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Addison Disease HELP
Based on 662 articles published since 2008
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These are the 662 published articles about Addison Disease that originated from Worldwide during 2008-2018.
 
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · 11 · 12 · 13 · 14 · 15 · 16 · 17 · 18 · 19 · 20
1 Guideline Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency. 2014

Husebye, E S / Allolio, B / Arlt, W / Badenhoop, K / Bensing, S / Betterle, C / Falorni, A / Gan, E H / Hulting, A-L / Kasperlik-Zaluska, A / Kämpe, O / Løvås, K / Meyer, G / Pearce, S H. ·Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway. ·J Intern Med · Pubmed #24330030.

ABSTRACT: Primary adrenal insufficiency (PAI), or Addison's disease, is a rare, potentially deadly, but treatable disease. Most cases of PAI are caused by autoimmune destruction of the adrenal cortex. Consequently, patients with PAI are at higher risk of developing other autoimmune diseases. The diagnosis of PAI is often delayed by many months, and most patients present with symptoms of acute adrenal insufficiency. Because PAI is rare, even medical specialists in this therapeutic area rarely manage more than a few patients. Currently, the procedures for diagnosis, treatment and follow-up of this rare disease vary greatly within Europe. The common autoimmune form of PAI is characterized by the presence of 21-hydroxylase autoantibodies; other causes should be sought if no autoantibodies are detected. Acute adrenal crisis is a life-threatening condition that requires immediate treatment. Standard replacement therapy consists of multiple daily doses of hydrocortisone or cortisone acetate combined with fludrocortisone. Annual follow-up by an endocrinologist is recommended with the focus on optimization of replacement therapy and detection of new autoimmune diseases. Patient education to enable self-adjustment of dosages of replacement therapy and crisis prevention is particularly important in this disease. The authors of this document have collaborated within an EU project (Euadrenal) to study the pathogenesis, describe the natural course and improve the treatment for Addison's disease. Based on a synthesis of this research, the available literature, and the views and experiences of the consortium's investigators and key experts, we now attempt to provide a European Expert Consensus Statement for diagnosis, treatment and follow-up.

2 Editorial How best to treat Addison's disease in dogs? 2016

Carr, Anthony P. ·Department of Small Animal Clinical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, Saskatoon S7N 5B4, Canada, e-mail: tony.carr@usask.ca. ·Vet Rec · Pubmed #27450847.

ABSTRACT: -- No abstract --

3 Editorial Adrenal insufficiency with special reference to tuberculosis. 2014

Parameswaran, V. · ·Indian J Tuberc · Pubmed #25509930.

ABSTRACT: -- No abstract --

4 Editorial Clinicians sometimes miss cases of latent primary adrenal insufficiency involving stress-related health changes. 2014

Nishikawa, Tetsuo / Omura, Masao / Saito, Jun / Matsuzawa, Yoko. ·Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Japan. ·Intern Med · Pubmed #24492682.

ABSTRACT: -- No abstract --

5 Editorial How to avoid precipitating an acute adrenal crisis. 2012

Wass, John A H / Arlt, Wiebke. · ·BMJ · Pubmed #23048013.

ABSTRACT: -- No abstract --

6 Editorial Compounding risk for hypoglycemia: type 1 diabetes and Addison's disease. 2012

Barker, Jennifer M. · ·Diabetes Technol Ther · Pubmed #22506859.

ABSTRACT: -- No abstract --

7 Editorial [Full-blown diseases]. 2009

Scriba, P C. · ·Dtsch Med Wochenschr · Pubmed #19746327.

ABSTRACT: -- No abstract --

8 Review Acute adrenal crisis and mortality in adrenal insufficiency: Still a concern in 2018! 2018

Hahner, Stefanie. ·Department of medicine I, endocrinology and diabetology, Würzburg University Hospital, Oberdürrbacher street, 6, 97080 Würzburg, Germany. Electronic address: hahner_s@ukw.de. ·Ann Endocrinol (Paris) · Pubmed #29716733.

ABSTRACT: Despite established replacement therapy, mortality in patients suffering from chronic adrenal insufficiency is increasing. This may be partly explained by the fact that lack of adrenal stress hormones impairs the body's capacity to deal adequately with stress situations, resulting in life-threatening adrenal crises. Since many such situations are of rapid onset, concepts that allow for quick response to emergencies are particularly important. Optimal education for patients and relatives, improved awareness on the part of health professionals and the development of new easy-to-use drugs for acute therapy are of prime importance.

