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Reviews in Endocrine & Metabolic Disorders

Silvia Martina Ferrari, Poupak Fallahi, Fabio Galetta, Emanuele Citi, Salvatore Benvenga, Alessandro Antonelli
Immune checkpoint inhibitors are drugs that inhibit the "checkpoint molecules". Different types of cancer immune checkpoint inhibitors have been approved recently: CTLA-4 monoclonal antibodies (as ipilimumab); anti-PD-1 monoclonal antibodies (as pembrolizumab and nivolumab); and anti-PD-L1 monoclonal antibodies (as atezolizumab, avelumab, and durmalumab). The increased immune response induced by these agents leads to immune-related adverse events (irAEs), that can vary from mild to fatal, according to the organ system and severity...
September 21, 2018: Reviews in Endocrine & Metabolic Disorders
Joseph Gerth, Tracy Becerra-Culqui, Andrew Bradlyn, Darios Getahun, Enid M Hunkeler, Timothy L Lash, Andrea Millman, Rebecca Nash, Virginia P Quinn, Brandi Robinson, Douglas Roblin, Michael J Silverberg, Vin Tangpricha, Suma Vupputuri, Michael Goodman
A key priority of transgender health research is the evaluation of long-term effects of gender affirmation treatment. Thus, accurate assessment of treatment receipt is critical. The data for this analysis came from an electronic medical records (EMR) based cohort of transgender individuals. A subset of cohort members were also asked to complete a self-administered survey. Information from the EMR was compared with survey responses to assess the extent of agreement regarding transmasculine (TM)/transfeminine (TF) status, hormone therapy receipt, and type of surgery performed...
September 15, 2018: Reviews in Endocrine & Metabolic Disorders
Natnita Mattawanon, Jessica B Spencer, David A Schirmer, Vin Tangpricha
Gender affirming procedures adversely affect the reproductive potential of transgender people. Thus, fertility preservation options should be discussed with all transpeople before medical and surgical transition. In transwomen, semen cryopreservation is typically straightforward and widely available at fertility centers. The optimal number of vials frozen depends on their reproductive goals and treatment options, therefore a consultation with a fertility specialist is optimal. Experimental techniques including spermatogonium stem cells (SSC) and testicular tissue preservation are technologies currently under development in prepubertal individuals but are not yet clinically available...
September 15, 2018: Reviews in Endocrine & Metabolic Disorders
M Langeveld, C E M Hollak
Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and hypophosphatasia. Conditions involving bone marrow or affecting skeletal growth and development are mainly the lysosomal storage disorders, in particular the mucopolysaccharidoses. In these disorders skeletal abnormalities are often the presenting symptom and early recognition and intervention improves outcome in many of these diseases...
September 12, 2018: Reviews in Endocrine & Metabolic Disorders
Gisela Wilcox
Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood...
September 10, 2018: Reviews in Endocrine & Metabolic Disorders
Jessica Abramowitz
There has been an increasing prevalence of individuals presenting for treatment of gender dysphoria over the past several years. This growing population includes transgender children referred to pediatric clinics. Transgender children meeting diagnostic criteria for gender dysphoria, with supportive mental health care, may be treated with gonadotropin releasing hormone (GnRH) agonists and cross sex hormones. The treatment for these children requires ongoing maintenance and monitoring and therefore follow-up in the adult care setting...
August 20, 2018: Reviews in Endocrine & Metabolic Disorders
Anna Nobili, Cris Glazebrook, Jon Arcelus
The study aims to systematically extract and analyse data about Quality of Life (QoL) in the transgender population. A systematic literature search and meta-analysis were conducted using the MEDLINE, EMBASE, PubMed, and PsycINFO databases, up to July 2017. Only English language quantitative studies, in adults, which reported the means for validated QoL measures were included. Random-effect meta-analysis was adopted to pool data and estimate the 95% Confidence Intervals (CI). From 94 potentially relevant articles, 29 studies were included within the review and data extraction for meta-analysis was available in 14 studies...
August 18, 2018: Reviews in Endocrine & Metabolic Disorders
Leonidas Panagiotakopoulos
Puberty suppression is the reversible first step of endocrine medical treatment in transgender youth, and allows for two very important aspects of transgender management. Firstly, it buys the patient, family and their medical team time to fully evaluate the presence and persistence of gender dysphoria. Secondly, it successfully prevents the development of cis-gender unwanted secondary sexual characteristics. The latter, when present, almost certainly increase the burden of psychological co-morbidity for any transgender person...
August 15, 2018: Reviews in Endocrine & Metabolic Disorders
Sandra Sirrs, Larry Lynd
No abstract text is available yet for this article.
August 13, 2018: Reviews in Endocrine & Metabolic Disorders
Michael S Irwig
This review examines the relationship between exogenous sex steroids and cardiovascular events and surrogate markers in trans (transgender) people. Data from trans populations is compared to data from postmenopausal women and hypogonadal men when appropriate. In an age-adjusted comparison with cisgender people, trans people appear to have an increased risk for myocardial infarction and death due to cardiovascular disease. It is uncertain whether hormone therapy in trans people affects their risk of stroke. In studies that followed trans people on hormone therapy, the rates of myocardial infarction and stroke were consistently higher in trans women than trans men...
August 3, 2018: Reviews in Endocrine & Metabolic Disorders
Andre Mattman, Murray Potter
Endocrinologists may encounter abnormal results in routine laboratory tests while caring for patients with inborn errors of metabolism. This article provides a framework for understanding these abnormalities as: a) part of the pathophysiology of the exceptional disease, b) exceptional laboratory errors related to the exceptional disease, or c) routine laboratory errors to which any patient sample is susceptible.
