Diagnosis and treatment of hyponatraemia
Publication date: Available online 30 December 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): S.G. Ball, Zohaib Iqbal Hyponatraemia is the most common electrolyte abnormality encountered by physicians in the hospital setting. It is associated with increased mortality and length of hospital stay. However, the basis of the relationship of hyponatraemia with clinical outcome is not clear. Doubt remains as to whether the relationship is causal. It may reflect the association of two independent variables both of which are linked with disease severity. Serum sodium concent...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - January 13, 2016 Category: Endocrinology Source Type: research

From substitution of insulin to replacement of insulin producing cells: New therapeutic opportunities from research on pancreas development and stem cell differentiation
Publication date: Available online 10 November 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Henryk Zulewski (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 10, 2015 Category: Endocrinology Source Type: research

Inherited defects of thyroxine-binding proteins
Publication date: October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 29, Issue 5 Author(s): Theodora Pappa, Alfonso Massimiliano Ferrara, Samuel Refetoff Thyroid hormones (TH) are bound to three major serum transport proteins, thyroxine-binding globulin (TBG), transthyretin (TTR) and human serum albumin (HSA). TBG has the strongest affinity for TH, whereas HSA is the most abundant protein in plasma. Individuals harboring genetic variations in TH transport proteins present with altered thyroid function tests, but are clinically euthyroid and do not require treatment...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 6, 2015 Category: Endocrinology Source Type: research

Human pluripotent stem cell based islet models for diabetes research
Publication date: Available online 30 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Diego Balboa, Timo Otonkoski Although similar, mouse and human pancreatic development and beta cell physiology have significant differences. For this reason, mouse models present shortcomings that can obscure the understanding of human diabetes pathology. Progress in the field of human pluripotent stem cell (hPSC) differentiation now makes it possible to derive unlimited numbers of human beta cells in vitro. This constitutes an invaluable approach to gain insight into human b...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 1, 2015 Category: Endocrinology Source Type: research

Differentiation of Human Pluripotent Stem Cells into β-cells: Potential and Challenges
Publication date: Available online 30 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Nina Quiskamp, Jennifer E. Bruin, Timothy J. Kieffer Human embryonic stem cells (hESCs) and induced pluripotent stem cells (iPSCs) hold great potential as the basis for cell-based therapies of degenerative diseases, including diabetes. Current insulin-based therapies for diabetes do not prevent hyperglycemia or the associated long-term organ damage. While transplantation pancreatic islets can achieve insulin independence and improved glycemic control, it is limited by donor ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 1, 2015 Category: Endocrinology Source Type: research

A short history of neuroendocrine tumours and their peptide hormones
Publication date: Available online 23 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Wouter W. de Herder, Jens F. Rehfeld, Mark Kidd, Irvin M. Modlin The discovery of neuroendocrine tumours of the gastrointestinal tract and pancreas started in 1870, when Rudolf Heidenhain discovered the neuroendocrine cells, which can lead to the development of these tumours. Siegfried Oberndorfer was the first to introduce the term carcinoid in 1907. The pancreatic islet cells were first described in 1869 by Paul Langerhans. In 1924, Seale Harris was the first to describe ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 23, 2015 Category: Endocrinology Source Type: research

Implication of epigenetics in pancreas development and disease
Publication date: Available online 23 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Evans Quilichini, Cécile Haumaitre Pancreas development is controlled by a complex interaction of signaling pathways and transcription factor networks that determine pancreatic specification and differentiation of exocrine and endocrine cells. Epigenetics adds a new layer of gene regulation. DNA methylation, histone modifications and non-coding RNAs recently appeared as important epigenetic factors regulating pancreas development. In this review, we report recent findi...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 23, 2015 Category: Endocrinology Source Type: research

Neuroendocrine tumours – Medical therapy: Biological
Publication date: Available online 9 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Anja Rinke, Sebastian Krug Somatostatin analogues (SSA) are well established antisecretory drugs that have been used as first line treatment for symptomatic control in hormonally active neuroendocrine tumours (NET) for three decades. Both available depot formulations of SSA, long-acting repeatable (LAR) octreotide and lanreotide autogel, seem similarly effective and well tolerated, although comparative trials in NET have not been performed. The importance of SSA as antiprolife...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 22, 2015 Category: Endocrinology Source Type: research