9 Review News about the genetics of congenital primary adrenal insufficiency. 2018

Roucher-Boulez, Florence / Mallet-Motak, Delphine / Tardy-Guidollet, Véronique / Menassa, Rita / Goursaud, Claire / Plotton, Ingrid / Morel, Yves. ·Laboratoire de biochimie et biologie moléculaire Grand Est, UM pathologies endocriniennes rénales musculaires et mucoviscidose, groupement hospitalier Est, hospices civils de Lyon, 69677 Bron, France; Université de Lyon, université Claude-Bernard Lyon 1, 69008 Lyon, France. Electronic address: florence.roucher@chu-lyon.fr. · Laboratoire de biochimie et biologie moléculaire Grand Est, UM pathologies endocriniennes rénales musculaires et mucoviscidose, groupement hospitalier Est, hospices civils de Lyon, 69677 Bron, France. · Laboratoire de biochimie et biologie moléculaire Grand Est, UM pathologies endocriniennes rénales musculaires et mucoviscidose, groupement hospitalier Est, hospices civils de Lyon, 69677 Bron, France; Université de Lyon, université Claude-Bernard Lyon 1, 69008 Lyon, France. ·Ann Endocrinol (Paris) · Pubmed #29661472.

ABSTRACT: Primary adrenal insufficiency (PAI) is characterized by impaired production of steroid hormones due to an adrenal cortex defect. This condition incurs a risk of acute insufficiency which may be life-threatening. Today, 80% of pediatric forms of PAI have a genetic origin but 5% have no clear genetic support. Recently discovered mutations in genes relating to oxidative stress have opened the way to research on genes unrelated to the adrenal gland. Identification of causal mutations in a gene responsible for PAI allows genetic counseling, guidance of follow-up and prevention of complications. This is particularly true for stress oxidative anomalies, as extra-adrenal manifestations may occur due to the sensitivity to oxidative stress of other organs such as the heart, thyroid, liver, kidney and pancreas.

10 Review Autoimmune Addison's disease - An update on pathogenesis. 2018

Hellesen, Alexander / Bratland, Eirik / Husebye, Eystein S. ·Department of Clinical Science, University of Bergen, 5021 Bergen, Norway; K.G. Jebsen Senter for Autoimmune Sykdommer, University of Bergen, 5021 Bergen, Norway. · Department of Clinical Science, University of Bergen, 5021 Bergen, Norway; K.G. Jebsen Senter for Autoimmune Sykdommer, University of Bergen, 5021 Bergen, Norway; Department of Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Medicine (Solna), Karolinska Institutet, 17176 Stockholm, Sweden. Electronic address: Eystein.Husebye@uib.no. ·Ann Endocrinol (Paris) · Pubmed #29631795.

ABSTRACT: Autoimmunity against the adrenal cortex is the leading cause of Addison's disease in industrialized countries, with prevalence estimates ranging from 93-220 per million in Europe. The immune-mediated attack on adrenocortical cells cripples their ability to synthesize vital steroid hormones and necessitates life-long hormone replacement therapy. The autoimmune disease etiology is multifactorial involving variants in immune genes and environmental factors. Recently, we have come to appreciate that the adrenocortical cell itself is an active player in the autoimmune process. Here we summarize the complex interplay between the immune system and the adrenal cortex and highlight unanswered questions and gaps in our current understanding of the disease.

11 Review Therapeutic patient education in adrenal insufficiency. 2018

Guignat, Laurence. ·Service des maladies endocriniennes et métaboliques, hôpital Cochin, CHU Paris-centre, centre de référence des maladies rares de la surrénale, 75014 Paris, France. Electronic address: laurence.guignat@aphp.fr. ·Ann Endocrinol (Paris) · Pubmed #29606279.

