Review Article |
Featured
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News & Views |
Beige adipocytes—will they beat obesity?
The mechanistic link between the FTO locus and risk of obesity has remained elusive. However, a new study presents compelling evidence suggesting that the browning of white adipocytes into beige adipocytes (together with regulation of thermogenesis), might be an important and potentially modifiable pathway for development of obesity therapeutics.
- Camilla H. Sandholt
- & Oluf Pedersen
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Review Article |
Short and tall stature: a new paradigm emerges
In this Review, Jeffrey Baron and colleagues explore the latest discoveries in the molecular and cell biology of childhood growth and in the clinical genetics of childhood growth disorders. These findings challenge the established theory that childhood growth is primarily controlled by growth hormone and insulin-like growth factor 1, leading the authors to suggest a broader framework for understanding linear growth disorders.
- Jeffrey Baron
- , Lars Sävendahl
- & Ola Nilsson
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Research Highlight |
Gut microbiota, host genetics and diet interact to affect the risk of developing obesity and the metabolic syndrome
- Claire Greenhill
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Review Article |
Paget's disease of bone—genetic and environmental factors
Paget's disease is a disorder of bone that manifests in one or several bones and is initiated by osteoclast-induced osteolytic lesions. In addition to a genetic cause, environmental factors, including measles virus, have been proposed to have a role in the pathogenesis of Paget's disease. Here, Frederick R. Singer discusses the present knowledge and controversies surrounding the aetiology of Paget's disease.
- Frederick R. Singer
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News & Views |
DDT, endocrine disruption and breast cancer
Developmental exposure to endocrine disruptors is suspected to be one of the main factors responsible for the increased incidence of breast cancer in industrialized countries. New data published in the Journal of Clinical Endocrinology and Metabolism show that exposure to dichlorodiphenyltrichloroethane during fetal life is associated with an increased risk of breast cancer.
- Ana M. Soto
- & Carlos Sonnenschein
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Review Article |
Congenital generalized lipodystrophies—new insights into metabolic dysfunction
Patients with congenital generalized lipodystrophy (CGL) have a near total absence of body fat owing to mutations in genes involved in lipid storage. This Review describes the genetic pathophysiology of the four main forms of CGL and makes recommendations for their appropriate diagnosis and management. Specific therapies for CGL are currently limited, but the authors highlight novel drugs currently in development to treat this condition.
- Nivedita Patni
- & Abhimanyu Garg
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Research Highlight |
Response to antidiabetic drugs affected by SNPs that alter genomic binding of PPARγ
- Claire Greenhill
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Consensus Statement
| Open AccessEuropean Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
Congenital hypogonadotropic hypogonadism (CHH)—a rare disorder caused by deficient production, secretion or action of gonadotropin-releasing hormone—results in an absence of puberty and infertility. Here, Ulrich Boehm and colleagues summarize approaches for the diagnosis and treatment of CHH in light of recent discoveries. This Consensus Statement differs from existing guidelines for the treatment of hypogonadism as it focuses exclusively on CHH.
- Ulrich Boehm
- , Pierre-Marc Bouloux
- & Jacques Young
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Review Article |
Cognitive and autonomic determinants of energy homeostasis in obesity
Increased intake and reduced expenditure of energy results in obesity and must be appropriately controlled to prevent this disease state. In this Review, Denis Richard discusses how the central nervous system and peripheral signals from the gut interact to control energy homeostasis and thermogenesis of brown adipose tissue in states of obesity.
- Denis Richard
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Research Highlight |
Mutations underlying azoospermia identified on the X chromosome
- Claire Greenhill
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Review Article |
Disorders of sex development: effect of molecular diagnostics
Disorders of sex development (DSDs) are caused by a broad range of genetic changes, but can be difficult to diagnose. In the past few years, advances have been made in molecular diagnostics that could affect the diagnosis of DSDs. This Review analyses the contribution of molecular biology techniques to the diagnosis and management of DSDs, as well as discussing advances in these techniques.
- John C. Achermann
- , Sorahia Domenice
- & Berenice B. Mendonca
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Review Article |
Hypothalamic innate immune reaction in obesity
Obesity is associated with inflammatory responses in the brain, particularly the hypothalamus, which could open up new therapeutic targets. This Review will discuss the innate immune response in the hypothalamic neuron–glial circuit to obesity and associated metabolic disorders and propose corresponding strategies for treating obesity.
- Stefanie Kälin
- , Frank L. Heppner
- & Chun-Xia Yi
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Review Article |
Chylomicronaemia—current diagnosis and future therapies
Chylomicronaemia is a challenging metabolic disorder that presents in two distinct primary forms: rare monogenic early-onset chylomicronaemia and polygenic late-onset chylomicronaemia. In this Review, Amanda Brahm and Robert Hegele discuss the genetic basis of the disorder and present a framework for the diagnosis and treatment of patients with severe hypertriglyceridaemia that results from chylomicronaemia.
