Central Precocious Puberty, Functional And Tumor-Related
Publication date: Available online 22 January 2019Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Leandro Soriano-Guillén, Jesús ArgenteAbstractPrecocious puberty is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. Central precocious puberty (CPP) is diagnosed when activation of the hypothalamic-pituitary axis is identified. It is a rare disease with a clear female predominance. A background of international adoption increases its risk, with other environmental factors such as endocrine disruptor...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - January 23, 2019 Category: Endocrinology Source Type: research

IUGR: genetic influences, metabolic problems, environmental associations/triggers, current and future management
Publication date: Available online 22 January 2019Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Feyza DarendelilerAbstractThe children with intrauterine growth retardation (IUGR) especially if they make a catch-up growth in early life have a higher risk for long term problems including short stature and also developing metabolic syndrome, Type 2 diabetes, insulin resistance and cardiovascular diseases. The studies also support that these children may have abnormalities in pubertal timing, adrenarche and reproductive function. The aim of this review was to summarize the published rep...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - January 23, 2019 Category: Endocrinology Source Type: research

Male fertility preservation in DSD, XXY, pre-gonadotoxic treatments – update, methods, ethical issues, current outcomes, future directions
Publication date: Available online 23 January 2019Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Maria Grazia Giudice, Federico Del Vento, Christine WynsAbstractThis paper aims at reviewing the fertility preservation strategies that could be considered in several conditions at risk of spermatogonial depletion such as 46,XY disorders of sexual development, Klinefelter syndrome and after gonadotoxic treatment in males highlighting current knowledge on diseases and processes involved in infertility as well as future directions along with their specific ethical issues.While sperm cryopre...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - January 23, 2019 Category: Endocrinology Source Type: research

Editorial Board
Publication date: December 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 6Author(s): (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - January 20, 2019 Category: Endocrinology Source Type: research

Treatment of hypoparathyroidism
Publication date: Available online 6 December 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Francesco Tecilazich, Anna Maria Formenti, Stefano Frara, Raffaele Giubbini, Andrea GiustinaAbstractThe goal of the clinical management of hypoparathyroidism is to correct acute and chronic hypocalcemia. Treatment of acute hypoparathyroidism via intravenous infusion of Ca++ salts, is necessary only in symptomatic patients, or in asymptomatic patients in the setting of a rapid decrease in ionized Ca++ levels. The treatment cornerstones of chronic hypoparathyroidism are oral supplementation...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 7, 2018 Category: Endocrinology Source Type: research

The surgical management of sporadic primary hyperparathyroidism
Publication date: Available online 6 December 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Richard J. Egan, David M. Scott-CoombesAbstractSporadic primary hyperparathyroidism (pHPT) is the commonest cause of hypercalcaemia in the ambulatory population. It has a female preponderance and its incidence is increasing. In 85% of cases it is caused by a single parathyroid adenoma, with four gland hyperplasia in up to 20%. Parathyroidectomy is the only cure and bilateral neck exploration remains the gold standard to achieve this. Several adjuncts have been developed to improve success...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 7, 2018 Category: Endocrinology Source Type: research

Epidemiology of Parathyroid Disorders
Publication date: Available online 7 December 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Sudhaker D. RaoAbstractParathyroid disorders are not as uncommon as once believed. Both hyper- and hyperparathyroidism are more prevalent in women, but for different reasons. The female preponderance in primary hyperparathyroidism may be pathogenically linked, as it is more common after menopause. By contrast, higher prevalence of hypoparathyroidism in women is related to thyroid surgery, which is performed more commonly in women; thus the female to male ratio of hyper- and hypoparathyroi...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 7, 2018 Category: Endocrinology Source Type: research

Parathyroid Carcinoma
Publication date: Available online 1 December 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Antonio Stefano Salcuni, Filomena Cetani, Vito Guarnieri, Vincenzo Nicastro, Elisabetta Romagnoli, Danilo de Martino, Alfredo Scillitani, David EC. ColeAbstractParathyroid carcinoma (PC) is a rare disease with an indolent behavior due to the low malignant potential. The etiology is unknown. Somatic mutations of CDC73 gene, the same gene involved in the hyperparathyroidism-jaw tumor syndrome, can be identified in up to 70% of patients with PC and in one-third of cases the mutations are ger...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 2, 2018 Category: Endocrinology Source Type: research