ABSTRACT: It is essential to encourage patient autonomy in the management of their illness, and notably their participation in treatment education programs; specific programs target avoidance or early preventive treatment of acute adrenal insufficiency, which is a life-threatening complication. Therapeutic patient education is recommended by the two international consensus statements on the management of primary adrenal insufficiency and the French consensus on adrenal insufficiency. Although there is no common international reference framework to date, the objective of the French consensus was to provide a frame of reference to facilitate the development of therapeutic education for patients with adrenal insufficiency. The principal educational objectives were: for the patient to always carry the necessary emergency equipment; be able to identify situations of increased risk and the early signs of adrenal crisis; know how to adjust oral glucocorticoid treatment; be capable of administering hydrocortisone by subcutaneous injection; be able to adjust treatment to different situations (heat, physical exercise, travel); and be able to appropriately use the resources of the healthcare services. Other programs could also be developed to respond to patients' needs and expectations, notably concerning hydrocortisone dose adjustment to avoid overdose in the context of chronic fatigue syndrome.

12 Review Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. 2017

Güran, Tülay. ·Marmara University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey. ·J Clin Res Pediatr Endocrinol · Pubmed #29280740.

ABSTRACT: Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenever the diagnosis and treatment is delayed. Therefore, early and accurate diagnosis would allow appropriate management for the patients and genetic counselling for the family. Congenital adrenal hyperplasia accounts for most cases of PAI in childhood, followed by abnormalities in the development of the adrenal gland, resistance to adrenocorticotropin hormone action and adrenal destruction. In recent years, the use of genome-wide, next-generation sequencing approaches opened new avenues for identifying novel genetic causes in the PAI spectrum. Understanding the genetic basis of adrenal disorders is key to develop innovative therapies for patients with PAI. The promising progress made in congenital adrenal hyperplasia treatment brings new perspectives for personalized treatment in children with PAI. The aim of this review is to characterize recent advances in the genetics and management of PAI in children.

13 Review Group 1. Epidemiology of primary and secondary adrenal insufficiency: Prevalence and incidence, acute adrenal insufficiency, long-term morbidity and mortality. 2017

Chabre, Olivier / Goichot, Bernard / Zenaty, Delphine / Bertherat, Jérôme. ·Service d'endocrinologie diabétologie nutrition, CHU Grenoble-Alpes, CS 10217, boulevard de la Chantourne, 38043 Grenoble cedex 9, France. Electronic address: OlivierChabre@chu-grenoble.fr. · Service de médecine interne, endocrinologie et nutrition, hôpitaux universitaires de Strasbourg, 67098 Strasbourg cedex, France. · Service d'endocrinologie diabétologie nutrition, CHU Grenoble-Alpes, CS 10217, boulevard de la Chantourne, 38043 Grenoble cedex 9, France. · Service des maladies endocriniennes et métaboliques, hôpital Cochin, CHU Paris Centre, 75014 Paris, France. ·Ann Endocrinol (Paris) · Pubmed #29174931.

ABSTRACT: The prevalence of primary adrenal insufficiency is estimated at between 82-144/million, with auto-immunity being the most common cause in adults and genetic causes, especially enzyme defects, being the most common cause in children. The prevalence of secondary adrenal deficiency is estimated to be between 150-280/million. The most frequent occurrence is believed to be corticosteroid-induced insufficiency, despite the incidence of clinically relevant deficiency after cessation of glucocorticoid treatment being widely debated. Data on mortality in adrenal insufficiency are contradictory, with studies from Sweden suggesting a two-fold increase in comparison to the general population, but this is not consistently reported in all studies. However, increased mortality has been consistently reported in young patients, associated with infection and/or acute adrenal insufficiency. Acute adrenal deficiency (adrenal crisis) occurs in primary as well as secondary adrenal insufficiency. Its incidence, mostly determined in retrospective studies, is estimated in Europe at 6-8/100 patients/year. A prospective study reported 0.5 deaths/100 patient-years from adrenal crisis. Long-term morbidity of adrenal insufficiency is not well-established, the increased cardiovascular risk or bone demineralization which are not consistently reported may also be due to a supraphysiological glucocorticoid replacement therapy. However, alteration in quality of life, both in physical and mental health components, has been demonstrated by several studies in both primary and secondary adrenal insufficiency.

14 Review None 2017

Yalcin, Tülay / Schneemann, Markus / Schmid, Beat. ·1 Klinik für Innere Medizin, Kantonsspital Schaffhausen. · 2 Endokrinologie, Klinik für Innere Medizin, Kantonsspital Schaffhausen. ·Praxis (Bern 1994) · Pubmed #28795626.

