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    566 results match your criteria Adrenal Insufficiency & Adrenal Crisis

    1 OF 12

    Primary adrenal insufficiency due to hereditary apolipoprotein AI amyloidosis: endocrine involvement beyond hypogonadism.
    Amyloid 2018 Feb 15:1-4. Epub 2018 Feb 15.
    a Department of Endocrinology and Nutrition , Hospital Clínic , Barcelona , Spain.
    Several mutations in the gene encoding apolipoprotein AI (apoAI) have been described as a cause of familial amyloidosis. Individuals with apoAI-derived (AApoAI) amyloidosis frequently manifest with liver, kidney, laryngeal, skin and myocardial involvement. Although primary hypogonadism (PH) is considered almost pathognomonic of this disease, until now, primary adrenal insufficiency (PAI) has not been described as a common clinical feature. Read More

    Evaluation of the frequency of adrenal crises and preventive measures in patients with primary and secondary adrenal insufficiency in Switzerland.
    Swiss Med Wkly 2018 Jan 29;148:w14586. Epub 2018 Jan 29.
    Division of Diabetology, Endocrinology and Metabolism, University Hospital of Bern, Inselspital, Switzerland / Division of Endocrinology, Diabetology and Metabolism, University Hospital of Basel, Switzerland.
    Aims Of The Study: Adrenal insufficiency is a dangerous clinical condition, leading to significant morbidity or mortality in situations with inadequate glucocorticoid replacement treatment. We aimed to assess preventive measures in adrenal insufficiency and the incidence and risk factors of adrenal crisis, as well as to test the patients' knowledge about their disease.

    Methods: All patients in May and June 2016 and December 2016 and January 2017 with primary (17. Read More

    Extent of surgery for phaeochromocytomas in the genomic era.
    Br J Surg 2018 Jan;105(2):e84-e98
    Department of Clinical and Experimental Medicine, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.
    Background: Germline mutations are present in 20-30 per cent of patients with phaeochromocytoma. For patients who develop bilateral disease, complete removal of both adrenal glands (total adrenalectomy) will result in lifelong adrenal insufficiency with an increased risk of death from adrenal crisis. Unilateral/bilateral adrenal-sparing surgery (subtotal adrenalectomy) offers preservation of cortical function and independence from steroids, but leaves the adrenal medulla in situ and thus at risk of developing new and possibly malignant disease. Read More

    SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.
    Ann Endocrinol (Paris) 2018 Feb 12;79(1):1-22. Epub 2018 Jan 12.
    Service d'endocrinologie diabétologie pédiatrique, hôpital Robert-Debré, centre de référence des maladies endocriniennes rares de la croissance et du développement, université Paris Diderot, Assistance publique-Hôpitaux de Paris, 48, boulevard Sérurier, 75019 Paris, France.
    The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the adult and child, based on an analysis of the literature by 19 experts in 6 work-groups. A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms except hyperpigmentation which is observed in primary adrenal insufficiency. Diagnosis rely on plasma cortisol and ACTH measurement at 8am and/or the cortisol increase after synacthen administration. Read More

    Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention.
    J Pediatr Endocrinol Metab 2018 Jan;31(2):213-219
    Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles, Los Angeles, CA, USA.
    Background: Classical congenital adrenal hyperplasia (CAH) is a potentially life-threatening condition, and adrenal crisis is a major cause of morbidity and mortality in affected children. Medical-alert identification (ID) could prevent complications of adrenal crisis by identifying the need for time-sensitive, critical treatment. Our objectives were to evaluate usage of medical-alert IDs by CAH youth, ownership and awareness of IDs amongst their parents, and the effect of an in-clinic educational intervention on ID utilization. Read More

    Isolated unilateral adrenal gland hemorrhage following motor vehicle collision: a case report and review of the literature.
    J Med Case Rep 2017 Dec 26;11(1):358. Epub 2017 Dec 26.
    Department of General Surgery, Henry Ford Wyandotte Hospital, 2333 Biddle Ave, Wyandotte, MI, 48192, USA.
    Background: Adrenal gland trauma is a rare condition that typically stems from blunt force trauma, and is associated with multiple organ injuries. Alternatively, isolated adrenal gland trauma is extremely rare, accounting for only 1.5 to 4% of all adrenal trauma cases. Read More

