Animal Models of Endocrine Disruption
Publication date: Available online 6 April 2018 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Heather B. Patisaul, Suzanne E. Fenton, David Aylor Endocrine 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 e...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 13, 2018 Category: Endocrinology Source Type: research

Animal models of endometriosis: Replicating the aetiology and symptoms of the human disorder
Publication date: Available online 6 April 2018 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Ioannis Simitsidellis, Douglas A. Gibson, Philippa T.K. Saunders Endometriosis 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 vali...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 13, 2018 Category: Endocrinology Source Type: research

Central Adrenal Insufficiency In Children and Adolescents
Publication date: Available online 10 April 2018 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Giuseppa Patti, Chiara Guzzeti, Natascia Di Iorgi, Anna Elsa Maria Allegri, Flavia Napoli, Sandro Loche, Mohamad Maghnie Central 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 ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 13, 2018 Category: Endocrinology Source Type: research

Preface – Part 2: Circadian and endocrine rhythms
Publication date: December 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 31, Issue 6 Author(s): Andries Kalsbeek, Eric Fliers (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 8, 2017 Category: Endocrinology Source Type: research

Circadian and endocrine rhythms
Publication date: October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 31, Issue 5 Author(s): Andries Kalsbeek, Eric Fliers (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 7, 2017 Category: Endocrinology Source Type: research

Hormones in milk
Publication date: August 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 31, Issue 4 Author(s): Andreas Hoeflich, Wieland Kiess (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - December 6, 2017 Category: Endocrinology Source Type: research

Analytical Considerations and General Diagnostic and Therapeutic Ramifications of Milk Hormones during Lactation
Publication date: Available online 24 November 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Carol L. Wagner, John E. Baatz, Danforth Newton, Bruce W. Hollis In this review, we will discuss the changes that occur in the mammary gland from pregnancy to lactation and the issues surrounding the analysis of circulating and milk hormones during the stages of lactogenesis. There is a cascade of events that must occur to achieve milk synthesis, milk ejection, and successful transfer to the breastfeeding infant. The adequacy and success of this process is no small measure and ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 29, 2017 Category: Endocrinology Source Type: research

Nutritional programming by glucocorticoids in breast milk: Targets, mechanisms and possible implications
Publication date: Available online 19 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Jonneke J. Hollanders, Annemieke C. Heijboer, Bibian van der Voorn, Joost Rotteveel, Martijn J.J. Finken Vertical transmission of glucocorticoids via breast milk might pose a mechanism through which lactating women could prepare their infants for the postnatal environment. The primary source of breast-milk glucocorticoids is probably the systemic circulation. Research from our group showed that milk cortisol and cortisone concentrations follow the diurnal rhythm of maternal hypo...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

