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

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...
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 prim...
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 remai...
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 ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Hypocalcemic disorders
Publication date: Available online 28 May 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Erin Bove-Fenderson, Michael MannstadtCalcium is vital for life, and extracellular calcium concentrations must constantly be maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs in conjunction with multiple disorders and can be life-threatening if severe. Symptoms of acute hypocalcemia include neuromuscular irritability, tetany, and seizures, which are rapidly resolved with intravenous administration of calcium gluconate. However, disorders that lead to chr...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Imaging endocrinology in animal models of endocrine disease
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): Patrice Mollard, Marie SchaefferEndocrine organs secrete a variety of hormones involved in the regulation of a multitude of body functions. Although pancreatic islets were discovered at the turn of the 19th century, other endocrine glands remained commonly described as diffuse endocrine systems. Over the last two decades, development of new imaging techniques and genetically-modified animals with cell-specific fluorescent tags or specific hormone deficiencies have enabled in vivo imagin...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Evidence from animal models on the pathogenesis of PCOS
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): K.A. Walters, M.J. Bertoldo, D.J. HandelsmanPolycystic ovarian syndrome (PCOS) is the most common endocrine condition in women, and is characterized by reproductive, endocrine and metabolic features. However, there is no simple unequivocal diagnostic test for PCOS, its etiology remains unknown and there is no cure. Hence, the management of PCOS is suboptimal as it relies on the ad hoc empirical management of its symptoms only. Decisive studies are required to unravel the origins of PCOS, but...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Animal models of endocrine disruption
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): Heather B. Patisaul, Suzanne E. Fenton, David AylorEndocrine disrupting chemicals (EDCs) are compounds that alter the structure and function of the endocrine system and may be contributing to disorders of the reproductive, metabolic, neuroendocrine and other complex systems. Typically, these outcomes cannot be modeled in cell-based or other simple systems necessitating the use of animal testing. Appropriate animal model selection is required to effectively recapitulate the human experience, ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Mouse models of peripheral metabolic disease
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): Gabriela da Silva Xavier, David J. HodsonMetabolic disease risk is driven by defects in the function of cells that regulate energy homeostasis, as well as altered communication between the different tissues or organs that these cells occupy. Thus, it is desirable to use model organisms to understand the contribution of different cells, tissues and organs to metabolism. Mice are widely used for metabolic research, since well-characterised mouse strains (in terms of their genotype and phenotyp...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Translational studies provide insights for the etiology and treatment of cortical bone osteoporosis
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): Robert Brommage, Claes OhlssonAbstractIncreasing attention is being focused on the important contributions of cortical bone to bone strength, fractures and osteoporosis therapies. Recent progress in human genome wide association studies in combination with high-throughput mouse gene knockout phenotyping efforts of multiple genes and advanced conditional gene inactivation in mouse models have successfully identified genes with crucial roles in cortical bone homeostasis. Particular attention i...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Editorial Board
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(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

Preface
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): Matti Poutanen, Manuel Tena-Sempere (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

Mouse models for the analysis of gonadotropin secretion and action
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): Sara Babcock Gilbert, Allyson K. Roof, T. Rajendra KumarGonadotropins are pituitary gonadotrope-derived glycoprotein hormones. They act by binding to G-protein coupled receptors on gonads. Gonadotropins play critical roles in reproduction by regulating both gametogenesis and steroidogenesis. Although biochemical and physiological studies provided a wealth of knowledge, gene manipulation techniques using novel mouse models gave new insights into gonadotropin synthesis, secretion and acti...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Genetically modified mouse models to investigate thyroid development, function and growth
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): C. Löf, K. Patyra, A. Kero, J. KeroThe thyroid gland produces thyroid hormones (TH), which are essential regulators for growth, development and metabolism. The thyroid is mainly controlled by the thyroid-stimulating hormone (TSH) that binds to its receptor (TSHR) on thyrocytes and mediates its action via different G protein-mediated signaling pathways. TSH primarily activates the Gs-pathway, and at higher concentrations also the Gq/11-pathway, leading to an increase of intracellular cAM...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Animal models of endometriosis: Replicating the aetiology and symptoms of the human disorder
Publication date: June 2018Source: Best Practice & Research Clinical Endocrinology & Metabolism, Volume 32, Issue 3Author(s): Ioannis Simitsidellis, Douglas A. Gibson, Philippa T.K. SaundersEndometriosis is a chronic incurable disorder that affects 1 in 10 women of reproductive age: associated symptoms include chronic pain and infertility. The aetiology of endometriosis remains poorly understood but patients, clinicians and researchers are all in agreement that new non-surgical therapies are urgently needed to reduce the severity of symptoms. Preclinical testing of drugs requires the development and validation of m...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Genetic causes of proportionate short stature
Publication date: Available online 6 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Jesús Argente, Luis A. Pérez-JuradoHuman growth is a very complex phenomenon influenced by genetic, hormonal, nutritional and environmental factors, from fetal life to puberty. Although the GH-IGF axis has a central role with specific actions on growth, numerous genes are involved in the control of stature. Genome-wide association studies have identified>600 variants associated with human height, still explaining only a small fraction of phenotypic variation. Since short stat...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Primary adrenal insufficiency in children: Diagnosis and management
Publication date: Available online 6 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Tarik Kirkgoz, Tulay GuranPrimary adrenal insufficiency (PAI) is a life-threatening disorder of adrenal cortex which is characterized by deficient biosynthesis of glucocorticoids, with or without deficiency in mineralocorticoids and adrenal androgens. Typical manifestations of primary adrenal insufficiency include hyperpigmentation, hypotension, hypoglycaemia, hyponatremia with or without hyperkalemia that are generally preceded by nonspecific symptoms at the onset. Recessively inherited mono...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

