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Endocrine Reviews

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https://www.readbyqxmd.com/read/29438472/klinefelter-syndrome-integrating-genetics-neuropsychology-and-endocrinology
#1
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29390102/extracellular-vesicles-in-human-reproduction-in-health-and-disease
#2
C Simon, D W Greening, D Bolumar, N Balaguer, L A Salamonsen, F Vilella
Extensive evidence suggests that the release of membrane enclosed compartments, more commonly known as extracellular vesicles (EVs), is a potent newly identified mechanism of cell-to-cell communication both in normal physiology and in pathological conditions. This article specifically reviews evidence about the formation and release of different EVs, their definitive markers and cargo content in reproductive physiological processes, and their capacity to convey information between cells through the transfer of functional protein and genetic information to alter phenotype and function of recipient cells associated with reproductive biology...
January 30, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29385440/11%C3%AE-hsd-1-in-human-fetal-membranes-as-a-potential-therapeutic-target-for-preterm-birth
#3
Wangsheng Wang, Zi-Jiang Chen, Leslie Myatt, Kang Sun
Human parturition is a complex process involving interactions between the myometrium and signals derived from the placenta, fetal membranes and fetus. Signals originating from fetal membranes are crucial components that trigger parturition, which is clearly illustrated by the labor-initiating consequence of membrane rupture. It has been recognized for a long time that among fetal tissues in late gestation the fetal membranes possess the highest capacity for cortisol regeneration by 11β-hydroxysteroid dehydrogenase 1 (11β-HSD1)...
January 29, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29385433/sexual-dimorphism-and-the-origins-of-human-spinal-health
#4
Vicente Gilsanz, Tishya A L Wren, Skorn Ponrartana, Stefano Mora, Clifford J Rosen
Recent observations indicate that the cross-sectional area (CSA) of vertebral bodies are on average 10% smaller in healthy newborn girls than in newborn boys - a striking difference that increases during infancy and puberty, and is greatest by the time of sexual and skeletal maturity. The smaller vertebral CSA in females is associated with greater spinal flexibility, and could represent the human adaptation to fetal load in bipedal posture. Unfortunately, it also imparts a mechanical disadvantage that increases stress within the vertebrae for all physical activities...
January 29, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29381780/x-linked-hypophosphatemia-and-fgf23-related-hypophosphatemic-diseases-prospect-for-new-treatment
#5
Yuka Kinoshita, Seiji Fukumoto
Phosphate plays essential roles in many biological processes, and the serum phosphate level is tightly controlled. Chronic hypophosphatemia causes impaired mineralization of the bone matrix and results in rickets and osteomalacia. Fibroblast growth factor 23 (FGF23) is a bone-derived hormone that regulates phosphate metabolism. FGF23 excess induces hypophosphatemia via impaired phosphate reabsorption in the renal proximal tubules and decreased phosphate absorption in the intestines. There are several types of genetic and acquired form of FGF23-related hypophosphatemic diseases...
January 26, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29351662/the-versatile-tanycyte-a-hypothalamic-integrator-of-reproduction-and-energy-metabolism
#6
Vincent Prevot, Bénédicte Dehouck, Ariane Sharif, Philippe Ciofi, Paolo Giacobini, Jerome Clasadonte
The fertility and survival of an individual rely on the ability of the periphery to promptly, effectively and reproducibly communicate with brain neural networks that control reproduction, food intake and energy homeostasis. Tanycytes, a specialized glial cell type lining the wall of the third ventricle in the median eminence of the hypothalamus, appear to act as the linchpin of these processes by dynamically controlling the secretion of neuropeptides into the portal vasculature by hypothalamic neurons and regulating blood-brain and blood-cerebrospinal fluid exchanges, both processes that depend on the ability of these cells to adapt their morphology to the physiological state of the individual...
January 17, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29325023/the-extending-spectrum-of-npc1-related-human-disorders-from-niemann-pick-c1-disease-to-obesity
#7
Amel Lamri, Marie Pigeyre, William S Garver, David Meyre
The Niemann-Pick C1 (NPC1) protein regulates the transport of cholesterol and fatty acids from late endosomes / lysosomes and has a central role in maintaining lipid homeostasis. NPC1 loss-of-function mutations in humans cause NPC1 disease, a rare autosomal-recessive lipid-storage disorder characterized by progressive and lethal neurodegeneration, liver and lung failure, due to cholesterol infiltration. In humans, genome wide association studies (GWAS) and post-GWAS reports highlight the implication of common variants in NPC1 in adult-onset obesity, body fat mass, and type 2 diabetes...