MicroRNAs: Milk's epigenetic regulators
Publication date: Available online 20 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Bodo C. Melnik, Gerd Schmitz Our perception of milk has changed from a “simple food” to a highly sophisticated maternal–neonatal nutrient and communication system orchestrating early programming of the infant. Milk miRNAs delivered by exosomes and milk fat globules derived from mammary gland epithelial cells play a key role in this process. Exosomes resist the harsh intestinal environment, are taken up by intestinal cells via endocytosis, and reach the systemic...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Iodine in dairy milk: Sources, concentrations and importance to human health
Publication date: Available online 20 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Olivia L. van der Reijden, Michael B. Zimmermann, Valeria Galetti Milk and dairy products are major iodine sources in industrialized countries. However, consumption of milk and dairy, as well as their iodine concentrations, vary widely, making them an unpredictable iodine source. Milk iodine concentrations in industrialized countries range from 33 to 534 μg/L and are influenced by the iodine intake of dairy cows, goitrogen intake, milk yield, season, teat dipping with io...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Functional analysis of the IGF-system in milk
Publication date: Available online 20 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Andreas Hoeflich, Zianka Meyer The development of milk during evolution is considered a more recent step to provide the neonate with adequate amounts of energy, nutrients, and specific hormonal signals thereby, granting a fast and efficient rate of postnatal growth and development. Since the insulin- or the insulin-like growth factor (IGF) systems were evolved much earlier, it can be assumed that the functionality of the IGF-system has been integrated into the novel matrix milk ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Thyrotropic hormones
Publication date: Available online 26 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Meera Mallya, Amanda L. Ogilvy-Stuart Thyroid hormones are crucial for normal cognition and neurodevelopment in children. The introduction of the screening programs for congenital hypothyroidism has decreased the incidence of untreated congenital hypothyroidism. As maternal thyroid disease is common, and may impact on thyroid gland development and function in the fetus, optimal management is crucial. This review discusses thyroid function and the impact of maternal thyroid disea...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Circadian clock-gastrointestinal peptide interaction in peripheral tissues and the brain
Publication date: Available online 26 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Dominic Landgraf, Anne-Marie Neumann, Henrik Oster Food intake and sleep are two mutually exclusive behaviors and both are normally confined to opposing phases of the diurnal cycle. The temporal coordination of behavior and physiology along the 24-h day–night cycle is organized by a network of circadian clocks that orchestrate transcriptional programs controlling cellular physiology. Many of the peptide hormones of the gastrointestinal tract are not only secreted in a circ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Neohormones in milk
Publication date: Available online 27 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Richard Ivell, Ravinder Anand-Ivell Neohormone systems evolved specifically to regulate those mammalian traits, such as internal fertilization, pregnancy and lactation, which have proved to be central to the success, environmental independence, and adaptability of mammals as a vertebrate group. Neohormones such as oxytocin or relaxin are not only involved in the regulation of mammary gland development and function, but are also significant components of milk itself. Particularly...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Physiology of milk secretion
Publication date: Available online 31 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Sandrine Truchet, Edith Honvo-Houéto Milk is a unique and complete nutritive source for the mammal neonate, also providing immune protection and developmental signals. Lactation is a complex process, proper to the mother and child dyad, and including numerous variables ranging from psychological aspects to the secretory functioning of the mammary epithelial cells, all contributing to a successful breastfeeding. This review gives an integrated overview of the physiology of...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Human studies on hypothalamo-pituitary-adrenal (HPA) axis
Publication date: Available online 1 November 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Kamani Liyanarachchi, Richard Ross, Miguel Debono The daily rhythm of the hypothalamo-pituitary-adrenal (HPA) axis is regulated by the central clock in the suprachiasmatic nucleus. Cortisol, a glucocorticoid, acts as a secondary messenger between the central clock and the peripheral tissues. Changes in clock time, as seen in shift workers, alters the HPA axis and results in metabolic disturbances associated with ill health. Depression, anorexia nervosa and obstructive sleep apno...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Endocrine rhythms of growth hormone release: Insights from animal studies
Discussions will focus on the emergence in variations in the number and frequency of GH secretory events, and the amounts of GH released (peak and basal). Animal studies have contributed significantly to our understanding of the processes that regulate GH release. However, translation of knowledge from animal models to benefit our understanding of human physiology is sometimes limited. To overcome these limitations, it is critical that we reconcile the cause and consequences of differences in GH release between humans and model organisms. In doing so, we can embrace emerging technologies that will rapidly advance our knowl...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

The hormone melatonin: Animal studies
Publication date: Available online 1 November 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): P. Pevet, P. Klosen, M.P. Felder-Schmittbuhl The Melatonin (MLT), secreted rhythmically by the pineal, is an efferent hormonal signal of the circadian clock. MLT presents overall pleitropic effects but it is the role of MLT as a hormonal circadian signal which is the best documented. MLT-receptors are present in numerous structures/organs and the MLT is now considered as an endogenous synchronizer within the circadian system. The presence of MLT-receptors within the circadian cl...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Daily rhythms count for female fertility
Publication date: Available online 1 November 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Valérie Simonneaux, Thibault Bahougne, Eleni Angelopoulou Female ovulation depends on a surge in circulating luteinizing hormone (LH) which occurs at the end of the resting period and requests high circulating estradiol. This fine tuning involves both an estradiol feedback as an indicator of oocyte maturation, and the master circadian clock of the suprachiasmatic nuclei as an indicator of the time of the day. This review describes the mechanisms through which daily time c...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Central and peripheral roles of vasopressin in the circadian defense of body hydration
Publication date: Available online 13 November 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Claire Gizowski, Eric Trudel, Charles W. Bourque Vasopressin is a neuropeptide synthesized by specific subsets of neurons within the eye and brain. Studies in rats and mice have shown that vasopressin produced by magnocellular neurosecretory cells (MNCs) that project to the neurohypophysis is released into the blood circulation where it serves as an antidiuretic hormone to promote water reabsorption from the kidney. Moreover vasopressin is a neurotransmitter and neuromodulator ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Lipids in human milk
Publication date: Available online 14 November 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Hans Demmelmair, Berthold Koletzko Fat is the main energy providing component in human milk and comprising a complex mixture of different lipid species, with quantitative dominance of triglycerides. After elucidating the fatty acid composition, more recent research has looked at influencing factors and the importance of specific lipids. Here we review quantitative aspects of maternal metabolism which contribute to the milk fatty acid composition, especially considering essentia...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - November 19, 2017 Category: Endocrinology Source Type: research