    Stress-Dosed Glucocorticoids and Mineralocorticoids Before Intensive Endurance Exercise in Primary Adrenal Insufficiency.
    Clin J Sport Med 2017 Dec 19. Epub 2017 Dec 19.
    Endocrinology and Metabolism, Wake Forest University, Winston-Salem, NC.
    Patients with primary adrenal insufficiency (PAI) require increased doses of glucocorticoids and mineralocorticoids during stressors, such as surgery, trauma, and sepsis. Although current guidelines exist for dose adjustments in these situations, there is no accepted dosing regimen for patients with PAI participating in intensive endurance exercise. Given the extensive physiologic stress of events, such as marathons, triathlons, and similar events, it is likely that a "stress-dose" of adrenal replacement therapy will not only prevent adrenal crisis, but also improve performance. Read More

    Polyendocrinopathy Resulting From Pembrolizumab in a Patient With a Malignant Melanoma.
    J Endocr Soc 2017 Jun 28;1(6):646-649. Epub 2017 Apr 28.
    Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, 75014 Paris, France.
    Introduction: Checkpoint inhibitors have significantly improved the prognosis of patients with advanced melanoma. These cancer immunotherapy drugs have specific endocrine autoimmune toxicity. We describe a case of an adrenal insufficiency secondary to pembrolizumab, an anti-programmed cell death-1 monoclonal antibody. Read More

    Evaluation of Evidence of Adrenal Insufficiency in Trials of Normocortisolemic Patients Treated With Mifepristone.
    J Endocr Soc 2017 Apr 21;1(4):237-246. Epub 2017 Feb 21.
    Corcept Therapeutics, Menlo Park, California 94025.
    Context: Adrenal insufficiency (AI) is an important medical concern for clinicians when normocortisolemia is achieved during treatment of endogenous Cushing syndrome (CS).

    Objective: To examine symptoms of potential AI in a large population of normocortisolemic patients without CS treated with mifepristone, a glucocorticoid receptor antagonist indicated for the treatment of patients with CS.

    Methods: We conducted a pooled safety analysis of five phase 3, placebo-controlled clinical trials of normocortisolemic adults without CS but diagnosed with psychotic depression (n = 1460). Read More

    MANAGEMENT OF ENDOCRINE DISEASE: Fertility, pregnancy and lactation in women with adrenal insufficiency.
    Eur J Endocrinol 2018 Feb 30;178(2):R45-R53. Epub 2017 Nov 30.
    Klinik für EndokrinologieDiabetologie und Klinische Ernährung, UniversitätsSpital Zürich, Zürich, Switzerland
    With the introduction of hormonal substitution therapy in the 1950s, adrenal insufficiency (AI) has been turned into a manageable disease in pregnant women. In fact, in the light of glucocorticoid replacement therapy and improved obstetric care, it is realistic to expect good maternal and fetal outcomes in patients with AI. However, there are still a number of challenges such as establishing the diagnosis of AI in pregnant women and optimizing the treatment of AI and related comorbidities prior to as well as during pregnancy. Read More

    Group 6. Modalities and frequency of monitoring of patients with adrenal insufficiency. Patient education.
    Ann Endocrinol (Paris) 2017 Dec 1;78(6):544-558. Epub 2017 Dec 1.
    Service d'endocrinologie diabétologie pédiatrique, hôpital Robert-Debré, université Paris-Diderot, centre de référence des maladies endocriniennes rares de la croissance et du développement, Assistance publique-hôpitaux de Paris, 48, boulevard Sérurier, 75019 Paris, France.
    Patients with adrenal insufficiency require regular, specialised monitoring in order to optimise their replacement therapy, to detect signs of under- and over-dosage, and to examine for possible associated disorders (auto-immune disorders in the case of auto-immune primary adrenal insufficiency either isolated or as part of auto-immune polyendocrinopathy syndrome type 1; illnesses with underlying monogenic causes). The transition period between adolescence and adulthood represents an added risk of a breakdown in monitoring which requires particular attention from medical teams and coordination between adult and pediatric medical teams. It is essential to encourage patient autonomy in the management of their illness, notably their participation in treatment education programs, in particular programs that target avoidance of, or early treatment of acute adrenal insufficiency. Read More

    Group 1. Epidemiology of primary and secondary adrenal insufficiency: Prevalence and incidence, acute adrenal insufficiency, long-term morbidity and mortality.
    Ann Endocrinol (Paris) 2017 Dec 27;78(6):490-494. Epub 2017 Nov 27.
    Service des maladies endocriniennes et métaboliques, hôpital Cochin, CHU Paris Centre, 75014 Paris, France.
    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. Read More

    Group 5: Acute adrenal insufficiency in adults and pediatric patients.
    Ann Endocrinol (Paris) 2017 Dec 23;78(6):535-543. Epub 2017 Nov 23.
    Service d'endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, hôpitaux universitaires Paris-Sud, AP-HP, 94275 Le Kremlin-Bicêtre, France; Inserm 1185, faculté médecine Paris-Sud, université Paris-Sud, université Paris-Saclay, 94276 Le Kremlin-Bicêtre, France.

