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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 its ligand...
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 glucocor...
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. Once activ...
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, inflammation, and metabolic disorders. Stimulatio...
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) The molec...
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 genetic syndromes in some patients. FGR le...
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 antithyroid drugs...
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. Genetic mu...
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 genetic ...
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 (lower reso...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Central precocious puberty: From genetics to treatment
Publication date: Available online 26 May 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Rebecca Schneider Aguirre, Erica A. EugsterCentral precocious puberty (CPP) results from early activation of the hypothalamic - pituitary -gonadal (HPG) axis and follows the same sequence as normal puberty. While many factors involved in pubertal initiation remain poorly understood, the kisspeptin system is known to play a key role. Currently, mutations in the kisspeptin system, MKRN3, and DLK1 have been identified in sporadic and familial cases of CPP. The diagnosis is based on physical exam finding...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Familial hypocalciuric hypercalcemia and related disorders
Publication date: Available online 26 May 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Janet Y. Lee, Dolores M. ShobackFamilial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α11, or adaptor-related protein complex 2, sigma 1 subunit. While hypercalcemia in other conditions causes significant morbidity and mortality, FHH generally follows a benign course. Failure to diagnose FHH can result in unwarranted treatment or surgery for the mistaken diagnosis of primary hyperpara...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Paget's disease of bone
Publication date: Available online 26 May 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Natasha M. Appelman-Dijkstra, Socrates E. PapapoulosPaget's disease of bone is a focal disorder of bone remodelling that progresses slowly and leads to changes in the shape and size of affected bones and to skeletal, articular and vascular complications. In some parts of the world it is the second most common bone disorder after osteoporosis though in recent years its prevalence and severity appear to decrease. The disease is easily diagnosed and effectively treated but its pathogenesis remains incom...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Update on osteoporosis in men
Publication date: Available online 26 May 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Robert A. AdlerOsteoporosis in men remains under-diagnosed and under-appreciated. After a low trauma fracture, a man is less likely to have evaluation and treatment. The lifetime risk for osteoporotic fracture in older men may range from 13 to 25%, and as men live longer, there will be more fractures. Newer strategies for determining which men should have bone density testing are emerging. Information from observational studies are providing insights that allow targeted testing and treatment of those...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research