Neuroendocrine Tumours- Medical Therapy: Biological
Publication date: Available online 9 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Anja Rinke, Sebastian Krug Somatostatin analogues (SSA) are well established antisecretory drugs that have been used as first line treatment for symptomatic control in hormonally active neuroendocrine tumors (NET) for three decades. Both available depot formulations of SSA, long-acting repeatable (LAR) octreotide and lanreotide autogel, seem similarly effective and well tolerated, although comparative trials in NET have not been performed. The importance of SSA as antiprolifer...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 10, 2015 Category: Endocrinology Source Type: research

Carcinoid Heart Disease: Diagnosis and Management
Publication date: Available online 9 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Sushil A. Luis, Patricia A. Pellikka Hedinger syndrome refers to carcinoid valvular heart disease. The disease is believed to be triggered by vasoactive substances that result in valvular fibrosis. It classically occurs in patients with metastatic carcinoid and preferentially involves the right sided cardiac valves. Affected valves become thickened and retracted, exhibiting regurgitation and sometimes, stenosis. Echocardiography is recommended in patients with carcinoid syndro...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 10, 2015 Category: Endocrinology Source Type: research

Reprogramming of liver cells into insulin-producing cells
Publication date: Available online 8 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Irit Meivar-Levy, Sarah Ferber Tissue replacement is a promising direction for the treatment of diabetes, which will become widely available only when islets or insulin-producing cells that will not be rejected by the diabetic recipients are available in unlimited amounts. The present review addresses the research in the field of generating functional insulin-producing cells by transdifferentiation of adult liver cells both in vitro and in vivo. It presents recent knowledge of...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Other miscellaneous hormone binding proteins: attempt at an epilogue
Publication date: Available online 8 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Juergen Kratzsch (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Peptide Receptor Radionuclide Therapy of Neuroendocrine Tumours
Publication date: Available online 8 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Tessa Brabander, Jaap J.M. Teunissen, Casper H.J. Van Eijck, Gaston J.H. Franssen, Richard A. Feelders, Wouter W. de Herder, Dik J. Kwekkeboom In the past decades the number of neuroendocrine tumours that are detected is increasing. A relative new and promising therapy for patients with metastasised or inoperable disease is peptide receptor radionuclide therapy (PRRT). This therapy involves an infusion of somatostatin analogues linked to radionuclides like Yttrium-90 or L...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Surgical Management of Neuroendocrine Tumors
Publication date: Available online 8 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Domenico Tamburrino, Gabriele Spoletini, Stefano Partelli, Francesca Muffatti, Olga Adamenko, Stefano Crippa, Massimo Falconi During the last decades an increase in the incidence of neuroendocrine tumors (NETs) was observed. Gastroenteropancreatic NETs represent the majority of NETs. Compared with their epithelial counterpart they usually have a more indolent behavior and surgical resection improves survival. Tumor diameter is one of the main parameter in the decision mak...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Evolving Function and Potential of Pancreatic Alpha Cells
Publication date: Available online 8 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Violeta Stanojevic, Joel F. Habener The alpha cells that co-occupy the islets in association with beta cells have been long recognized as the source of glucagon, a hyperglycemia-producing and diabetogenic hormone. Although the mechanisms that control the functions of alpha cells, glucagon secretion, and the role of glucagon in diabetes have remained somewhat enigmatic over the fifty years since their discovery, seminal findings during the past few years have moved alpha cells ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Somatic and Germline Mutations in Nets: Implications for their Diagnosis and Management
Publication date: Available online 9 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Marianna Minnetti, Ashley Grossman It is now understood that specific somatic and germline mutations may lead to the development of the neuroendocrine tumours (NETs). NETs usually occur as sporadic isolated tumours, although they also may present as part of complex familial endocrine cancer syndromes, such as multiple endocrine neoplasia type 1 and type 2, Von Hippel-Lindau and neurofibromatosis syndromes, tuberous sclerosis, Carney triad and dyad, Reed syndrome and polycythae...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Soluble receptors and hormone binding proteins: analytical approach and clinical relevance
Publication date: Available online 9 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Juergen Kratzsch, Wieland Kiess (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Reprogramming of human exocrine pancreas cells to beta cells
Publication date: Available online 9 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Willem Staels, Yves Heremans, Harry Heimberg (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Proper activation of MafA is required for optimal differentiation and maturation of pancreatic β-cells
Publication date: Available online 9 October 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Ilham El Khattabi, Arun Sharma A key therapeutic approach for the treatment of Type 1 diabetes (T1D) is transplantation of functional islet β-cells. Despite recent advances in generating stem cell-derived glucose-responsive insulin+ cells, their further maturation to fully functional adult β-cells still remains a daunting task. Conquering this hurdle will require a better understanding of the mechanisms driving maturation of embryonic insulin+ cells into adult β...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 9, 2015 Category: Endocrinology Source Type: research

