Best Practice and Research. Clinical Endocrinology and Metabolism 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog."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 decreased, ...
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 levels in the...
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 protein (Gsα) or of dow...
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 or mini...
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 has show...
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 measurem...
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 available and to...
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, although the under...
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 frequently regu...
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, upon bindin...
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 (Gsα), a key regul...
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. GPR101 encodes a class A G p...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research