ABSTRACT: -- No abstract --

15 Review MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 2017

Flück, Christa E. ·Departments of Pediatrics and Clinical ResearchBern University Children's Hospital Inselspital, University of Bern, Bern, Switzerland christa.flueck@dkf.unibe.ch. ·Eur J Endocrinol · Pubmed #28450305.

ABSTRACT: Primary adrenal insufficiency (PAI) is potentially life threatening, but rare. In children, genetic defects prevail whereas adults suffer more often from acquired forms of PAI. The spectrum of genetic defects has increased in recent years with the use of next-generation sequencing methods and now has reached far beyond genetic defects in all known enzymes of adrenal steroidogenesis. Cofactor disorders such as P450 oxidoreductase (

16 Review Adjuvant psychological therapy in long-term endocrine conditions. 2017

Daniels, J / Turner-Cobb, J M. ·Department of Psychology, The University of Bath, Bath, UK. · Department of Psychology, Research Centre for Behaviour Change, Bournemouth University, Bournemouth, UK. ·Clin Endocrinol (Oxf) · Pubmed #28370206.

ABSTRACT: Consideration of psychological distress in long-term endocrine conditions is of vital importance given the prevalence of anxiety and depression in such disorders. Poor mental health can lead to compromised self-care, higher utilization of health services, lower rates of adherence, reduced quality of life and ultimately poorer outcomes. Adjuvant psychological therapy offers an effective resource to reduce distress in endocrine conditions. While the vast majority of work in this area has focused on psychological screening and intervention in diabetes, identification and recognition of psychological distress are equally important in other endocrinological conditions, with supportive evidence in polycystic ovary syndrome and Addison's disease. Referral pathways and recommendations set out by UK guidelines and the Department of Health mandate requires greater attention across a wider range of long-term endocrine conditions to facilitate improved quality of life and health outcome.

17 Review Radiology of the adrenal incidentalomas. Review of the literature. 2017

Farrugia, F A / Martikos, G / Surgeon, C / Tzanetis, P / Misiakos, E / Zavras, N / Charalampopoulos, A. · ·Endocr Regul · Pubmed #28222025.

ABSTRACT: The term "adrenal incidentaloma" is a radiological term. Adrenal incidentalomas are adrenal tumors discovered in an imaging study that has been obtained for indications exclusive to adrenal conditions (Udelsman 2001; Linos 2003; Bulow et al. 2006; Anagnostis et al. 2009). This definition excludes patients undergoing imaging testing as part of staging and work-up for cancer (Grumbach et al. 2003; Anagnostis et al. 2009). Papierska et al. (2013) have added the prerequisite that the size of a tumor must be "greater than 1cm in diameter", in order to be called incidentaloma. Although in the most cases these masses are non-hypersecreting and benign, they still represent an important clinical concern because of the risk of malignancy or hormone hyperfunction (Barzon et al. 2003). Th e adrenal tumors belong to the commonest incidental findings having been discovered (Kanagarajah et al. 2012).

18 Review Does vitamin D play a role in autoimmune endocrine disorders? A proof of concept. 2017

Altieri, Barbara / Muscogiuri, Giovanna / Barrea, Luigi / Mathieu, Chantal / Vallone, Carla V / Mascitelli, Luca / Bizzaro, Giorgia / Altieri, Vincenzo M / Tirabassi, Giacomo / Balercia, Giancarlo / Savastano, Silvia / Bizzaro, Nicola / Ronchi, Cristina L / Colao, Annamaria / Pontecorvi, Alfredo / Della Casa, Silvia. ·Division of Endocrinology and Metabolic Diseases, Institute of Medical Pathology, Catholic University of the Sacred Heart, Rome, Italy. altieri.barbara@gmail.com. · Ios and Coleman Medicina Futura Medical Center, University Federico II, Naples, Italy. · Clinical and Experimental Endocrinology, KU Leuven, Leuven, Belgium. · Emergency Department, Fondazione Poliambulanza Istituto Ospedaliero, Brescia, Italy. · Comando Brigata Alpina Julia/Multinational Land Force, Medical Service, Udine, Italy. · TSEM med Swiss SA, Lugano, Switzerland. · Department of Urology, Bolognini Hospital, Seriate, Italy. · Division of Endocrinology, Department of Clinical and Molecular Sciences, Umberto I Hospital, Polytechnic University of Marche, Ancona, Italy. · Department of Clinical Medicine and Surgery, University "Federico II", Naples, Italy. · Laboratory of Clinical Pathology, San Antonio Hospital, Tolmezzo, Italy. · Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital of Wuerzburg, Wuerzburg, Germany. · Division of Endocrinology and Metabolic Diseases, Institute of Medical Pathology, Catholic University of the Sacred Heart, Rome, Italy. ·Rev Endocr Metab Disord · Pubmed #28070798.

