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

Transition to adult endocrine services: what is achievable? The diabetes perspective
Publication date: Available online 3 April 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Mary White , Fergus Cameron Transition is defined as the ‘purposeful, planned movement of adolescents and young adults with chronic physical and medical conditions from child-centred to adult-oriented health care systems’(1). The primary goal of transition is to ensure an uninterrupted process in healthcare delivery between the paediatric and adult settings; however, losses to follow up and decreased engagement with specialist services are common during this time. The ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 10, 2015 Category: Endocrinology Source Type: research

Complications of Vitamin D deficiency from the foetus to the infant: One cause, one prevention, but who’s responsibility?
Publication date: Available online 24 March 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Wolfgang Högler Calcium and phosphorus represent building material for bones. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone minerals is highest during phases of rapid growth, and no one grows faster than the foetus and the infant, making them particularly vulnerable. Deprivation of calcium, whether through low calcium intake or low vitamin D, leads to serious health ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 26, 2015 Category: Endocrinology Source Type: research

Closed loop insulin delivery in diabetes
Publication date: Available online 10 March 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Tadej Battelino , Jasna Šuput Omladič , Moshe Philip The primary goal of type 1 diabetes treatment is attaining near-normal glucose values. This currently remains out of reach for most people with type 1 diabetes despite intensified insulin treatment in the form of insulin analogues, educational interventions, continuous glucose monitoring, and sensor augmented insulin pump. The main remaining problem is risk of hypoglycaemia, which cannot be sufficiently reduced in all p...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 12, 2015 Category: Endocrinology Source Type: research

Hormone replacement in disorders of sex development: Current thinking
We describe diagnostic criteria for different DSDs, clinical considerations in management protocols, together with current concepts and detailed practical hormone treatments for male and female individuals with DSD. Gender identity issues requiring multidisciplinary consensus, ethical consideration and informed consent or assent from the young person are also addressed. (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 12, 2015 Category: Endocrinology Source Type: research

Pubertal induction in hypogonadism: Current approaches including use of gonadotrophins
Publication date: Available online 26 February 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Margaret Zacharin Primary disorders of the gonad or those secondary to abnormalities of the hypothalamic pituitary axis result in hypogonadism. The range of health problems of childhood and adolescence that affect this axis has increased, as most children now survive chronic illness, but many have persisting deficits in gonadal function as a result of their underlying condition or its treatment. An integrated approach to hormone replacement is needed to optimize adult hormonal...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 4, 2015 Category: Endocrinology Source Type: research

Neuronopathic lysosomal storage disorders: approaches to treat the central nervous system
Publication date: Available online 5 January 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Maurizio Scarpa , Cinzia Maria Bellettato , Christina Lampe , David J. Begley Pharmacological research has always focused on developing new therapeutic strategies capable of modifying a disease’s natural history and improving patients’ quality of life. Despite recent advances within the fields of medicine and biology, some diseases still represent a major challenge for successful therapy. Neuronopathic lysosomal storage disorders, in particular, have high rates of mo...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - February 7, 2015 Category: Endocrinology Source Type: research

Fetal endocrine therapy for congenital adrenal hyperplasia should not be done
Publication date: Available online 23 January 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Walter L. Miller Prenatal treatment of congenital adrenal hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus remains a controversial experimental treatment. Review of data from animal experimentation and human trials indicates that dexamethasone cannot be considered safe for the fetus. In animals, prenatal dexamethasone decreases birth weight, affects renal, pancreatic beta cell and brain development, increases anxiety and predisposes...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - February 7, 2015 Category: Endocrinology Source Type: research

Novel treatment approaches for lysosomal disorders
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 - February 7, 2015 Category: Endocrinology Source Type: research

The role of antibodies in enzyme treatments and therapeutic strategies
Publication date: Available online 23 January 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Brian W. Bigger , Muhammad Saif , Gabor E. Linthorst Substitution of the defective lysosomal enzyme in lysosomal storage disorders (LSDs) often elicits antibody formation towards the infused protein. Aside from Gaucher disease, antibodies often lead to infusion associated reactions and a reduced biochemical response. In Pompe disease, antibody titer is predictive of clinical outcome, but this is less apparent in other LSDs and warrants further study. Few laboratories are capabl...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - February 7, 2015 Category: Endocrinology Source Type: research