    Acute development of Cushing syndrome in an HIV-infected child on atazanavir/ritonavir based antiretroviral therapy.
    Endocrinol Diabetes Metab Case Rep 2017 28;2017. Epub 2017 Oct 28.
    Divisions of Infectious Diseases.
    An 11-year-old male with perinatally acquired human immune deficiency virus (HIV) infection on antiretroviral regimen, which included abacavir plus lamivudine (Epzicom), didanosine, ritonavir and atazanavir presented with bilateral axillary striae, increased appetite, fatigue, facial swelling and acute weight gain. Two months prior to presentation, the patient had received a diagnostic and therapeutic intra-articular triamcinolone injection in the knee for pain relief and subsequently became progressively swollen in the face, developed striae bilaterally at the axillae, experienced increased appetite, fatigue and an 8 pound weight gain. During the endocrine workup, suspicion for adrenal insufficiency prompted 24-h urine collection for free cortisol, which was found to be undetectable (below LLQ of 1. Read More

    Acute-Onset Panhypopituitarism Nearly Missed by Initial Cosyntropin Testing.
    Case Rep Crit Care 2017 3;2017:7931438. Epub 2017 Oct 3.
    Medical University Clinic, Kantonsspital Aarau, Aarau, Switzerland.
    Introduction: Diagnosis of adrenal crisis and panhypopituitarism in patients with septic shock is difficult but crucial for outcome.

    Case: A 66-year-old woman with metastasized breast cancer presented to the ED with respiratory insufficiency and septic shock after a 2-day history of the flu. After transfer to the ICU, corticosteroids were started in addition to antibiotics, as the patient was vasopressor-nonresponsive. Read More

    Clues for early detection of autoimmune Addison's disease - myths and realities.
    J Intern Med 2018 Feb 3;283(2):190-199. Epub 2017 Nov 3.
    Department of Clinical Medicine, University of Bergen, Bergen, Norway.
    Background: Early detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life-threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well-described, but methodical investigations are scarce.

    Objective: Perform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD. Read More

    Primary adrenal insufficiency in adult population: a Portuguese Multicentre Study by the Adrenal Tumours Study Group.
    Endocr Connect 2017 Nov 31;6(8):935-942. Epub 2017 Oct 31.
    Department of EndocrinologyHospital de Braga, Braga, Portugal.
    Introduction: Primary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. No previous studies have characterized Portuguese patients with PAI.

    Aims: To characterize the clinical presentation, diagnostic workup, treatment and follow-up of Portuguese patients with confirmed PAI. Read More

    Adrenal Insufficiency in Pediatric Eosinophilic Esophagitis Patients Treated with Swallowed Topical Steroids.
    Pediatr Allergy Immunol Pulmonol 2017 Sep;30(3):135-140
    Gastrointestinal Eosinophilic Diseases Program, University of Colorado School of Medicine, Aurora, Colorado.
    Swallowed topical steroids (STS) are the only effective pharmacological therapy for eosinophilic esophagitis (EoE). Thus far, studies of small populations of EoE patients have reported conflicting results in relation to adrenal insufficiency (AI). We sought to measure AI in a clinical setting in children taking STS for EoE. Read More

    Adrenal crisis and autoimmune polyglandular syndromes.
    Proc (Bayl Univ Med Cent) 2017 Oct;30(4):427-428
    Department of Internal Medicine (Freeland) and Division of Pulmonary and Critical Care Medicine (Tsai-Nguyen, Pan, Mora), Baylor University Medical Center at Dallas; and the Texas A&M Health Science Center College of Medicine (Lueking).
    We report a 67-year-old woman who presented with adrenal crisis as a manifestation of autoimmune polyglandular syndrome 2, a polygenic disorder characterized by concurrent primary adrenal insufficiency and either autoimmune thyroid disease or type 1 diabetes mellitus. Read More

    I polymorphism of the glucocorticoid receptor and adrenal crisis in primary adrenal insufficiency.
    Endocr Connect 2017 Nov 27;6(8):685-691. Epub 2017 Sep 27.
    Endocrinology in CharlottenburgBerlin, Germany
    Context: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) are at a high risk of adrenal crisis (AC). Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR).