Molecular pathogenesis of parathyroid tumours
Publication date: Available online 20 November 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Alfredo Scillitani, Vito GuarnieriAbstractParathyroid tumors represent an elusive endocrine neoplasia, which lead to primary hyperparathyroidism, pHPT, a common endocrine calcium disorder characterized by hypercalcemia and normal-high parathormone secretion. Parathyroid tumours are benign adenomas or multiple glands hyperplasia in the vast majority (>99% of cases), while malignant neoplasms are rare (less than 1%). Despite pHPT ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 21, 2018 Category: Endocrinology Source Type: research

Editorial Board
Publication date: October 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 5Author(s): (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 16, 2018 Category: Endocrinology Source Type: research

Pharmacology of medications used for ovarian stimulation
Publication date: Available online 12 November 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Alexander M. Quaas, Richard S. LegroAbstractMedications to stimulate the ovaries may be used to induce ovulation in patients with anovulatory infertility or to hyperstimulate the ovaries in a controlled fashion in ovulatory patients as part of assisted reproductive treatments (ART).The pharmacology of all current major medications used to stimulate ovarian function is reviewed in this article, including letrozole, clomiphene citrate, gonadotropins, and pulsatile gonadotropin releasing ho...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 14, 2018 Category: Endocrinology Source Type: research

The role of Natural Cycle IVF in assisted reproduction
Publication date: Available online 9 November 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Michael von WolffAbstractNatural Cycle IVF (NC-IVF) with and without modifications is being increasingly performed. NC-IVF and conventional gonadotropin-stimulated IVF (cIVF) should not be understood as competing treatments, but as complementary treatments with different target groups and to some extent other indications. NC-IVF is particularly interesting for couples who wish to save money, wish a treatment with as few risks as possible for the woman who would like to avoid selection and...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 11, 2018 Category: Endocrinology Source Type: research

Assisted reproduction in endometriosis
Publication date: Available online 3 November 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Dominique de Ziegler, Paul Pirtea, Marie Carbonnel, Marine Poulain, Ettore Cicinelli, Carlo Bulletti, Konstantinos Kostaras, George Kontopoulos, David Keefe, Jean Marc AyoubiAbstractEndometriosis – a disease causing pain and infertility – is encountered in nearly 50% of infertile women. While medical treatment is effective on pain and recurrence of symptoms after surgical excision, it is of no help for treating infertility for which the only options considered are surgery and ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 3, 2018 Category: Endocrinology Source Type: research

Towards complication-free assisted reproduction technology
Publication date: Available online 3 November 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Samuel Santos-Ribeiro, Shari Mackens, Annalisa Racca, Christophe BlockeelAbstractAssisted reproductive technology (ART) has vastly improved over the last 40 years, from a frequently unsuccessful and complicated procedure requiring hospital admission and routine laparoscopy to a fairly simple outpatient technique with relatively high success rates. However, it is important to stress that ART is not without risk and medical complications may still occur. The incidence of most of these ART-r...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 3, 2018 Category: Endocrinology Source Type: research

Chromatin condensation, fragmentation of DNA and differences in the epigenetic signature of infertile men
Publication date: Available online 3 November 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Monica Muratori, Christian De GeyterAbstractEpidemiological studies report an increase of pathologies of male reproductive tracts and suggest a link between this trend and the increased exposure of men to endocrine disruptors (EDs). The mechanisms by which EDs impact male fertility are far to be elucidated although DNA, chromatin and epigenome of spermatozoa appear to be relevant targets for these molecules. Indeed, many studies report associations between increased levels of sperm DNA fr...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 3, 2018 Category: Endocrinology Source Type: research