Adolescents with Gender Dysphoria
Publication date: Available online 23 January 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Peggy T. Cohen-Kettenis , Daniel Klink Young people with gender dysphoria are increasingly seen by pediatric endocrinologists. Mental health child specialists assess the adolescent and give advice about psychological or medical treatment. Provided they fulfill eligibility and readiness criteria, adolescents may receive pubertal suspension, consisting of using gonadotrophin-releasing hormone analogues, later followed by cross-sex hormones (sex steroids of the experienced sex). I...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - February 7, 2015 Category: Endocrinology Source Type: research

Novel approaches to short stature therapy
Publication date: Available online 7 February 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Jan M. Wit , Wilma Oostdijk Besides growth hormone, several pharmaceutical products have been investigated for efficacy and safety in increasing short term growth or adult height. Short-term treatment with testosterone esters in boys with constitutional delay of growth and puberty is efficacious in generating secondary sex characteristics and growth acceleration. The addition of oxandrolone to growth hormone (GH) in Turner syndrome has an additive effect on adult height gain. T...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - February 7, 2015 Category: Endocrinology Source Type: research

The application of health technology assessment in osteoporosis
Publication date: December 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 28, Issue 6 Author(s): John A. Kanis , Mickaël Hiligsmann Because of the high costs to patients, health care payers and to society, it is important to allocate healthcare resources appropriately and efficiently. Health technology assessment aims to evaluate the clinical, economic, social, and ethical implications of a disease, and its prevention and treatment to guide national healthcare policies (e.g. clinical and research investment, reimbursement decisions). In this chapter, we review the va...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 3, 2014 Category: Endocrinology Source Type: research

Identification of patient profile for treatment
Publication date: December 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 28, Issue 6 Author(s): Rebecca J. Moon , Nicholas C. Harvey The WHO clinical definition of osteoporosis, based on a measurement of bone mineral density (BMD) by Dual Energy X-ray Absorptiometry, has been used globally since the mid-1990s. However, although this definition identifies those at greatest individual risk of fracture, in the population overall a greater total number of fractures occur in individuals with BMD values above the osteoporosis threshold. The inclusion of clinical risk factors, ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 3, 2014 Category: Endocrinology Source Type: research

Holistic management of DSD
This article describes the structure of the multidisciplinary team (MDT) at our centre, with contributions from key members of the team regarding their individual roles. The focus is on the newborn referred for assessment of ambiguous genitalia, rather than on individuals who present in the adolescent period or at other times, although the same MDT involvement is likely to be required. The approach to the initial assessment and management is discussed and the subsequent diagnosis and follow-up presented, with emphasis on the importance of careful transition and long-term support. (Source: Best Practice and Research Clinica...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 20, 2014 Category: Endocrinology Source Type: research

The GH/IGF-1 system in critical illness
This article reviews the current knowlegde and clinical practice of the use of rhGh and IGF-1 in critically ill patients, with a special focus on the trauma and burns patient population. Highlights ► The GH and IGF-1 axis plays a pivotal role in critical illness. ► IGF-1 modulates hepatic acute phase response signal pathway. ► IGF-1 serum levels increase during critical illness and protease activity decreases. ► GH ameliorates hypermetabolism and catabolism, but mortality increase is associated. ► With adequate nutrition, anabolic therapy may still be appropriate in select groups. (Source: Best Practice and Resea...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 20, 2014 Category: Endocrinology Source Type: research

Cellular and molecular mechanisms of mitochondrial function
Publication date: December 2012 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 26, Issue 6 Author(s): Laura D. Osellame , Thomas S. Blacker , Michael R. Duchen Mitochondria are membrane bound organelles present in almost all eukaryotic cells. Responsible for orchestrating cellular energy production, they are central to the maintenance of life and the gatekeepers of cell death. Thought to have originated from symbiotic ancestors, they carry a residual genome as mtDNA encoding 13 proteins essential for respiratory chain function. Mitochondria comprise an inner and outer membrane...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 20, 2014 Category: Endocrinology Source Type: research