    Objectives: To determine if a number of intercurrent illnesses and AC are associated with the GR gene polymorphismI in patients with PAI and CAH. Read More

    Recognizing and managing adrenal disorders in the emergency department [digest].
    Emerg Med Pract 2017 Sep 22;19(9 Suppl Points & Pearls):S1-S2. Epub 2017 Sep 22.
    Emergency Physician, St. David's South Austin Medical Center, Austin, TX.
    Primary and secondary adrenal insufficiency are underrecognized conditions among emergency department patients, affecting an estimated 10% to 20% of critically ill patients. The signs and symptoms of cortisol deficit can be nonspecific and wide-ranging, and identification and swift treatment with stress-dosing of hydrocortisone is vital to avoid life-threatening adrenal crisis. Laboratory evaluation focuses on identification of electrolyte abnormalities typical of adrenal insufficiency, and while additional testing may depend on the type and severity of symptoms, it should not delay corticosteroid replacement. Read More

    A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.
    Endocrinol Diabetes Metab Case Rep 2017 4;2017. Epub 2017 Sep 4.
    Endocrinology in Charlottenburg.
    DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. Read More

    Addison's Disease: A Diagnostic Dilemma.
    Mymensingh Med J 2017 Jul;26(3):671-675
    Dr Shireen Afroz, Professor, Department of Pediatric Nephrology, Bangladesh Institute of Child Health & Dhaka Shishu (Children) Hospital, Sher-e-bangla Nagar Dhaka, Bangladesh; E-mail:
    Adrenal insufficiency is a rare disease, but is life threatening when overlooked. Addison's disease may be an acquired form of adrenal insufficiency due to the destruction or dysfunction of the adrenal cortex. It affects both glucocorticoid and mineralocorticoid function. Read More

    Hospitalisation in Children with Adrenal Insufficiency and Hypopituitarism: Is There a Differential Burden between Boys and Girls and between Age Groups?
    Horm Res Paediatr 2017 12;88(5):339-346. Epub 2017 Sep 12.
    Endocrine and Metabolic Unit, Royal Adelaide Hospital and University of Adelaide, Adelaide, South Australia, Australia.
    Background/aims: To determine the burden of hospitalisation in children with adrenal insufficiency (AI)/hypopituitarism in Australia.

    Methods: A retrospective study of Australian hospitalisation data. All admissions between 2001 and 2014 for patients aged 0-19 years with a principal diagnosis of AI/hypopituitarism were included. Read More

    Clinical characteristics of adrenal crisis in adult population with and without predisposing chronic adrenal insufficiency: a retrospective cohort study.
    BMC Endocr Disord 2017 Sep 11;17(1):58. Epub 2017 Sep 11.
    Department of Pharmacoepidemiology, Graduate School of Medicine and Public Health, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.
    Background: Adrenal crisis (AC) occurs in various clinical conditions but previous epidemiological studies in AC are limited to chronic adrenal insufficiency (AI) and sepsis. The aim of this study was to investigate characteristics of AC patients, including predisposing diseases and to describe candidate risk factors for AC such as comorbidities and glucocorticoid (GC) therapy.

    Methods: We conducted a retrospective cohort study using a claims database on 7. Read More

    An analysis of the relationship between serum cortisol and serum sodium in routine clinical patients.
    Pract Lab Med 2017 Aug 13;8:30-33. Epub 2017 Apr 13.
    Blood Sciences, Leeds General Infirmary, Leeds, UK.
    Objectives: Adrenal insufficiency is an uncommon cause of hyponatraemia that should not be overlooked due to the severe consequences of an Addisonian crisis. Using the laboratory database of a large teaching hospital, we have explored the relationship between serum sodium and serum cortisol, and have estimated the frequency of hypoadrenalism in severely hyponatraemic patients.