Cryostorage of testicular tissue and retransplantation of spermatogonial stem cells in the infertile male
Publication date: Available online 3 November 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Marc Kanbar, Francesca di Michele, Christine WynsAbstractTransplantation of own cryostored spermatogonial stem cells (SSCs) is a promising technique for fertility restoration when the SSC pool has been depleted.In this regard, cryopreservation of pre-pubertal testicular tissue or SSCs suspensions before gonadotoxic therapies is ethically accepted and increasingly proposed.SSC transplantation has also been considered to treat other causes of infertility relying on the possibility of propag...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 3, 2018 Category: Endocrinology Source Type: research

Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Eller-Vainicher Cristina, Falchetti AlbertoWhile primary hyperparathyroidism (PHPT) generally represents a common endocrine disorder, being the more frequent cause of hypercalcemia in outpatients, familial forms of PHPT (FPHPT) account for no more than 2–5% of the overall PHPT. In the last decades, many technical progresses in both molecular and biochemical-radiological evaluation have been made, and substantial advancements in understanding these disorders have been reached. Diff...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 16, 2018 Category: Endocrinology Source Type: research

Clinical presentation and management of hypoparathyroidism
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Gemma Marcucci, Luisella Cianferotti, Maria Luisa BrandiThe clinical manifestations of hypoparathyroidism are variable and can involve almost any organ system. The main clinical features of the hypoparathyroidism are typically signs or symptoms due to neuromuscular irritability owing to low serum calcium level. In addition to hypocalcemia, hyperphosphatemia can contribute to long-term complications, including extra-skeletal calcifications. Bone turnover markers are generally decreased, ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 11, 2018 Category: Endocrinology Source Type: research

Primary Hyperparathyroidism
Publication date: Available online 22 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Barbara C. Silva, Natalie E. Cusano, John P. BilezikianAbstractPrimary hyperparathyroidism (PHPT), the most common cause of hypercalcemia, is most often identified in postmenopausal women with hypercalcemia and parathyroid hormone (PTH) levels that are either frankly elevated or inappropriately normal. The clinical presentation of PHPT includes three phenotypes: target organ involvement of the renal and skeletal systems; mild asymptomatic hypercalcemia; and more recently, high PTH level...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Postmenopausal osteoporosis: Assessment and management
Publication date: Available online 22 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): René RizzoliOsteoporosis increases the risk of fractures, which are associated with increased mortality and lower quality of life. Patients with prevalent fracture are at high risk to of sustaining another one. Optimal protein and calcium intakes, and vitamin D supplies, together with regular weight bearing physical exercise are the corner stones of fracture prevention. Evidence for anti-fracture efficacy of pharmacological interventions relies on results from randomised controll...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Management of familial Hyperparathyroid syndromes: MEN1, MEN2, HPT-Jaw tumour, FHH, neonatal severe hyperparathyroidism, familial isolated hyperparathyroidism’
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Eller-Vainicher Cristina, Falchetti AlbertoAbstractWhile primary hyperparathyroidism (PHPT) generally represents a common endocrine disorder, being the more frequent cause of hypercalcemia in outpatients, familial forms of PHPT (FPHPT) account for no more than 2-5% of the overall PHPT. In the last decades, many technical progresses in both molecular and biochemical-radiological evaluation have been made, and substantial advancements in understanding these disorders have been reached. Di...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Management of Normocalcemic Primary Hyperparathyroidism
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Natalie E. Cusano, Cristiana Cipriani, John P. BilezikianAbstractTraditional hypercalcemic primary hyperparathyroidism is a common endocrine disease. Patients with a history of nephrolithiasis or a suspected metabolic bone disease are increasingly being identified with elevated PTH concentrations in the setting of consistently normal serum and ionized calcium concentrations. In the absence of secondary causes of hyperparathyroidism, a diagnosis of normocalcemic primary hyperparathyroidi...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Genetics of parathyroids disorders: overview
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Falchetti AlbertoAbstractSeveral familial forms of primary hyperparathyroidism (PHTP) have been discovered over the past 25 years, and molecular test for their risk assessment has been widely increasing. These syndromic and non-syndromic forms have received benefits from the identification of the responsible genes whose mutations account for the genetic susceptibility to develop parathyroid tumours as also other endocrine and nonendocrine tumours. In recent years, care options have been...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Non-surgical Management of Primary Hyperparathyroidism
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Filomena Cetani, Federica Saponaro, Claudio MarcocciAbstractThe purpose of this chapter is to discuss the options available for patients with primary hyperparathyrodism (PHPT) not undergoing parathyroidectomy (PTx). Adequate hydration should be recommended in all patients. Calcium intake should not be restricted and vitamin D deficiency should be corrected aiming at a serum concentration of 25OHD of>20 ng/mL or even higher (>30 ng/mL according to some opinion leaders). Pharmacolog...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