Thyroglobulin antibody (TgAb) methods – Strengths, pitfalls and clinical utility for monitoring TgAb-positive patients with differentiated thyroid cancer
Publication date: October 2013 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 27, Issue 5 Author(s): Carole Spencer , Shireen Fatemi Thyroglobulin autoantibodies (TgAb) are detected at diagnosis or during treatment in approximately 25% of patients with differentiated thyroid cancer (DTC). When present, TgAb interferes with thyroglobulin (Tg) measurement causing falsely low or undetectable Tg immunometric assay (IMA) values that can mask disease. Guidelines mandate that every Tg test have TgAb measured simultaneously and quantitatively by immunoassay and not a recovery test. Th...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 20, 2014 Category: Endocrinology Source Type: research

External quality assessment of hormone determinations
Publication date: December 2013 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 27, Issue 6 Author(s): Catharine M. Sturgeon Hormone determinations are of central importance to the practice of Clinical Endocrinology, and ensuring their correct use and performance is a multidisciplinary responsibility involving clinicians, laboratory staff, manufacturers of diagnostic systems and healthcare regulatory agencies. All these professional groups have, therefore, an interest in external quality assessment (EQA) as an audit tool that can identify areas where use of tests in routine pra...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 20, 2014 Category: Endocrinology Source Type: research

Pitfalls in the measurement and interpretation of thyroid function tests
Publication date: December 2013 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 27, Issue 6 Author(s): Olympia Koulouri , Carla Moran , David Halsall , Krishna Chatterjee , Mark Gurnell Thyroid function tests (TFTs) are amongst the most commonly requested laboratory investigations in both primary and secondary care. Fortunately, most TFTs are straightforward to interpret and confirm the clinical impression of euthyroidism, hypothyroidism or hyperthyroidism. However, in an important subgroup of patients the results of TFTs can seem confusing, either by virtue of being discordant...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 20, 2014 Category: Endocrinology Source Type: research

Growth hormone replacement in adults – Current standards and new perspectives
Publication date: Available online 2 October 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Charlotte Höybye , Jens Sandahl Christiansen Growth hormone deficiency (GHD) in adults is an established clinical syndrome characterised by adverse body composition with more body fat than lean body mass, unfavourable blood lipids, decreased physical fitness and poor quality of life. No specific biomarker for GHD exists and the sometimes difficult diagnosis should be made in accordance with, established guidelines. Measurements of insulin-like growth factor I (IGF-I) is oft...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Types A and B Niemann-Pick disease
Publication date: Available online 16 October 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Edward H. Schuchman , Melissa P. Wasserstein Two distinct metabolic abnormalities are encompassed under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly in infancy and profound central nervous system involvement. They rarely survive beyond two years of age. Type ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment
Publication date: Available online 16 October 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Diane F. van Rappard , Jaap Jan Boelens , Nicole I. Wolf Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system leading to demyelination. The disease is classified in a late-infantile, juvenile and adult onset type based on the age of onset, all characterized by a variety of neurological s...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Fabry disease and the heart
Publication date: Available online 16 October 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Nora Seydelmann , Christoph Wanner , Stefan Störk , Georg Ertl , Frank Weidemann Fabry disease is induced by a mutation in the alpha-galactosidase A gene, causing a deficiency of the enzyme alpha-galactosidase A. (1) The enzyme defect leads to progressive intracellular accumulation of globotriaosylceramide in lysosomes of various tissues and organs, including heart, kidney and nerve system. Cardiac involvement is common and is presenting as concentric left ventricular hype...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Treatment of hypothyroidism with levothyroxine or a combination of levothyroxine plus L-triiodothyronine
Publication date: Available online 25 October 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Héctor F. Escobar-Morreale , José I. Botella-Carretero , Gabriella Morreale de Escobar At present, the drug of choice for the treatment of hypothyroidism is levothyroxine sodium, even though the thyroid gland secretes both thyroxine and 3′,3,5-triiodothyronine; the latter is the more active of the two at the cellular level because of its higher affinity for the nuclear thyroid hormone receptors. To date, combined levothyroxine plus liothyronine treatment for...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Gonadotrophin replacement for induction of fertility in hypogonadal men
Publication date: Available online 27 October 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Andrew A. Dwyer , Taneli Raivio , Nelly Pitteloud Congenital hypogonadotrophic hypogonadism (CHH) is a rare form of infertility caused by deficient secretion or action of gonadotrophin-releasing hormone. There is no consensus regarding the optimal approach to fertility treatment in CHH men. In most cases, appropriate hormonal treatment with human chorionic gonadotrophin with or without follicle stimulating hormone will induce testicular development, spermatogenesis and fertilit...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Hormone replacement strategies in adult endocrine disease
Publication date: Available online 13 November 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Bruno Allolio (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Substitution therapy in adult patients with congenital adrenal hyperplasia
Publication date: Available online 14 November 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Nicole Reisch Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited disorders caused by defective steroidogenesis. Steroid 21-hydroxylase deficiency (21OHD) is its most prevalent form, accounting for over 90% of all cases. Clinically classic 21OHD is characterised by glucocorticoid deficiency and adrenal androgen excess with (salt wasting form) or without (simple virilising form) additional mineralocorticoid deficiency. Life-saving glucocorticoid sub...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 17, 2014 Category: Endocrinology Source Type: research