ABSTRACT: In the last few years, more attention has been given to the "non-calcemic" effect of vitamin D. Several observational studies and meta-analyses demonstrated an association between circulating levels of vitamin D and outcome of many common diseases, including endocrine diseases, chronic diseases, cancer progression, and autoimmune diseases. In particular, cells of the immune system (B cells, T cells, and antigen presenting cells), due to the expression of 1α-hydroxylase (CYP27B1), are able to synthesize the active metabolite of vitamin D, which shows immunomodulatory properties. Moreover, the expression of the vitamin D receptor (VDR) in these cells suggests a local action of vitamin D in the immune response. These findings are supported by the correlation between the polymorphisms of the VDR or the CYP27B1 gene and the pathogenesis of several autoimmune diseases. Currently, the optimal plasma 25-hydroxyvitamin D concentration that is necessary to prevent or treat autoimmune diseases is still under debate. However, experimental studies in humans have suggested beneficial effects of vitamin D supplementation in reducing the severity of disease activity. In this review, we summarize the evidence regarding the role of vitamin D in the pathogenesis of autoimmune endocrine diseases, including type 1 diabetes mellitus, Addison's disease, Hashimoto's thyroiditis, Graves' disease and autoimmune polyendocrine syndromes. Furthermore, we discuss the supplementation with vitamin D to prevent or treat autoimmune diseases.

19 Review Measuring cortisol in serum, urine and saliva - are our assays good enough? 2017

El-Farhan, Nadia / Rees, D Aled / Evans, Carol. ·1 Biochemistry Department, Royal Gwent Hospital, Newport, UK. · 2 Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK. · 3 Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK. ·Ann Clin Biochem · Pubmed #28068807.

ABSTRACT: Cortisol is a steroid hormone produced in response to stress. It is essential for maintaining health and wellbeing and leads to significant morbidity when deficient or present in excess. It is lipophilic and is transported bound to cortisol-binding globulin (CBG) and albumin; a small fraction (∼10%) of total serum cortisol is unbound and biologically active. Serum cortisol assays measure total cortisol and their results can be misleading in patients with altered serum protein concentrations. Automated immunoassays are used to measure cortisol but lack specificity and show significant inter-assay differences. Liquid chromatography - tandem mass spectrometry (LC-MS/MS) offers improved specificity and sensitivity; however, cortisol cut-offs used in the short Synacthen and Dexamethasone suppression tests are yet to be validated for these assays. Urine free cortisol is used to screen for Cushing's syndrome. Unbound cortisol is excreted unchanged in the urine and 24-h urine free cortisol correlates well with mean serum-free cortisol in conditions of cortisol excess. Urine free cortisol is measured predominantly by immunoassay or LC-MS/MS. Salivary cortisol also reflects changes in unbound serum cortisol and offers a reliable alternative to measuring free cortisol in serum. LC-MS/MS is the method of choice for measuring salivary cortisol; however, its use is limited by the lack of a single, validated reference range and poorly standardized assays. This review examines the methods available for measuring cortisol in serum, urine and saliva, explores cortisol in disease and considers the difficulties of measuring cortisol in acutely unwell patients and in neonates.

20 Review MANAGEMENT OF ENDOCRINE DISEASE: Regenerative therapies in autoimmune Addison's disease. 2017

Gan, Earn H / Pearce, Simon H. ·Institute of Genetic MedicineInternational Centre for Life, Centre Parkway, Newcastle upon Tyne, UK earn.gan1@ncl.ac.uk. · Institute of Genetic MedicineInternational Centre for Life, Centre Parkway, Newcastle upon Tyne, UK. ·Eur J Endocrinol · Pubmed #27810905.