"Clinical presentation and management of hypoparathyroidism"
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Gemma Marcucci, Luisella Cianferotti, Maria Luisa BrandiAbstractThe clinical manifestations of hypoparathyroidism are variable and can involve almost any organ system. The main clinical features of the hypoparathyroidism are typically signs or symptoms due to neuromuscular irritability owing to low serum calcium level. In addition to hypocalcemia, hyperphosphatemia can contribute to long-term complications, including extra-skeletal calcifications. Bone turnover markers are generally dec...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Primary Hyperparathyroidism
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Barbara C. Silva, Natalie E. Cusano, John P. BilezikianAbstractPrimary hyperparathyroidism (PHPT), the most common cause of hypercalcemia, is most often identified in postmenopausal women with hypercalcemia and parathyroid hormone (PTH) levels that are either frankly elevated or inappropriately normal. The clinical presentation of PHPT includes three phenotypes: target organ involvement of the renal and skeletal systems; mild asymptomatic hypercalcemia; and more recently, high PTH level...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP Signaling Disorders (iPPSDs)
Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Francesca Marta Elli, Arrate Pereda, Agnès Linglart, Guiomar Perez de Nanclares, Giovanna MantovaniAbstractMetabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of target organs, in turn leading to manifestations similar to the deficiency of the hormone itself.Pseudohypoparathyroidism (PHP) and related disorders derive from a defect of the α subunit of the stimulatory G ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Vitamin D insufficiency: definition, diagnosis and management
Publication date: Available online 3 October 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Roger Bouillon, Geert CarmelietAbstractSevere vitamin D deficiency can be defined as the dose of vitamin D or serum 25OHD concentrations needed to prevent nutritional rickets or osteomalacia. There is large international consensus that these diseases can be prevented by 400 IU of vitamin D/d and 25OHD above 30 nmol/l (12 ng/ml). Vitamin D deficiency can also accelerate the risk of fractures and probably also of falls in elderly subjects but there is no consensus on the required daily doses...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research

Cryostorage and retransplantation of ovarian tissue as an infertility treatment
This study summarizes ovarian tissue cryopreservation and transplantation indications, procedures, their efficacy and main results and proposes different strategies to improve this strategy. Although the main focus of this study is on ovarian tissue cryopreservation and transplantation as a strategy to restore fertility, we believe that it is also important to discuss other applications for this approach. (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 13, 2018 Category: Endocrinology Source Type: research

The Endometrium During And After Ovarian Hyperstimulation And The Role Of Segmentation Of Infertility Treatment
Publication date: Available online 13 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Jorge Rodriguez-Purata, Nikolaos P. PolyzosAbstractControlled ovarian hyperstimulation (COH) is a key part of assisted reproductive technologies (ART) that resulted in a substantial increase in pregnancy rates from in vitro fertilization (IVF). However, in spite of the clear benefit of COH on an increase in the number of follicles and the number of oocytes retrieved, allowing for extended embryo culture and enabling the selection of the best quality embryo for transfer, several reports ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 13, 2018 Category: Endocrinology Source Type: research

Classical complications of primary hyperparathyroidism
Publication date: Available online 12 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Salvatore Minisola, Laura Gianotti, Sanjay Bhadada, Shonni J. SilverbergAbstractTraditionally, classical complications of primary hyperparathyroidism are mainly represented by skeletal, kidney and gastrointestinal involvement. The old picture of osteitis fibrosa cystica is no longer commonly seen, at least in the western world. However, new imagining techniques have highlighted deterioration of skeletal tissue in patients with primary hyperparathyroidism not captured by traditional DXA ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 12, 2018 Category: Endocrinology Source Type: research