July 21, 2018: Reviews in Endocrine & Metabolic Disorders
Fady Hannah-Shmouni, Constantine A Stratakis
Primary adrenal insufficiency (PAI) results from an inability to produce adequate amounts of steroid hormones from the adrenal cortex. The most common causes of PAI are autoimmune adrenalitis (Addison's disease), infectious diseases, adrenalectomy, neoplasia, medications, and various rare genetic syndromes and inborn errors of metabolism that typically present in childhood although late-onset presentations are becoming increasingly recognized. The prevalence of PAI in Western countries is approximately 140 cases per million, with an incidence of 4 per 1,000,000 per year...
June 28, 2018: Reviews in Endocrine & Metabolic Disorders
Suzan J G Knottnerus, Jeannette C Bleeker, Rob C I Wüst, Sacha Ferdinandusse, Lodewijk IJlst, Frits A Wijburg, Ronald J A Wanders, Gepke Visser, Riekelt H Houtkooper
Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most abundant fatty acids in the human diet and in body stores, and more than 15 enzymes are involved in long-chain fatty acid oxidation. Pathogenic mutations in genes encoding these enzymes result in a long-chain fatty acid oxidation disorder in which the energy homeostasis is compromised and long-chain acylcarnitines accumulate. Symptoms arise or exacerbate during catabolic situations, such as fasting, illness and (endurance) exercise...
June 20, 2018: Reviews in Endocrine & Metabolic Disorders
Kyoung-Jin Chung, Marina Nati, Triantafyllos Chavakis, Antonios Chatzigeorgiou
Immune cells are present in the adipose tissue (AT) and regulate its function. Under lean conditions, immune cells predominantly of type 2 immunity, including eosinophils, M2-like anti-inflammatory macrophages and innate lymphoid cells 2, contribute to the maintenance of metabolic homeostasis within the AT. In the course of obesity, pro-inflammatory immune cells, such as M1-like macrophages, prevail in the AT. Inflammation in the obese AT is associated with the development of metabolic complications such as insulin resistance, type 2 diabetes and cardiovascular disease...
June 19, 2018: Reviews in Endocrine & Metabolic Disorders
Louis J Gooren, Guy T'Sjoen
High quality empirical data assessing morbidity and mortality and cancer incidence among transgender people are almost non-existent. Sex hormone treatment of conditions in older non-transgender people might as yet be taken as the best available analogy to hormone administration to aging transgender persons. Testosterone administration to transgender men carries little risk with regard to cardiovascular disease and cancer. A dose adaptation may be needed in men with a high hematocrit or cardiac insufficiency...
June 19, 2018: Reviews in Endocrine & Metabolic Disorders
Sira Korpaisarn, Joshua D Safer
A lack of access to knowledgeable providers is the greatest reported barrier to care for transgender individuals. The purpose of this manuscript is to review the recent literature characterizing transgender medicine education for medical providers and to summarize effective interventions for improving education in transgender care. The PubMed database was searched for all literature that assessed transgender medical education among physicians or trainees and all papers that reported results of transgender-specific educational interventions...
June 19, 2018: Reviews in Endocrine & Metabolic Disorders
Enke Baldini, Teresa Odorisio, Chiara Tuccilli, Severino Persechino, Salvatore Sorrenti, Antonio Catania, Daniele Pironi, Giovanni Carbotta, Laura Giacomelli, Stefano Arcieri, Massimo Vergine, Massimo Monti, Salvatore Ulisse
The skin is the largest organ of the body, at the boundary with the outside environment. Primarily, it provides a physical and chemical barrier against external insults, but it can act also as immune organ because it contains a whole host of immune-competent cells of both the innate and the adaptive immune systems, which cooperate in eliminating invading pathogens following tissue injury. On the other hand, improper skin immune responses lead to autoimmune skin diseases (AISD), such as pemphigus, bullous pemphigoid, vitiligo, and alopecia...
June 15, 2018: Reviews in Endocrine & Metabolic Disorders
Roseanne O Yeung, Fady Hannah-Shmouni, Karen Niederhoffer, Mark A Walker
Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare genetic forms of diabetes that have differing diagnostic and/or treatment implications from type 1 and type 2 diabetes. Advances in understanding the genotype-phenotype associations in these rare forms of diabetes offer clinically available examples of evolving precision medicine where defining the correct genetic etiology can radically alter treatment approaches...
May 18, 2018: Reviews in Endocrine & Metabolic Disorders
Riccardo Ariotti, Stefano Partelli, Francesca Muffatti, Valentina Andreasi, Francesca Della Sala, Massimo Falconi
Neuroendocrine gastro-entero-pancreatic neoplasms (GEP-NENs) constitute a heterogeneous group of tumors, whose incidence has increased over the years. The most frequent site for primary disease is the stomach followed by small and large intestine, and pancreas. In the last decade, a dramatic growing in the incidence of small, incidental GEP-NENs has been recorded. In parallel, an increasing attitude toward more conservative approaches instead of surgical management has being widely spreading. This is particularly true for small, asymptomatic, pancreatic NEN as for these tumor forms an active surveillance has proven to be safe and feasible...
March 12, 2018: Reviews in Endocrine & Metabolic Disorders
Michel Tchan
The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of metabolism are collectively not infrequent and important to consider as they may be treatable and tragic outcomes avoided. Hyperammonemia or lactic acidosis are most often secondary markers of an acquired primary disease process, but they may be a clue to the presence of a genetic disorder...
March 1, 2018: Reviews in Endocrine & Metabolic Disorders
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