    Design And Methods: Data were gathered over a 23 month period from the Laboratory Information Management System at the Leeds Teaching Hospitals NHS Trust for instances where serum sodium and cortisol had been measured on a single sample. Read More

    Recognizing and managing adrenal disorders in the emergency department
    Emerg Med Pract 2017 09 1;19(9):1-24. Epub 2017 Sep 1.
    Assistant Professor of Emergency Medicine, Department of Emergency Medicine, University of Nebraska Medical Center, Omaha, NE
    Primary and secondary adrenal insufficiency are underrecognized conditions among emergency department patients, affecting an estimated 10% to 20% of critically ill patients. The signs and symptoms of cortisol deficit can be nonspecific and wide-ranging, and identification and swift treatment with stress-dosing of hydrocortisone is vital to avoid life-threatening adrenal crisis. Laboratory evaluation focuses on identification of electrolyte abnormalities typical of adrenal insufficiency, and while additional testing may depend on the type and severity of symptoms, it should not delay corticosteroid replacement. Read More

    [Adrenal crisis].
    Internist (Berl) 2017 Oct;58(10):1037-1041
    Medizinische Klinik und Poliklinik, Schwerpunkt Endokrinologie und Diabetologie, Universitätsklinikum Würzburg, Oberdürrbacherstr. 6, 97080, Würzburg, Deutschland.
    Patients with chronic adrenal insufficiency suffer from reduced quality of life and increased mortality. An association between mortality and adrenal crisis is assumed. The frequency of adrenal crisis is about 8/100 patient years. Read More

    Exploration of knowledge and understanding in patients with primary adrenal insufficiency: a mixed methods study.
    BMC Endocr Disord 2017 Aug 1;17(1):47. Epub 2017 Aug 1.
    School of Nursing, Institute of Clinical Sciences, College of Medical & Dental Sciences, University of Birmingham, Edgbaston, Birmingham, West Midlands, B15 2TT, UK.
    Background: Primary adrenal insufficiency (PAI) is a rare and severe condition requiring lifelong steroid replacement. During acute illness or stressful events, it is important to appropriately adjust glucocorticoid dose; failure to do so may lead to an adrenal crisis. The aim of the study was to explore patients PAI knowledge and understanding of the condition, steroid replacement adjustment during acute illness or stress and provided education. Read More

    Adrenal crisis in metastatic breast cancer.
    BMJ Case Rep 2017 Jul 6;2017. Epub 2017 Jul 6.
    Interne I: Internistische Onkologie, Hämatologie u. Gastroenterologie, Ordensklinikum Linz Krankenhaus d. Barmherzigen Schwestern Linz Betriebs GmbH, Linz, Austria.
    A female patient with oestrogen receptor-positive and human epidermal growth factor receptor 2 (HER2)-positive invasive lobular breast cancer presented with progressive disease on CT scan. Some days after initiation of antineoplastic chemotherapy and anti-HER2 targeted antibody therapy, the patient presented with profuse diarrhoea, neutropaenia, nausea and weakness. Althoughwas rapidly tackled as a causative agent of gastrointestinal complaints, clinical situation did not markedly improve despite proper antimicrobial treatment. Read More

    The Key to Adrenal Insufficiency Education: Repetition, Repetition, Repetition.
    Pediatr Endocrinol Rev 2017 Jun;14(Suppl 2):448-453
    Organic Acid Research Section (OARS) of the Medical Genomics and Metabolic Genetics Branch (MGMGB) National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
    Described more than 150 years ago by Thomas Addison, adrenal gland dysfunction, while treatable, remains a clinically significant and potentially fatal disease. Vague and non-specific symptomatology can delay diagnosis of adrenal insufficiency and lead to adrenal crisis. Affected individuals may delay self-management due to knowledge deficits or lack of required therapies. Read More

    Adrenal insufficiency - recognition and management.
    Clin Med (Lond) 2017 Jun;17(3):258-262
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Adrenal insufficiency is characterised by inadequate -glucocorticoid production owing to destruction of the adrenal cortex or lack of adrenocorticotropic hormone stimulation. In primary adrenal insufficiency, lack of mineralocorticoids is also a feature. Patients can present with an insidious onset of symptoms, or acutely in adrenal crisis, which requires prompt recognition and treatment. Read More

    Endocrine Emergencies With Neurologic Manifestations.
    Continuum (Minneap Minn) 2017 06;23(3, Neurology of Systemic Disease):778-801
    Purpose Of Review: This article provides an overview of endocrine emergencies with potentially devastating neurologic manifestations that may be fatal if left untreated. Pituitary apoplexy, adrenal crisis, myxedema coma, thyroid storm, acute hypercalcemia and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.