Editorial Board
Publication date: August 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 4Author(s): (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 5, 2018 Category: Endocrinology Source Type: research

Causes and pathophysiology of hypoparathyroidism
Publication date: Available online 29 July 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Luisella Cianferotti, Gemma Marcucci, Maria Luisa BrandiAbstractHypoparathyroidism, a disorder characterized by hypocalcemia ensuing from inadequate parathyroid hormone secretion, is a rather rare disorder caused by multiple etiologies. When not caused by inadvertent damage or removal of the parathyroids during neck surgery, it is usually genetically determined. Epidemiological figures of this disease are still scarce and mainly limited to countries where non-anonymous databases are availabl...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 30, 2018 Category: Endocrinology Source Type: research

Preface
Publication date: Available online 27 March 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Anna Spada (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Pharmacogenetics of G-protein-coupled receptors variants: FSH receptor and infertility treatment
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Daniele Santi, Francesco Potì, Manuela Simoni, Livio CasariniInfertility treatment may represent a paradigmatic example of precision medicine. Follicle-stimulating hormone (FSH) has been proposed as a valuable therapeutic option both in males and in females, even if a standardized approach is far to be established. To date, several genetic mutations as well as polymorphisms have been demonstrated to significantly affect the pathophysiology of FSH-FSH receptor (FSHR) interaction, alth...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Aberrant G-protein coupled hormone receptor in adrenal diseases
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Matthieu St-Jean, Nada El Ghorayeb, Isabelle Bourdeau, André LacroixThe regulation of cortisol or aldosterone production when ACTH of pituitary origin or the renin-angiotensin systems are suppressed in primary adrenal Cushing's syndrome or in primary aldosteronism is exerted by diverse genetic and molecular mechanisms. In addition to recently identified mutations in various genes implicated in the cyclic AMP or ion channel pathways, steroidogenesis is not really autonomous as it is f...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Thyrotropin receptor, still much to be learned from the patients
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Claire Briet, Valentine Suteau-Courant, Mathilde Munier, Patrice RodienIn the absence of crystal available for the full-length thyrotropin receptor, knowledge of its structure and functioning has benefitted from the identification and characterization of mutations in patients with various thyroid dysfunctions. The characterization of activating mutations has contributed to the elaboration of a model involving the extracellular domain of the receptor as an inverse tethered agonist which, upo...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Multiple hormone resistance and alterations of G-protein-coupled receptors signaling
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Mantovani Giovanna, Elli Francesca MartaMetabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors.Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gs&al...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Giampaolo Trivellin, Laura C. Hernández-Ramírez, Jeremy Swan, Constantine A. StratakisX-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR1...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

The kisspeptin receptor: A key G-protein-coupled receptor in the control of the reproductive axis
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Delphine Franssen, Manuel Tena-SempereThe kisspeptin receptor, Kiss1R, also known as Gpr54, is a G protein-coupled receptor (GPCR), deorphanized in 2001, when it was recognized as canonical receptor for the Kiss1-derived peptides, kisspeptins. In 2003, inactivating mutations of Kiss1R gene were first associated to lack of pubertal maturation and hypogonadotropic hypogonadism in humans and rodents. These seminal findings pointed out the previously unsuspected, essential role of Kiss1R and it...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Pathophysiology of melanocortin receptors and their accessory proteins
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): T.V. Novoselova, L.F. Chan, A.J.L. ClarkThe melanocortin receptors (MCRs) and their accessory proteins (MRAPs) are involved in regulation of a diverse range of endocrine pathways. Genetic variants of these components result in phenotypic variation and disease. The MC1R is expressed in skin and variants in the MC1R gene are associated with ginger hair color. The MC2R mediates the action of ACTH in the adrenal gland to stimulate glucocorticoid production and MC2R mutations result in familial ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Internalization of G-protein-coupled receptors: Implication in receptor function, physiology and diseases
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Davide Calebiro, Amod GodboleG protein-coupled receptors (GPCRs) are the largest family of membrane receptors and mediate the effects of numerous hormones and neurotransmitters. The nearly 1000 GPCRs encoded by the human genome regulate virtually all physiological functions and are implicated in the pathogenesis of prevalent human diseases such as thyroid disorders, hypertension or Parkinson's disease. As a result, 30–50% of all currently prescribed drugs are targeting these receptors...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Editorial Board
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Novel mechanisms of G-protein-coupled receptors functions: AT1 angiotensin receptor acts as a signaling hub and focal point of receptor cross-talk
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): András D. Tóth, Gábor Turu, László Hunyady, András BallaAT1 angiotensin receptor (AT1R), a prototypical G protein-coupled receptor (GPCR), is the main receptor, which mediates the effects of the renin-angiotensin system (RAS). AT1R plays a crucial role in the regulation of blood pressure and salt-water homeostasis, and in the development of pathological conditions, such as hypertension, heart failure, cardiovascular remodeling, renal fibrosis, infla...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