ABSTRACT: The treatment for autoimmune Addison's disease (AAD) has remained virtually unchanged in the last 60 years. Most patients have symptoms that are relatively well controlled with exogenous steroid replacement, but there may be persistent symptoms, recurrent adrenal crisis and poor quality of life, despite good compliance with optimal current treatments. Treatment with conventional exogenous steroid therapy is also associated with premature mortality, increased cardiovascular risk and complications related to excessive steroid replacement. Hence, novel therapeutic approaches have emerged in the last decade attempting to improve the long-term outcome and quality of life of patients with AAD. This review discusses the recent developments in treatment innovations for AAD, including the novel exogenous steroid formulations with the intention of mimicking the physiological biorhythm of cortisol secretion. Our group has also carried out a few studies attempting to restore endogenous glucocorticoid production via immunomodulatory and regenerative medicine approaches. The recent advances in the understanding of adrenocortical stem cell biology, and adrenal plasticity will also be discussed to help comprehend the science behind the therapeutic approaches adopted.

21 Review Conduct protocol in emergency: Acute adrenal insufficiency. 2016

Fares, Adil Bachir / Santos, Rômulo Augusto Dos. ·Medical Student, 6th year, Faculdade de Medicina de São José do Rio Preto (Famerp), São José do Rio Preto, SP, Brazil. · Degree in Endocrinology and Metabology from Sociedade Brasileira de Endocrinologia e Metabologia (SBEM). Assistant Physician at the Internal Medicine Service of Hospital de Base. Researcher at Centro Integrado de Pesquisa (CIP), Hospital de Base, São José do Rio Preto. Endocrinology Coordinator of the Specialties Outpatient Clinic (AME), São José do Rio Preto, SP, Brazil. ·Rev Assoc Med Bras (1992) · Pubmed #27992012.

ABSTRACT: Introduction:: Acute adrenal insufficiency or addisonian crisis is a rare comorbidity in emergency; however, if not properly diagnosed and treated, it may progress unfavorably. Objective:: To alert all health professionals about the diagnosis and correct treatment of this complication. Method:: We performed an extensive search of the medical literature using specific search tools, retrieving 20 articles on the topic. Results:: Addisonian crisis is a difficult diagnosis due to the unspecificity of its signs and symptoms. Nevertheless, it can be suspected in patients who enter the emergency room with complaints of abdominal pain, hypotension unresponsive to volume or vasopressor agents, clouding, and torpor. This situation may be associated with symptoms suggestive of chronic adrenal insufficiency such as hyperpigmentation, salt craving, and association with autoimmune diseases such as vitiligo and Hashimoto's thyroiditis. Hemodynamically stable patients may undergo more accurate diagnostic methods to confirm or rule out addisonian crisis. Delay to perform diagnostic tests should be avoided, in any circumstances, and unstable patients should be immediately medicated with intravenous glucocorticoid, even before confirmatory tests. Conclusion:: Acute adrenal insufficiency is a severe disease that is difficult to diagnose. It should be part of the differential diagnosis in cases of hypotensive patient who is unresponsive to vasoactive agents. Therefore, whenever this complication is considered, health professionals should aim specifically at this pathology.

22 Review Disorders of Sexual Development in Adult Women. 2016

Gomez-Lobo, Veronica / Amies Oelschlager, Anne-Marie / Anonymous3981027. ·MedStar Washington Hospital Center/Children's National Medical Center, Washington, DC; and the University of Washington School of Medicine, Seattle, Washington. ·Obstet Gynecol · Pubmed #27741188.

ABSTRACT: Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care. As women with these conditions transition to adult care, the gynecologist needs to assess the patient's understanding and educate her regarding her diagnosis and ongoing medical care. All of these conditions may affect self-perception, mental health, fertility, sexual function, and bone and cardiovascular health. Women with congenital adrenal hyperplasia need lifelong endocrine management and require genetic counseling before pregnancy. Women with androgen insensitivity syndrome require counseling regarding gonadectomy and hormone replacement therapy and may require vaginal elongation for intercourse. Most women with Turner syndrome experience premature ovarian insufficiency and require long-term estrogen replacement. Women with Turner syndrome often have congenital anomalies and autoimmune disorders, which require regular monitoring and care during adulthood. The purpose of this review is to provide the obstetrician-gynecologist who cares for adult women with the most common disorders (differences) of sexual development conditions an outline of the current recommendations for screening and ongoing health care with particular emphasis on the underlying genetics, management of subfertility, infertility and sexual concerns, approach to hypogonadism, and understanding of associated comorbidities.