Inherited defects of thyroxin-binding proteins
Publication date: Available online 30 September 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Theodora Pappa, Alfonso Massimiliano Ferrara, Samuel Refetoff Thyroid hormones (TH) are bound to three major serum transport proteins, thyroxin-binding globulin (TBG), transthyretin (TTR) and human serum albumin (HSA). TBG has the strongest affinity for TH, whereas HSA is the most abundant protein in plasma. Individuals harboring genetic variations in TH transport proteins present with altered thyroid function tests, but are clinically euthyroid and do not require treatmen...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 1, 2015 Category: Endocrinology Source Type: research

Beyond soluble transferrin receptor: Old challenges and new horizons
Publication date: Available online 30 September 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Kristian Harms, Thorsten Kaiser Disturbances of iron metabolism are a frequent challenge in outpatient and inpatient care. Although several established biomarkers are commonly used by clinicians for differential diagnosis, the discrimination between latent or classic iron deficiency, anaemia of chronic disease or a combination of functional iron deficiency (iron-restricted erythropoiesis) with anaemia of chronic disease in patients affected by inflammatory disease can be de...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 1, 2015 Category: Endocrinology Source Type: research

Corticosteroid-binding globulin: modulating mechanisms of bioavailability of cortisol and its clinical implications
Publication date: Available online 11 September 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Yoon Ju Bae, Juergen Kratzsch Corticosteroid-binding globulin (CBG) is the principal transport protein of glucocorticoids. Approximately 80-90% of serum cortisol binds to CBG with high affinity and only about 5% of cortisol remain unbound and is considered biologically active. CBG seems to modulate and influence the bioavailability of cortisol to local tissues. In this review, we will discuss physicochemical properties of CBG and structure of CBG in the mechanisms of bindin...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 11, 2015 Category: Endocrinology Source Type: research

The soluble leptin receptor
Publication date: Available online 6 September 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Michael Schaab, Juergen Kratzsch The adipokine leptin realizes signal transduction via four different leptin receptor (OB-R) isoforms. The amount of functionally active OB-R, however, is affected by constitutive shedding of the extracellular domain. The product of the cleavage process, the so-called soluble leptin receptor (sOB-R), is the main binding protein for leptin in human blood and modulates its bioavailability. Concentrations of sOB-R are differentially regulated in ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 7, 2015 Category: Endocrinology Source Type: research

Growth hormone binding protein – Physiological and analytical aspects
Publication date: Available online 27 June 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Katharina Schilbach, Martin Bidlingmaier A significant proportion of total circulating growth hormone (GH) is bound to a high affinity growth hormone binding protein (GHBP). Several low affinity binding proteins have also been described. Significant differences between species exist with respect to origin and regulation of GHBP, but generally it resembles the extracellular domain of the GH receptor. Concentrations are associated with GH status, body composition and other factors...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Insulin-like growth factor binding-protein-3 (IGFBP–3)
Publication date: Available online 27 June 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Michael B. Ranke The IGF system comprises two IGFs (IGF-1, IGF-2), two IGF-receptors (IGF-R1, IGF-R2), and six IGF binding proteins (IGFBPs) with a high affinity for IGFs. The IGFBPs, of which IGFBP-3 is the most abundant in postnatal blood, link with IGFs and prevent them from being degraded; they also facilitate IGF transport through body compartments. The interaction between IGFs and their specific receptors is partly regulated by structural modifications inherent to the IGFBP...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Insulin-like growth factor binding proteins 4-6
Publication date: Available online 27 June 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Leon A. Bach Insulin-like growth factor binding proteins (IGFBPs) 4-6 have important roles as modulators of IGF actions. IGFBP-4 and IGFBP-6 predominantly inhibit IGF actions, whereas IGFBP-5 may enhance these actions under some circumstances. IGFBP-6 is unique among the IGFBPs for its marked IGF-II binding preference. IGFBPs 4-6 are found in the circulation as binary complexes with IGFs that can enter tissues. Additionally, about half of the circulating IGFBP-5 is found in terna...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Vitamin D signaling in calcium and bone homeostasis: A delicate balance
Publication date: Available online 30 June 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Geert Carmeliet, Veronique Dermauw, Roger Bouillon Loss-of-function mutations in genes involved in the vitamin D/vitamin D receptor system have clearly evidenced its critical role for mineral and skeletal homeostasis. Adequate levels of 1,25-dihydroxyvitamin D [1,25(OH)2D], the active form of vitamin D are therefore required and depend on sufficient sunlight exposure or dietary intake. Intestinal calcium absorption is a primary target of 1,25(OH)2D action and this pathway indir...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