G-protein-coupled receptors (GPCRs) in the treatment of diabetes: Current view and future perspectives
Publication date: April 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 2Author(s): Guido Sebastiani, Elena Ceccarelli, Maria Grazia Castagna, Francesco DottaG-protein coupled receptors (GPCRs) represent the largest receptor family in the genome and are of great interest for the design of novel drugs in a wide variety of diseases including neurologic disorders, obesity and Type 2 diabetes mellitus. The latter is a chronic disease characterized by insulin resistance and impaired insulin secretion, affecting>400 million patients worldwide.Here we provide an overview on: a...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Diagnosis and management of postnatal fetal growth restriction
Publication date: Available online 5 April 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Eloïse Giabicani, Aurélie Pham, Frédéric Brioude, Delphine Mitanchez, Irène NetchineFetal growth restriction (FGR) can result from multiple causes, such as genetic, epigenetic, environment, hormonal regulation, or vascular troubles and their potential interaction. The physiopathology of FGR is not yet fully elucidated, but the insulin-like growth factor system is known to play a central role. Specific clinical features can lead to the identification of geneti...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Diagnosis and management of hyperthyroidism from prenatal life to adolescence
Publication date: Available online 5 April 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Juliane Léger, Jean Claude CarelHyperthyroidism in children is a rare heterogeneous syndrome characterized by excessive thyroid hormone production. Its manifestations differ according to disease severity. For all forms of hyperthyroidism, treatment aims to restore a euthyroid state, enabling the child to demonstrate appropriate metabolism, growth, and neurocognitive development. Graves' disease is the most frequent cause of hyperthyroidism in children. Treatment modalities include ant...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Central adrenal insufficiency in children and adolescents
Publication date: Available online 10 April 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Giuseppa Patti, Chiara Guzzeti, Natascia Di Iorgi, Anna Elsa Maria Allegri, Flavia Napoli, Sandro Loche, Mohamad MaghnieCentral adrenal insufficiency (CAI) is a life-threatening condition caused by either pituitary disease (secondary adrenal insufficiency) or impaired hypothalamic function with inadequate CRH production (tertiary adrenal insufficiency). ACTH deficiency may be isolated or, more frequently, occur in conjunction with other pituitary hormone deficiencies and midline defects. Ge...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Genetics and management of congenital hypothyroidism
Publication date: Available online 19 May 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Luca Persani, Giuditta Rurale, Tiziana de Filippis, Elena Galazzi, Marina Muzza, Laura FugazzolaSeveral evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however familial forms are uncommon. CH can be due to morphogenetic or functional defects and several genes have been originally associated either with thyroid dysgenesis or dyshormonogenesis, with a highly variable expressivity and a frequently incomplete penetrance of the genetic defects. The phenotype-driven ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Bone turnover: Biology and assessment tools
Publication date: Available online 26 May 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Pawel SzulcBone turnover includes two processes: resorption (removal of old bone) and formation (laying down of new bone). N-terminal propeptide of type I procollagen (PINP) and C-telopeptide of type I collagen (CTX-I) are markers of bone formation and resorption, respectively, that the International Osteoporosis Foundation and the International Federation of Clinical Chemistry recommend for clinical use. Bone turnover markers (BTM) are subject to sources of variability, including feeding (lo...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research