Regulatory Aspects of The Human Hypothalamus-Pituitary-Thyroid Axis
Publication date: Available online 1 October 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Ferdinand Roelfsema, Anita Boelen, Andries Kalsbeek, Eric Fliers Thyroid hormones are essential for growth, differentiation and metabolism. during prenatal and postnatal life. The hypothalamus-pituitary-thyroid (HPT)-axis is optimized for these actions. Knowledge of this hormonal axis is derived from decades of experiments in animals and man, and more recently from spontaneous mutations in man and constructed mutations in mice. This review examines the HPT-axis in relation to 24 ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 2, 2017 Category: Endocrinology Source Type: research

The hypothalamic –pituitary–thyroid axis and biological rhythms: The discovery of TSH's unexpected role using animal models
Publication date: Available online 21 September 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Keisuke Ikegami, Takashi Yoshimura Thyroid hormones (TH) are important for development, growth, and metabolism. It is also clear that the synthesis and secretion of TH are regulated by the hypothalamic–pituitary–thyroid (HPT) axis. Animal models have helped advance our understanding of the roles and regulatory mechanisms of TH. The animals' bodies develop through coordinated timing of cell division and differentiation. Studies of frog metamorphosis led to the disco...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 1, 2017 Category: Endocrinology Source Type: research

Circadian aspects of adipokine regulation in rodents
Publication date: Available online 22 September 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Etienne Challet Most hormones display daily fluctuations of secretion during the 24-h cycle. This is also the case for adipokines, in particular the anorexigenic hormone, leptin. The temporal organization of the endocrine system is principally controlled by a network of circadian clocks. The circadian network comprises a master circadian clock, located in the suprachiasmatic nucleus of the hypothalamus, synchronized to the ambient light, and secondary circadian clocks found in...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 23, 2017 Category: Endocrinology Source Type: research

The hypothalamic-pituitary-thyroid axis and biological rhythms: the discovery of TSH ’s unexpected role using animal models
Publication date: Available online 21 September 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Keisuke Ikegami, Takashi Yoshimura Thyroid hormones (TH) are important for development, growth, and metabolism. It is also clear that the synthesis and secretion of TH are regulated by the hypothalamic-pituitary-thyroid (HPT) axis. Animal models have helped advance our understanding of the roles and regulatory mechanisms of TH. The animals’ bodies develop through coordinated timing of cell division and differentiation. Studies of frog metamorphosis led to the discovery o...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 22, 2017 Category: Endocrinology Source Type: research

Circadian and ultradian patterns of HPA-axis activity in rodents: significance for brain functionality
Publication date: Available online 20 September 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Femke S. den Boon, R. Angela Sarabdjitsingh The hypothalamo-pituitary-adrenal (HPA) axis comprises interactions between the hypothalamus, the pituitary and the adrenal glands and its activation results in the release of corticosteroid hormones. Corticosteroids are secreted from the adrenal gland in a distinct 24-hour circadian rhythm overarching an ultradian rhythm, which consists of hourly corticosteroid pulses exposing target tissues to rapidly changing steroid levels. On to...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - September 21, 2017 Category: Endocrinology Source Type: research