The biomarker sex hormone-binding globulin – From established applications to emerging trends in clinical medicine
Publication date: Available online 30 June 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Markus A. Thaler, Vanadin Seifert-Klauss, Peter B. Luppa Sex hormone-binding globulin (SHBG) is a serum glycoprotein exhibiting the unique feature of binding sex steroids with high affinity and specificity. Its serum levels are regulated not only by androgens and estrogens but also by thyroid hormones and other metabolic factors. Several disease conditions are accompanied by altered SHBG levels such as hyper- and hypoandrogenism, thyroid disorders, pituitary diseases, liver dis...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Behind the scenes of vitamin D binding protein: More than vitamin D binding
Publication date: Available online 2 July 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Joris R. Delanghe, Reinhart Speeckaert, Marijn M. Speeckaert Although being discovered in 1959, the number of published papers in recent years reveals that vitamin D binding protein (DBP), a member of the albuminoid superfamily, is a hot research topic. Besides the three major phenotypes (DBP1F, DBP1S and DBP2), more than 120 unique variants have been described of this polymorphic protein. The presence of DBP has been demonstrated in different body fluids (serum, urine, breast m...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Physiology and pathophysiology of IGFBP-1 and IGFBP-2 – Consensus and dissent on metabolic control and malignant potential
Publication date: Available online 8 July 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Andreas Hoeflich, Vincenzo C. Russo IGFBP-1 and IGFBP-2 are suppressed by growth hormone and therefore represent less prominent members of the IGFBP family when compared to IGFBP-3 that carries most of the IGFs during circulation under normal conditions in humans in vivo. As soon as the GH signal is decreased expression of IGF-I and IGFBP-3 is reduced. Under conditions of lowered suppression by GH the time seems come for IGFBP-1 and IGFBP-2. Both IGFBPs are potent effectors ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

The soluble interleukin-6 receptor and related proteins
Publication date: Available online 8 July 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Stefan Rose-John Interleukin-6 is a cytokine involved in the regulation of the immune system and the central nervous system. Interleukin-6 binds to an interleukin-6 receptor, and then associates with a dimer of the ubiquitously expressed gp130 receptor subunit, which initiates intracellular signaling. The interleukin-6 receptor is found in a soluble form, which is generated by proteolytic cleavage and also to a minor extent by translation from an alternatively spliced mRNA. The co...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Noncoding RNAs and the control of signalling via nuclear receptor regulation in health and disease
Publication date: Available online 14 July 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Paul Cathcart, Walter Lucchesi, Silvia Ottaviani, Alex De Giorgio, Jonathan Krell, Justin Stebbing, Leandro Castellano Nuclear receptors belong to a superfamily of proteins that play central roles in human biology, orchestrating a large variety of biological functions in both health and disease. Understanding the interactions and regulatory pathways of NRs will allow development of potential therapeutic interventions for a multitude of disease processes. Non-coding RNAs hav...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Classical nuclear hormone receptor activity as a mediator of complex biological responses: A look at health and disease
Publication date: Available online 16 July 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Paul Michael Yen Nuclear hormone receptors are a large family of receptors that bind a wide range of lipolic hormones and intracellular ligands. They act as ligand-inducible transcription factors to regulate the expression of target genes and play important roles in normal development, reproduction, and metabolism. NRs bind to hormones steroids, thyroid hormone, and vitamin D as well as metabolites of fatty acids, cholesterol, and bild acids. Orphan receptors are another group of...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Soluble M6P/IGFIIR in the Circulation
Publication date: Available online 15 August 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Carolyn D. Scott, Wieland Kiess Soluble M6P/IGFIIR has the potential to be a significant carrier of IGF-II and mannose 6-P proteins in the circulation and play an important role as an antagonist to the cellular receptor. Evidence suggests that soluble receptor plays a role in fetal and childhood growth by opposing the growth stimulatory effects of IGF-II. Maternal serum levels of M6P/IGFIIR are elevated in late pregnancy and the IGF-II:soluble M6P/IGFIIR ratio in cord blood co...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 21, 2015 Category: Endocrinology Source Type: research