- Amanda J. Brahm
- & Robert A. Hegele
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Research Highlight |
Hepatic lipogenesis independent of insulin in type 2 diabetes mellitus—a paradox clarified
- Joana Osório
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Review Article |
TSH-receptor-expressing fibrocytes and thyroid-associated ophthalmopathy
Thyroid-associated ophthalmopathy (TAO) is an orbital manifestation of Graves disease. The pathogenesis of TAO is still not well understood and effective therapies for TAO are lacking. Here, Terry Smith reviews the processes that underlie autoimmunity and inflammation in the orbit of patients with TAO, with a focus on the role of infiltrating fibrocytes expressing the TSH receptor. Therapeutic implications are also discussed.
- Terry J. Smith
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Research Highlight |
The many faces of leptin—a novel role for leptin signalling in obesity-induced hypertension
- Joana Osório
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Year in Review |
Genetics improves understanding of adrenocortical tumours
2014 has seen advances in our understanding of benign and malignant tumours of the adrenal cortex, particularly in Cushing syndrome. Modern genetics has generated a flurry of data. The challenge is to give sense to them; however, the difficulties of collecting the clinical data must not be underestimated.
- Xavier Bertagna
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Research Highlight |
Epigenetic changes lead to impaired wound healing in patients with T2DM
- Peter Sidaway
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Review Article |
Paraganglioma and phaeochromocytoma: from genetics to personalized medicine
During the past 15 years, our understanding of phaeochromocytoma and/or paraganglioma and the management of affected patients and their relatives have been revolutionized. Particular progress has been made in our understanding of the genetic changes underlying these tumours. This Review discusses the key advances that have occurred over this period.
- Judith Favier
- , Laurence Amar
- & Anne-Paule Gimenez-Roqueplo
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Correspondence |
Hypertension in obesity: the role of hypothalamic inflammation
- Jae Il Shin
- & Dongsheng Cai
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Review Article |
Mitochondrial dynamics in the central regulation of metabolism
Mitochondria have a fundamental role in regulating metabolic pathways and in maintaining energy balance. In this Review, Carole Nasrallah and Tamas Horvath discuss the contribution of mitochondrial function, in particular mitochondrial dynamics, to central metabolism from the hypothalamic perspective and describe how mitochondrial dysfunction can lead to the development of metabolic diseases.
- Carole M. Nasrallah
- & Tamas L. Horvath
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Review Article |
Gynaecomastia—pathophysiology, diagnosis and treatment
Gynaecomastia is a common condition that is generally benign. However, the condition can cause localised pain and might be the result of a serious underlying illness or medication. In this Review, the latest advances in the pathophysiology, evaluation and management of gynaecomastia are discussed.
- Harmeet S. Narula
- & Harold E. Carlson
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Review Article |
DSDs: genetics, underlying pathologies and psychosexual differentiation
Disorders of sex development (DSDs) arise when the tightly regulated process of sex determination in the developing bipotential gonads is disrupted. In this Review, the authors discuss mutations in sex determining genes that are associated with DSDs, as well as classification of the disorders and the psychosexual differentiation of individuals with DSDs.
- Valerie A. Arboleda
- , David E. Sandberg
- & Eric Vilain
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Review Article |
Pax-8–PPAR-γ fusion protein in thyroid carcinoma
Approximately one-third of follicular thyroid carcinomas containPAX8–PPARG gene fusions, which result in the production of an oncogenic Pax 8–PPAR-γ fusion protein (PPFP). Here, Raman and Koenig describe the structure and function of PAX8 and PPARGand their protein products. They discuss possible mechanisms underlying the oncogenic action of PPFP and highlight the potential of PPFP as a diagnostic marker in thyroid nodule evaluation and as a therapeutic target.
- Priyadarshini Raman
- & Ronald J. Koenig
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Review Article |
Hormonal and neural mechanisms of food reward, eating behaviour and obesity
In this Review, the authors explore the endocrine and neural basis of reward mechanisms triggered in response to food, and how they are influenced by obesity and overeating. They also discuss the relationship between excessive food intake and addiction-like eating behaviours.
- Susan Murray
- , Alastair Tulloch
- & Nicole M. Avena
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Review Article |
Possible fetal determinants of male infertility
Accumulating evidence suggests that common reproductive problems, such as male infertility and testicular cancer, originate during fetal development. In this Review, Anders Juul and colleagues discuss the current knowledge of a variety of male reproductive issues, focusing on the developmental origins of testicular pathologies in the context of male infertility.
- Anders Juul
- , Kristian Almstrup
- & Niels E. Skakkebæk
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Research Highlight |
Founder mutations identified in an inherited form of the metabolic syndrome
- David Holmes
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Review Article |
Circadian clock control of endocrine factors
Adequate circadian oscillation of endocrine factors is essential in the maintenance of metabolic homeostasis. The authors of this Review explain the influence of extrinsic and intrinsic factors on endocrine circadian rhythms and how dysregulation of these rhythms can lead to disease in animals and humans. They also discuss therapeutic strategies to restore circadian rhythmicity and improve metabolism.
- Karen L. Gamble
- , Ryan Berry
- & Martin E. Young