The evaluation and management of the boy with DSD
Publication date: Available online 6 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): F.N. Al-Juraibah, A.K. Lucas-Herald, M. Alimussina, S.F. AhmedAtypical genitalia in a boy may have a very wide and diverse aetiology and a definitive diagnosis is often challenging to reach. Detailed clinical evaluation integrated with extensive biochemical and genetic studies play an important role in this process. Such care should be undertaken in highly specialized centres that can also provide access to a multidisciplinary team for optimal long-term care. (Source: Best Practice and Resear...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Diagnosis and management of hyperinsulinaemic hypoglycaemia
Publication date: Available online 6 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Sonya Galcheva, Sara Al-Khawaga, Khalid HussainHyperinsulinaemic hypoglycaemia (HH) is a heterogeneous condition with dysregulated insulin secretion which persists in the presence of low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. Recent advances in genetics have linked congenital HH to mutations in 14 different genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Management of hypogonadism from birth to adolescence
Publication date: Available online 6 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Sasha R. Howard, Leo DunkelManagement of patients with hypogonadism is dependent on the underlying cause. Whilst functional hypogonadism presenting as delayed puberty in adolescence is relatively common, permanent hypogonadism presenting in infancy or adolescence is unusual. The main differential diagnoses of delayed puberty include self-limited delayed puberty (DP), idiopathic hypogonadotropic hypogonadism (IHH) and hypergonadotropic hypogonadism. Treatment of self-limited DP involves expect...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Parathyroid hormone independent hypercalcemia in adults
Publication date: Available online 18 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Jens Bollerslev, Mikkel Pretorius, Ansgar HeckParathyroid independent hypercalcemia is characterized by suppressed parathyroid hormone (PTH) in the presence of hypercalcemia.Well known causes and mechanisms are redistribution of calcium from the skeleton, by malignant diseases; inadequately increased intestinal calcium uptake mediated by increased vitamin D activity, and reduced renal elimination due to medications. Frequent and infrequent causes are discussed, and more recent mechanistic mo...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Sclerosing bone dysplasias
Publication date: Available online 18 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Eveline Boudin, Wim Van HulThe group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and the other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlyin...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Non classical complications of primary hyperparathyroidism
Publication date: Available online 18 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): I. Chiodini, E. Cairoli, S. Palmieri, J. Pepe, M.D. WalkerSeveral studies suggested that the condition of primary hyperparathyroidism (PHPT) may be associated not only with the classical bone, kidney and gastrointestinal consequences, but also with cardiovascular, neuromuscular and articular complications, impaired quality of life and increased cancer risk. However, the only cardiovascular complications associated with PHPT, which seems to improve after parathyroidectomy, is left ventricular...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Update on bone density measurements and their interpretation in children and adolescents
Publication date: Available online 18 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Natascia Di Iorgi, Katia Maruca, Giuseppa Patti, Stefano MoraFollowing the increased awareness about the central role of the pediatric age in building bone for life, clinicians face more than ever the necessity of assessing bone health in pediatric subjects at risk for early bone mass derangements or in healthy children, in order to optimize their bone mass accrual and prevent osteoporosis. Although the diagnosis of osteoporosis is not made solely upon bone mineral density measurements durin...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Phosphate homeostasis disorders
Publication date: Available online 18 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Marta Christov, Harald JüppnerOur understanding of the regulation of phosphate balance has benefited tremendously from the molecular identification and characterization of genetic defects leading to a number of rare inherited or acquired disorders affecting phosphate homeostasis. The identification of the key phosphate-regulating hormone, fibroblast growth factor 23 (FGF23), as well as other molecules that control its production, such as the glycosyltransferase GALNT3, the endopeptidase...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

New treatment modalities for obesity
Publication date: Available online 25 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): A. Grandone, A. Di Sessa, G.R. Umano, R. Toraldo, E. Miraglia del GiudiceThe treatment of childhood obesity represents a greater challenge for pediatricians. To date, it is multidisciplinary, including behavioral, dietary, pharmacological, and surgical options. Given the limited efficacy of available treatments, scientific research on finding new solutions is very active. Several drugs comprising Metformin, Glucagon-like peptide- 1 receptor agonists, Naltrexone-bupropion, Phentermine-Topiram...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Genetic causes and treatment of neonatal diabetes and early childhood diabetes
Publication date: Available online 25 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Fabrizio Barbetti, Giuseppe D'AnnunzioDiabetes mellitus and impaired fasting glucose associated with single gene mutations are less rare than previously thought and may account for more than 6% of patients attending a pediatric diabetes clinic. The number of loci involved in monogenic diabetes exceed 25, and appropriate genetic diagnosis is crucial to direct therapy, for genetic counseling and for prognosis of short- and long-term complications. Among patients with neonatal diabetes (i.e. wi...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research

Preface
Publication date: Available online 27 June 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Mohamad Maghnie, Sandro Loche, Natascia Di Iorgi (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

Hypocalcaemic and Hypophosphatemic Rickets
Publication date: Available online 4 July 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): A.S. Lambert, A. LinglartAbstractRickets refers to deficient mineralization at the growth plate and is usually associated with abnormal serum calcium and/or phosphate. There are several subtypes of rickets, including hypophosphatemic rickets (vitamin-D-resistant rickets secondary to renal phosphate wasting), vitamin D-dependent rickets (defects of vitamin D metabolism) and nutritional rickets (caused by dietary deficiency of vitamin D, and/or calcium, and/or phosphate). Most rickets manifest ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 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 5, 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 5, 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 5, 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 5, 2018 Category: Endocrinology Source Type: research