Novel approaches to the treatment of osteoporosis
Publication date: Available online 17 July 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Natasha M. Appelman-Dijkstra , Socrates E. Papapoulos Despite the availability of efficacious treatments for fracture reduction in patients with osteoporosis, there are still unmet needs requiring a broader range of therapeutics. In particular, agents that are capable of replacing already lost bone and that also drastically reduce the risk of non-vertebral fractures are needed. Studies of rare bone diseases in humans and animal genetics have identified targets in bone cells for th...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 12, 2014 Category: Endocrinology Source Type: research

Monitoring of osteoporosis therapy
Publication date: Available online 17 July 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Olivier Bruyère , Jean-Yves Reginster Over the past two decades, major advances have been made in the number and range of agents available for the treatment of osteoporosis, all with proven anti-fracture efficacy. Unfortunately, compliance with these treatments is not optimal, and a number of patients could be considered as non-responders. Consequently, monitoring anti-osteoporotic therapy could be part of successful osteoporosis management. Currently, no formal well-accept...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 12, 2014 Category: Endocrinology Source Type: research

Secondary osteoporosis: Pathophysiology & diagnosis
Publication date: Available online 18 July 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Gregory R. Emkey , Sol Epstein Osteoporosis is a skeletal disease characterized by decreased bone mass and microarchitectural changes in bone tissue that increase the susceptibility to fracture. Secondary osteoporosis is loosely defined as low bone mineral density or increased risk of fragility fracture caused by any factor other than aging or postmenopausal status. The purpose of this review is to discuss the current understanding of the pathophysiology and contribution to fractu...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 12, 2014 Category: Endocrinology Source Type: research

The role of radioiodine therapy in benign nodular goitre
Publication date: August 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 28, Issue 4 Author(s): Steen Joop Bonnema , Søren Fast , Laszlo Hegedüs For treatment of benign nodular goitre the choice usually stands between surgery and 131I therapy. 131I therapy, used for 30 years for this condition, leads to a goitre volume reduction of 35–50% within 1–2 years. However, this treatment has limited efficacy if the thyroid 131I uptake is low or if the goitre is large. Recombinant human TSH (rhTSH)-stimulated 131I therapy significantly improves goitre reduct...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 12, 2014 Category: Endocrinology Source Type: research

The advent of ultrasound-guided ablation techniques in nodular thyroid disease: Towards a patient-tailored approach
Publication date: August 2014 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 28, Issue 4 Author(s): Enrico Papini , Claudio M. Pacella , Irene Misischi , Rinaldo Guglielmi , Giancarlo Bizzarri , Helle Døssing , Laszlo Hegedus Surgery is the long-established therapeutic option for benign thyroid nodules, which steadily grow and become symptomatic. The cost of thyroid surgery, the risk of temporary or permanent complications, and the effect on quality of life, however, remain relevant concerns. Therefore, various minimally invasive treatments, directed towards office-base...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 12, 2014 Category: Endocrinology Source Type: research