiers of Hormone Research","volume":"52 ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000493216","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37677563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}