Resistance to thyroid hormone due to defective thyroid receptor alpha
Publication date: Available online 30 July 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Carla Moran, Krishna Chatterjee Thyroid hormones act via nuclear receptors (TRα1, TRβ1, TRβ2) with differing tissue distribution; the role of α2 protein, derived from the same gene locus as TRα1, is unclear. Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with near-normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia (macrocephaly, epiphyseal dysge...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 15, 2015 Category: Endocrinology Source Type: research

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
Publication date: Available online 14 July 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Jenifer P. Suntharalingham, Federica Buonocore, Andrew J. Duncan, John C. Achermann DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. This condition typically affects boys and presents as primary adrenal insufficiency in early infancy or childhood, hypogonadotropic hypogonadism at puberty an...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 16, 2015 Category: Endocrinology Source Type: research

Innovative Treatments for Lysosomal Diseases
Publication date: Available online 23 January 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Timothy M. Cox Striking therapeutic advances for lysosomal diseases have harnessed the biology of this organelle and illustrate its central rôle in the dynamic economy of the cell. Further Innovation will require improved protein-targetting or realization of therapeutic gene- and cell transfer stratagems. Rescuing function before irreversible injury, mandates a deep knowledge of clinical behaviour as well as molecular pathology – and frequently requires an understan...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Childhood obesity: Current and novel approaches
Publication date: Available online 22 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Matthew A. Sabin , Wieland Kiess The prevalence of childhood obesity has increased over the last fifty years by approximately 5% per decade, and approximately a quarter of all children are now either overweight or obese. These children have a significantly increased risk of many future health problems including adult obesity, type 2 diabetes and heart disease. Despite this relentless increase, common-sense approaches aimed at prevention and treatment have failed to solve the prob...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Specificity and Sensitivity of Glucocorticoid Signaling in Health and Disease
Publication date: Available online 25 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Derek W. Cain , John A. Cidlowski Endogenous glucocorticoids regulate a variety of physiologic processes and are crucial to the systemic stress response. Glucocorticoid receptors are expressed throughout the body, but there is considerable heterogeneity in glucocorticoid sensitivity and induced biological responses across tissues. The immunoregulatory properties of glucocorticoids are exploited in the clinic for the treatment of inflammatory and autoimmune disorders as well as ce...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Treatment of congenital thyroid dysfunction: achievements and challenges
Publication date: Available online 26 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Heiko Krude , Peter Kühnen , Heike Biebermann The active thyroid hormone tri-iodothyronine (T3) is essential for a normal development of children. Especially within the first years of life, thyroid hormone is pivotal in enabling maturation of complex brain function and somatic growth. The most compelling example for a life without thyroid hormone are those historical cases of children who came to birth without a thyroid gland –as shown in autopsy-studies- and who suffe...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Androgen insensitivity syndrome
Publication date: Available online 26 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Nigel P. Mongan , Rieko Tadokoro Cuccaro , Trevor Bunch , Ieuan A. Hughes Androgen insensitivity syndrome (AIS) results from androgen receptor dysfunction and is a common cause of disorder of sex development. The AIS phenotype largely depends on the degree of residual androgen receptor (AR) activity. This review describes the molecular action of androgens and the range of androgen receptor gene mutations, essential knowledge to understand the pathogenesis of the complete and part...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Estrogen receptor alpha and beta in health and disease
Publication date: Available online 26 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Min Jia , Karin Dahlman-Wright , Jan-Åke Gustafsson Estrogen receptors alpha (ERα) and beta (ERβ) are transcription factors that are involved in the regulation of many complex physiological processes in humans. Abnormal ER signaling leads to development of a variety of diseases, such as cancer, metabolic and cardiovascular disease, neurodegeneration, inflammation, and osteoporosis. This review provides an overview and update on ERα and ERβ in health an...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Hormone Replacement Therapy in Children: The Use of Growth Hormone and IGF-I
This article gives an overview, what has been achieved over the past 30 years in respect to optimization of rhGH treatment for the individual child with GH deficiency and what are the safety issues concerned with this treatment. In the last twenty years significant scientific progress has been made in the diagnosis of GH deficiency, the genetic disorders that are associated with pituitary GH deficiency and the genetics that influence growth in general. On the other hand rhGH is not only used in states of GH deficiency but also various conditions without a proven GH deficiency by classical standards. Clinical studies that i...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Inherited forms of mineralocorticoid hypertension
Publication date: Available online 5 May 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Maria-Christina Zennaro , Sheerazed Boulkroun , Fabio Fernandes-Rosa Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis in the distal nephron. Monogenic forms of mineralocorticoid hypertension result from genetic defects leading to excessive production of aldosterone (or other mineralocorticoids) from the adrenal cortex or to illegitimate mineralocorticoid effects in the kidney. They are characterized in the majority of cases by early onset, ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Management of Diabetes Insipidus and Adipsia in the Child
Publication date: Available online 9 May 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Natascia Di Iorgi , Giovanni Morana , Flavia Napoli , Anna Elsa , Maria Allegri , Andrea Rossi , Mohamad Maghnie Central diabetes insipidus (CDI) is a complex and heterogeneous clinical syndrome affecting the hypothalamic-neurohypophyseal network and water balance. A recent national surveillance in Denmark showed a prevalence rate of twenty-three CDI patients per 100 000 inhabitants in five years. The differential diagnosis between several presenting conditions with polyuria and pol...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2015 Category: Endocrinology Source Type: research