Which patient with thyroid cancer deserves systemic therapy and when?
Publication date: Available online 18 August 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Furio Pacini Distant metastases from differentiated thyroid cancer (DTC) are a rare event, occurring in less than 10% of patients with persistent or recurrent clinical disease. About 50% of these patients do respond to radioiodine (RAI) therapy, either with complete remission or stabilization of the disease on a long term period. Unfortunately, another 50% of these patients are refractory to the treatment with RAI, either from the first appearance of distant metastases or during ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - August 19, 2017 Category: Endocrinology Source Type: research

Protein kinase inhibitors for the treatment of advanced and progressive radiorefractory thyroid tumors: From the clinical trials to the real life
Publication date: Available online 15 June 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Antonio Matrone, Laura Valerio, Letizia Pieruzzi, Carlotta Giani, Virginia Cappagli, Loredana Lorusso, Laura Agate, Luciana Puleo, David Viola, Valeria Bottici, Marzia Del Re, Eleonora Molinaro, Romano Danesi, Rossella Elisei The last ten years have been characterized by the introduction in the clinical practice of new drugs named tyrosine kinase inhibitors for the treatment of several human tumors. After the positive conclusion of two international multicentric, randomized phase I...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - July 25, 2017 Category: Endocrinology Source Type: research

Genetics of thyroid disorders
Publication date: March 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 31, Issue 2 Author(s): Luca Persani (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - June 23, 2017 Category: Endocrinology Source Type: research

Proteine kinase inhibitors for the treatment of advanced and progressive radiorefractory thyroid tumors: From the clinical trials to the real life
Publication date: Available online 15 June 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Antonio Matrone, Laura Valerio, Letizia Pieruzzi, Carlotta Giani, Virginia Cappagli, Loredana Lorusso, Laura Agate, Luciana Puleo, David Viola, Valeria Bottici, Marzia Del Re, Eleonora Molinaro, Romano Danesi, Rossella Elisei The last ten years have been characterized by the introduction in the clinical practice of new drugs named tyrosine kinase inhibitors for the treatment of several human tumors. After the positive conclusion of two international multicentric, randomized phase I...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - June 16, 2017 Category: Endocrinology Source Type: research

Disorder of thyroid hormone transport into the tissues
Publication date: Available online 24 May 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Stefan Groeneweg, W. Edward Visser, Theo J. Visser Transport of thyroid hormone (TH) across the plasma membrane is essential for intracellular TH metabolism and action, and this is mediated by specific transporter proteins. During the last two decades several transporters capable of transporting TH have been identified, including monocarboxylate transporter 8 (MCT8), MCT10 and organic anion transporting polypeptide 1C1 (OATP1C1). In particular MCT8 and OATP1C1 are important for the ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 24, 2017 Category: Endocrinology Source Type: research

Novel concepts for initiating multitargeted kinase inhibitors in radioactive iodine refractory differentiated thyroid cancer
Publication date: Available online 12 May 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): R.Michael Tuttle, Marcia S. Brose, Enrique Grande, Sun Wook Kim, Makoto Tahara, Mona M. Sabra Multitargeted kinase inhibitors have been shown to improve progression-free survival in patients with structurally progressive, radioactive-iodine refractory differentiated thyroid cancer. While the inclusion criteria for phase 3 clinical trials and clinical practice guidelines provide guidance with regard to the minimal requirements that need to be met prior to initiation of a multitargete...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 13, 2017 Category: Endocrinology Source Type: research

Chemotherapy and tyrosine-kinase inhibitors for medullary thyroid cancer
Publication date: Available online 28 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Julien Hadoux, Martin Schlumberger Medullary thyroid cancer (MTC) represents 3% of all clinical thyroid cancers and arises from thyroid C cells that produce calcitonin. Locally advanced or metastatic MTC requires a careful work-up including measurement of serum calcitonin and carcinoembryonic antigen, determination of their doubling time and comprehensive imaging to determine the extent of the disease, its aggressiveness, and the need for treatment. Cytotoxic chemotherapy can cont...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2017 Category: Endocrinology Source Type: research

