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 chronic hyp...
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 imaging of endocri...
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 due to ...
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, includin...
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 phenotype) allow...
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 in this r...
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 action. Both gai...
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 cAMP and Ca2+, ...
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 models th...
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 stature in childhood is a c...
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 monogenic di...
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 Research Clini...
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, HNF4A, HNF1A...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 10, 2018 Category: Endocrinology Source Type: research