Overlapping nongenomic and genomic actions of thyroid hormone and steroids
Publication date: Available online 22 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Stephen R. Hammes , Paul J. Davis The genomic actions of thyroid hormone and steroids depend upon primary interactions of the hormones with their specific nuclear receptor proteins. Formation of nuclear co-activator or co-repressor complexes involving the liganded receptors subsequently result in transcriptional events—either activation or suppression—at genes that are specific targets of thyroid hormone or steroids. Nongenomic actions of thyroid hormone and steroids ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 8, 2015 Category: Endocrinology Source Type: research

Androgen receptor roles in spermatogenesis and infertility
Publication date: Available online 25 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Laura O’Hara , Lee B. Smith Androgens such as testosterone are steroid hormones essential for normal male reproductive development and function. Mutations of androgen recptors (AR) are often found in patients with disorders of male reproductive development, and milder mutations may be responsible for some cases of male infertility. Androgens exert their action through AR and its signalling in the testis is essential for spermatogenesis. AR is not expressed in the developing...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 1, 2015 Category: Endocrinology Source Type: research

Overlapping nongenomic and genomic actions of thyroid hormone and steroids
Publication date: Available online 22 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Stephen R. Hammes , Paul J. Davis The genomic actions of thyroid hormone and steroids depend upon primary interactions of the hormones with their specific nuclear receptor proteins. Formation of nuclear co-activator or co-repressor complexes involving the liganded receptors subsequently result in transcriptional events—either activation or suppression—at genes that are specific targets of thyroid hormone or steroids. Nongenomic actions of thyroid hormone and steroids ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 23, 2015 Category: Endocrinology Source Type: research

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency
Publication date: Available online 21 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Emma A. Webb , Nils Krone Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessives conditions leading to glucocorticoid deficiency. CAH is the most common cause of adrenal insufficiency (AI) in the paediatric population. The majority of the other forms of primary and secondary adrenal insufficiency are rare conditions. It is critical to establish the underlying aetiology of each specific condition as a wide range of additional health problems specific to th...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 22, 2015 Category: Endocrinology Source Type: research

Transition of adolescents and young adults with endocrine diseases to adult health care
Publication date: Available online 3 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Thomas M. Kapellen , Wieland Kiess The transition of adolescents with chronic endocrine diseases to adult care remains a major challenge for all those participating in the process. In paediatric endocrinology, a variety of diseases pose different challenges in the transitional process. The outcome of this transitional process is often judged by what happens after transfer. The young patient needs to be educated early on about continuing treatment into adulthood, resulting in full ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 10, 2015 Category: Endocrinology Source Type: research