Disorders of H2O2 Generation
Publication date: Available online 10 May 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Marina Muzza, Laura Fugazzola After the identification of thyroid H2O2 generation system (DUOX) and of its maturation factors (DUOXA), defects in DUOX2 and/or DUOXA2 were rapidly recognized as the possible cause of congenital hypothyroidism (CH) due to thyroid dyshormonogenesis. The present Review reports data on the prevalence of DUOX2 mutations, which is variable among different series but invariably high, pointing to DUOX2 defects as one of the leading causes of dyshormonogenesis...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2017 Category: Endocrinology Source Type: research

Management of Tyrosine Kinase Inhibitors (TKI) Side Effects in Differentiated and Medullary Thyroid Cancer Patients
Publication date: Available online 10 May 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): C. Resteghini, S. Cavalieri, D. Galbiati, R. Granata, S. Alfieri, C. Bergamini, P. Bossi, L. Licitra, L.D. Locati Four tyrosine kinase inhibitors (TKIs) have been recently licensed in thyroid cancer (TC), sorafenib and lenvatinib for differentiated TC, vandetanib and cabozantinib for medullary TC. Others TKIs such as axitinib, pazopanib, sunitinib, have been tested within phase II trials. The toxicity burden associated to TKIs is not negligible. Drug reductions and interruptions are...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2017 Category: Endocrinology Source Type: research

Pendred Syndrome
Publication date: Available online 10 May 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Jean-Louis Wémeau, Peter Kopp Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional i...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 11, 2017 Category: Endocrinology Source Type: research

Radioactive iodine (RAI) therapy for metastatic differentiated thyroid cancer
Publication date: Available online 9 May 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Frederik A. Verburg, Heribert Hänscheid, Markus Luster Differentiated thyroid cancer (DTC) is the most common endocrine malignancy. It usually has a comparatively benign course. If properly executed, radioiodine therapy can provide an effective treatment of even advanced, metastatic DTC. A major problem in determining the right RAI for a patient with metastatic disease is a comparative lack of evidence. There are no reports on randomized controlled trials in this patient group w...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 10, 2017 Category: Endocrinology Source Type: research

The molecular basis for RET tyrosine-kinase inhibitors in thyroid cancer
Publication date: Available online 10 May 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Valentina De Falco, Francesca Carlomagno, Hong-yu Li, Massimo Santoro RET receptor tyrosine kinase acts as a mutated oncogenic driver in several human malignancies and it is over-expressed in other cancers. Small molecule compounds with RET tyrosine kinase inhibitory activity are being investigated for the targeted treatment of these malignancies. Multi-targeted compounds with RET inhibitory concentration in the nanomolar range have entered clinical practice. This review summarizes ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 10, 2017 Category: Endocrinology Source Type: research

Growth hormone disorders in adults
Publication date: February 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism, Volume 31, Issue 1 Author(s): Paolo Marzullo, Flavia Prodam, Gianluca Aimaretti (Source: Best Practice and Research Clinical Endocrinology and Metabolism)
Source: Best Practice and Research Clinical Endocrinology and Metabolism - May 4, 2017 Category: Endocrinology Source Type: research

Chemotherapy and tyrosine-kinase inhibitors for medullary thryoid cancer
Publication date: Available online 28 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Julien Hadoux, Martin Schlumberger Medullary thyroid cancer (MTC) represents 3% of all clinical thyroid cancers and arises from thyroid C cells that produce calcitonin. Locally advanced or metastatic MTC requires a careful work-up including measurement of serum calcitonin and carcinoembryonic antigen, determination of their doubling time and comprehensive imaging to determine the extent of the disease, its aggressiveness, and the need for treatment. Cytotoxic chemotherapy can cont...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 29, 2017 Category: Endocrinology Source Type: research

Inheritable and sporadic non-autoimmune hyperthyroidism
Publication date: Available online 22 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Carolina Ferraz, Ralf Paschke Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FN...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 23, 2017 Category: Endocrinology Source Type: research