23 Review From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. 2016

Betterle, Corrado / Garelli, Silvia / Presotto, Fabio / Furmaniak, Jadwiga. · ·Front Horm Res · Pubmed #27211204.

ABSTRACT: Recent progress in the immunopathology field has greatly improved our understanding of the natural history of autoimmune diseases, particularly of Addison's disease. Addison's disease is known to be a chronic illness characterized by adrenocortical gland insufficiency that develops following a long and mainly asymptomatic period, characterized by the presence of circulating autoantibodies directed to adrenal cortex antigens. In this chapter we describe the groups of subjects at risk of developing Addison's disease, together with the diagnostic tests considered the most appropriate for evaluating adrenal function: determination of basal plasma adrenocorticotropic hormone (ACTH) levels, plasma renin activity, plasma aldosterone and cortisol levels, and cortisol levels after intravenous stimulation with ACTH (ACTH test). The employment of specific clinical, immunological and functional criteria in the subjects with autoantibodies to the adrenal cortex allows identifying those at risk of developing overt disease. The independent risk factors for the progression to adrenal failure have also been identified and they contribute to different risks of developing clinical Addison's disease. Based on the risk level, the subjects should be monitored over time to observe early signs of adrenal dysfunction, and start substitutive treatment as soon as possible. For patients presenting with high risk, prevention strategies and trials might be available.

24 Review From Genetic Predisposition to Molecular Mechanisms of Autoimmune Primary Adrenal Insufficiency. 2016

Falorni, Alberto / Brozzetti, Annalisa / Perniola, Roberto. · ·Front Horm Res · Pubmed #27211051.

ABSTRACT: Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental factors. Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome type 1, of which AAD is a major disease component. Among the genetic factors for isolated AAD and autoimmune polyendocrine syndrome type 2, a key role is played by HLA class II genes: HLA-DRB1*0301-DQA1*0501-DQB1*0201 and DRB1*04-DQA1*0301-DQB1*0302 are positively, and DRB1*0403 is negatively, associated with genetic risk for AAD. The MHC class I chain-related gene A (MICA) allele 5.1 is strongly and positively associated with AAD. Other gene polymorphisms contribute to the genetic risk for AAD, including CIITA (MHC class II transactivator), the master regulator of MHC class II expression, cytotoxic T-lymphocyte antigen-4 (CTLA-4), PTPN22, STAT4, PD-L1, NALP1, FCRL3, GPR174, GATA3, NFATC1, CYP27B1 and the vitamin D receptor.

25 Review [Addison's disease : Primary adrenal insufficiency]. 2016

Pulzer, A / Burger-Stritt, S / Hahner, S. ·Medizinische Klinik und Poliklinik I, Schwerpunkt Endokrinologie und Diabetologie, Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland. · Medizinische Klinik und Poliklinik I, Schwerpunkt Endokrinologie und Diabetologie, Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland. hahner_s@ukw.de. ·Internist (Berl) · Pubmed #27129928.

ABSTRACT: Adrenal insufficiency, a rare disorder which is characterized by the inadequate production or absence of adrenal hormones, may be classified as primary adrenal insufficiency in case of direct affection of the adrenal glands or secondary adrenal insufficiency, which is mostly due to pituitary or hypothalamic disease. Primary adrenal insufficiency affects 11 of 100,000 individuals. Clinical symptoms are mainly nonspecific and include fatigue, weight loss, and hypotension. The diagnostic test of choice is dynamic testing with synthetic ACTH. Patients suffering from chronic adrenal insufficiency require lifelong hormone supplementation. Education in dose adaption during physical and mental stress or emergency situations is essential to prevent life-threatening adrenal crises. Patients with adrenal insufficiency should carry an emergency card and emergency kit with them.

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