January 9, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29309550/hormonal-contraception-and-hiv-1-acquisition-biological-mechanisms
#8
Janet P Hapgood, Charu Kaushic, Zdenek Hel
Access to effective affordable contraception for women is critical for individual and public health. A wide range of hormonal contraceptives (HCs) which differ in the composition, concentration of progestin component, frequency of dosage and method of administration, is currently available globally. However, the options are rather limited in settings with restricted economic resources that frequently overlap with areas of high HIV-1 prevalence. The predominant contraceptive used in Sub-Saharan Africa is the progestin-only three-monthly injectable depo-medroxyprogesterone acetate (DMPA)...
January 4, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29300866/diagnostic-utility-of-molecular-and-imaging-biomarkers-in-cytological-indeterminate-thyroid-nodules
#9
Elizabeth J de Koster, Lioe-Fee de Geus-Oei, Olaf M Dekkers, Ilse van Engen-van Grunsven, Jaap Hamming, Eleonora P M Corssmit, Hans Morreau, Abbey Schepers, Jan Smit, Wim J G Oyen, Dennis Vriens
Indeterminate thyroid cytology (Bethesda III and IV) corresponds to follicular-patterned benign and malignant lesions, which are particularly difficult to differentiate on cytology alone. As approximately 25% of these nodules harbor malignancy, diagnostic hemithyroidectomy is still custom. However, advanced preoperative diagnostics are rapidly evolving.This review provides an overview of additional molecular and imaging diagnostics for indeterminate thyroid nodules in a pre-operative clinical setting, including considerations regarding cost-effectiveness, availability, and feasibility of combining techniques...
January 2, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29309555/-evaluating-causality-of-gut-microbiota-in-obesity-and-diabetes-in-humans
#10
Abraham S Meijnikman, Victor E Gerdes, Max Nieuwdorp, Hilde Herrema
The pathophysiology of obesity and obesity-related diseases such as type 2 diabetes mellitus (T2DM) is complex and driven by many factors. One of the most recently identified factors in development of these metabolic pathologies is the gut microbiota. The introduction of affordable, high-throughput sequencing technologies has significantly expanded our understanding of the role of the gut microbiome in modulation of host metabolism and (cardio)metabolic disease development. Nevertheless, evidence for a role of the gut microbiome as causal, driving factor in disease development mainly originates from studies in mouse models: data showing causality in humans is scarce...
December 22, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28973103/genetic-causes-of-functional-adrenocortical-adenomas
#11
Maria-Christina Zennaro, Sheerazed Boulkroun, Fabio Fernandes-Rosa
Aldosterone and cortisol, the main mineralocorticoid and glucocorticoid hormones in humans, are produced in the adrenal cortex, which is composed of three concentric zones with specific functional characteristics. Adrenocortical adenomas (ACAs) can lead to the autonomous secretion of aldosterone responsible for primary aldosteronism, the most frequent form of secondary arterial hypertension. In the case of cortisol production, ACAs lead to overt or subclinical Cushing syndrome. Genetic analysis driven by next-generation sequencing technology has enabled the discovery, during the past 7 years, of the genetic causes of a large subset of ACAs...
December 1, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938479/pulmonary-function-and-sleep-breathing-two-new-targets-for-type-2-diabetes-care
#12
Albert Lecube, Rafael Simó, Maria Pallayova, Naresh M Punjabi, Carolina López-Cano, Cecilia Turino, Cristina Hernández, Ferran Barbé
Population-based studies showing the negative impact of type 2 diabetes (T2D) on lung function are overviewed. Among the well-recognized pathophysiological mechanisms, the metabolic pathways related to insulin resistance (IR), low-grade chronic inflammation, leptin resistance, microvascular damage, and autonomic neuropathy are emphasized. Histopathological changes are exposed, and findings reported from experimental models are clearly differentiated from those described in humans. The accelerated decline in pulmonary function that appears in patients with cystic fibrosis (CF) with related abnormalities of glucose tolerance and diabetes is considered as an example to further investigate the relationship between T2D and the lung...
December 1, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938469/taming-the-flames-targeting-white-adipose-tissue-browning-in-hypermetabolic-conditions
#13
Abdikarim Abdullahi, Marc G Jeschke
In this era of increased obesity and diabetes prevalence, the browning of white adipose tissue (WAT) has emerged as a promising therapeutic target to induce weight loss and improve insulin sensitivity in this population. The browning process entails a shift in the WAT from primarily storing excess energy to the dissipation of energy as heat. However, this idealistic view of WAT browning being the savior of the metabolic syndrome has been criticized by studies in burn and cancer patients that have shown browning to be detrimental rather than beneficial...