Disorders of Thyroid Morphogenesis
Publication date: Available online 21 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Rasha Abu-Khudir, Stéphanie Larrivée-Vanier, Jonathan Wasserman, Johnny Deladoëy Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a sporadic disorder although a reported familial enrichment, variation of incidence by ethnicity and the monogenic defects associated mainly with athyreosis or orthotopic thyroid hypoplasia, suggest a genetic co...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 22, 2017 Category: Endocrinology Source Type: research

The role of GLIS3 in thyroid disease as part of a multisystem disorder
Publication date: Available online 21 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): P. Dimitri Congenital hypothyroidism is the most common hereditary endocrine disorder. In a small number of cases, mutations have been identified that are associated with maldevelopment and maldescent of the thyroid. Some of these mutations present as syndromes with a multisystem phenotype such as NKX2-1, PAX8, and FOXE. The association of permanent neonatal diabetes and congenital hypothyroidism was first reported in 2003 and subsequently led to the identification GLIS3 as the mu...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 22, 2017 Category: Endocrinology Source Type: research

Genetics of thyroid function
Publication date: Available online 18 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Marco Medici, Theo J. Visser, Robin P. Peeters Recent studies show that subtle variations in thyroid function, including subclinical thyroid dysfunction, and even variation in thyroid function within the normal range, are associated with morbidity and mortality. It is estimated that 40-65% of the inter-individual variation in serum TSH and FT4 levels is determined by genetic factors. To identify these factors, various linkage and candidate gene studies have been performed in the p...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 19, 2017 Category: Endocrinology Source Type: research

The multiple genetic causes of central hypothyroidism
Publication date: Available online 17 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Luca Persani, Marco Bonomi An insufficient stimulation by thyrotropin (TSH) of an otherwise normal thyroid gland represents the cause of Central Hypothyrodism (CeH). CeH is about 1,000-folds rarer than Primary Hypothyroidism and often represents a real challenge for the clinicians, mainly because they cannot rely on adequately sensitive parameters for diagnosis or management, as it occurs with circulating TSH in PH. Therefore, CeH diagnosis can be frequently missed or delayed in p...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 18, 2017 Category: Endocrinology Source Type: research

Hypothyroidism associated with parathyroid disorders
Publication date: Available online 15 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Giovanna Mantovani, Marta Elli Francesca, Sabrina Corbetta Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 16, 2017 Category: Endocrinology Source Type: research

Iodide Handling Disorders (NIS, TPO, TG, IYD)
Publication date: Available online 4 April 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Héctor M. Targovnik, Cintia E. Citterio, Carina M. Rivolta Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000 – 3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neon...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 5, 2017 Category: Endocrinology Source Type: research

Resistance to thyrotropin
Publication date: Available online 30 March 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Helmut Grasberger, Samuel Refetoff Resistance to thyrotropin (RTSH) is broadly defined as reduced sensitivity of thyroid follicle cells to stimulation by biologically active TSH due to genetic defects. Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Conceptually, defects leading to RTSH impair both aspects of TSH-mediated acti...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 31, 2017 Category: Endocrinology Source Type: research

Cardiovascular alterations in adult GH deficiency
Publication date: Available online 30 March 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Carolina Di Somma, Elisabetta Scarano, Silvia Savastano, Maria Cristina Savanelli, Rosario Pivonello, Annamaria Colao There is a growing body of evidence indicating that patients with adult GH deficiency (GHD) are characterized by a cluster of traditional and emerging cardiovascular risk factors and markers, which can significantly increase their cardiovascular morbidity and mortality possibly linked to aberrations in GH status. Patients with adult GHD present multiple different c...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 31, 2017 Category: Endocrinology Source Type: research

Growth hormone deficiency in treated acromegaly and active Cushing's syndrome
Publication date: Available online 9 March 2017 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Anna Maria Formenti, Filippo Maffezzoni, Mauro Doga, Gherardo Mazziotti, Andrea Giustina Growth hormone deficiency (GHD) in adults is characterized by reduced quality of life and physical fitness, skeletal fragility, increased weight and cardiovascular risk. It may be found in (over-) treated acromegaly as well as in active Cushing's syndrome. Hypopituitarism may develop in patients after definitive treatment of acromegaly, although the exact prevalence of GHD in this population is...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 27, 2017 Category: Endocrinology Source Type: research