December 1, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938417/new-perspectives-on-pheochromocytoma-and-paraganglioma-toward-a-molecular-classification
#14
Joakim Crona, David Taïeb, Karel Pacak
A molecular biology-based taxonomy has been proposed for pheochromocytoma and paraganglioma (PPGL). Data from the Cancer Genome Atlas revealed clinically relevant prognostic and predictive biomarkers and stratified PPGLs into three main clusters. Each subgroup has a distinct molecular-biochemical-imaging signature. Concurrently, new methods for biochemical analysis, functional imaging, and medical therapies have also become available. The research community now strives to match the cluster biomarkers with the best intervention...
December 1, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/29053790/the-hippo-signaling-pathway-in-pancreatic-%C3%AE-cells-functions-and-regulations
#15
Amin Ardestani, Kathrin Maedler
Hippo signaling is an evolutionarily conserved pathway that critically regulates development and homeostasis of various tissues in response to a wide range of extracellular and intracellular signals. As an emerging significant player in many diseases, the Hippo pathway is also involved in the pathophysiology of diabetes on the level of the pancreatic islets. Multiple lines of evidence uncover the importance of Hippo signaling in pancreas development as well as in the regulation of β-cell survival, proliferation and regeneration...
October 18, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/29028960/ovarian-follicular-theca-cell-recruitment-differentiation-and-impact-on-fertility-2017-update
#16
JoAnne S Richards, Yi A Ren, Nicholes Candelaria, Jaye E Adams, Aleksandar Rajkovic
The major goal of this review is to summarize recent exciting findings that have been published within the past 10 years that, to our knowledge, have not been presented in detail in previous reviews and that may impact altered follicular development in polycystic ovarian syndrome (PCOS) and premature ovarian failure (POF) in women. Specifically, we will cover 1) mouse models that have led to discovery of the derivation of two precursor populations of theca cells in the embryonic gonad, 2) the key roles of the oocyte-derived factor GDF9 on the hedgehog (HH) signaling pathway and theca cell functions and 3) the impact of the HH pathway on both the specification of theca endocrine cells and theca fibroblast and smooth muscle cells in developing follicles...
October 5, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28973479/insulin-receptor-isoforms-in-physiology-and-disease-an-updated-view
#17
Antonino Belfiore, Roberta Malaguarnera, Veronica Vella, Michael C Lawrence, Laura Sciacca, Francesco Frasca, Andrea Morrione, Riccardo Vigneri
The insulin receptor (IR) gene undergoes differential splicing that generates two IR isoforms, IR-A and IR-B. The physiological roles of IR isoforms are incompletely understood and appear to be determined by their different binding affinities for insulin-like growth factors (IGFs), particularly for IGF-2. Predominant roles of IR-A in prenatal growth and development and of IR-B in metabolic regulation are well established. However, emerging evidence indicates that the differential expression of IR isoforms may also help explain the diversification of insulin and IGF signaling and actions in various organs and tissues by involving not only different ligand-binding affinities but also different membrane partitioning and trafficking and possibly different abilities to interact with a variety of molecular partners...
October 1, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938425/linking-stress-and-infertility-a-novel-role-for-ghrelin
#18
Luba Sominsky, Deborah M Hodgson, Eileen A McLaughlin, Roger Smith, Hannah M Wall, Sarah J Spencer
Infertility affects a remarkable one in four couples in developing countries. Psychological stress is a ubiquitous facet of life, and although stress affects us all at some point, prolonged or unmanageable stress may become harmful for some individuals, negatively impacting on their health, including fertility. For instance, women who struggle to conceive are twice as likely to suffer from emotional distress than fertile women. Assisted reproductive technology treatments place an additional physical, emotional, and financial burden of stress, particularly on women, who are often exposed to invasive techniques associated with treatment...
October 1, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938407/fibroblast-growth-factor-21-metabolic-role-in-mice-and-men
#19
Harald Staiger, Michaela Keuper, Lucia Berti, Martin Hrabe de Angelis, Hans-Ulrich Häring
Since its identification in 2000, the interest of scientists in the hepatokine fibroblast growth factor (FGF) 21 has tremendously grown, and still remains high, due to a wealth of very robust data documenting this factor's favorable effects on glucose and lipid metabolism in mice. For more than ten years now, intense in vivo and ex vivo experimentation addressed the physiological functions of FGF21 in humans as well as its pathophysiological role and pharmacological effects in human metabolic disease. This work produced a comprehensive collection of data revealing overlaps in FGF21 expression and function but also significant differences between mice and humans that have to be considered before translation from bench to bedside can be successful...
October 1, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28898980/free-testosterone-pumping-up-the-tires-or-ending-the-free-ride
#20
David J Handelsman
No abstract text is available yet for this article.
August 1, 2017: Endocrine Reviews
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