    Recent Findings: To identify the optimal management of endocrine emergencies, using formal clinical diagnostic criteria and grading scales such as those recently proposed for pituitary apoplexy will be beneficial in future prospective studies. Read More

    Thyrotoxicosis leading to adrenal crises reveals primary bilateral adrenal lymphoma.
    Endocrinol Diabetes Metab Case Rep 2017 16;2017. Epub 2017 May 16.
    Anatomopathology Department, Hospital de Egas Moniz C.H.L.O.-E.P.E, LisbonPortugal.
    Primary adrenal lymphoma is a rare malignancy. It frequently presents bilaterally and with symptoms of adrenal insufficiency. Amiodarone may induce secondary organ dysfunction, and thyrotoxicosis develops in 15% of cases. Read More

    A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.
    Medicine (Baltimore) 2017 May;96(21):e6994
    aDepartment of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Key Laboratory of Health and Family Planning Commission, Beijing, China bThe Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
    Rationale: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids.

    Patient Concerns: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. Read More

    Quality of compounded hydrocortisone capsules used in the treatment of children.
    Eur J Endocrinol 2017 Aug 16;177(2):239-242. Epub 2017 May 16.
    Institute for Experimental Paediatric EndocrinologyCharité Berlin, Berlin, Germany
    Objectives: Due to the lack of paediatric-licensed formulations, children are often treated with individualized pharmacy-compounded adult medication. An international web-based survey about the types of medication in children with adrenal insufficiency (AI) revealed that the majority of paediatric physicians are using pharmacy-compounded medication to treat children with AI. Observations of loss of therapy control in children with congenital adrenal hyperplasia with compounded hydrocortisone capsules and regained control after prescribing a new hydrocortisone batch led to this 'real world' evaluation of pharmacy-compounded paediatric hydrocortisone capsules. Read More

    Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.
    Endocr Connect 2017 Jul 26;6(5):289-296. Epub 2017 Apr 26.
    Departments of EndocrinologySanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Objective: Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator () gene mutations in a cohort of Indian APS1 patients. Read More

    A Complex Interplay: Cognitive Behavioural Therapy for Severe Health Anxiety in Addison's Disease to Reduce Emergency Department Admissions.
    Behav Cogn Psychother 2017 Jul 9;45(4):419-426. Epub 2017 Apr 9.
    Department of Psychology,University of Bath,Bath,UK.
    Background: Addison's disease (AD) is a rare chronic illness caused by adrenocortical insufficiency. Due to the pivotal role of the regulating hormone cortisol in AD, there is a common symptom overlap between the presentation of anxiety and adrenal crisis. Previous literature has identified the prevalence of anxiety in endocrinological disorders, however there is a paucity of research examining the complex interplay between AD and anxiety. Read More

    [A clinical analysis of 123 cases of primary empty sella].
    Zhonghua Nei Ke Za Zhi 2017 Apr;56(4):268-272
    Department of Endocrinology and Metabolism, General Hospital of Tianjin Medical University, Tianjin 300052, China.
    This study was conducted to analyze the clinical characteristics and pituitary function of patients with primary empty sella (PES).The clinical data from 123 hospitalized adult patients with PES from January 2010 to May 2016 were retrospectively studied.(1) The average age of the 123 (male 43, female 80) PES patients was (59. Read More

    Symptomatic adrenal suppression among children in Canada.
    Arch Dis Child 2017 04 9;102(4):338-339. Epub 2016 Nov 9.
    Department of Pediatrics (Endocrinology), Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
    Background: Adrenal suppression (AS) is an under-recognised side effect of glucocorticoid (GC) use. AS may go undetected until a physiological stress precipitates an adrenal crisis. The incidence of AS has not been established. Read More

    Clinical Characteristics of Patients with Adrenal Insufficiency in a General Hospital.
    Endocrinol Metab (Seoul) 2017 Mar 19;32(1):83-89. Epub 2017 Jan 19.
    Division of Endocrinology and Metabolism, Department of Internal Medicine, Keimyung University School of Medicine, Daegu, Korea.
    Background: Adrenal insufficiency (AI) is a life-threatening disorder caused by the deficiency of adrenal steroid hormones. This retrospective cross-sectional study investigated the characteristics of patients with AI in Korea.

    Methods: All consecutive patients with suspected AI who received care at a tertiary referral center in Korea in 2014 and underwent adrenocorticotropic hormone stimulation or insulin-tolerance testing were identified through a review of medical charts. Read More

    Nivolumab induced myxedema crisis.
    J Immunother Cancer 2017 21;5:13. Epub 2017 Feb 21.
    Department of Hematology/Oncology, St. John Hospital and Medical Center, 19229 Mack Ave Suite 23 Grosse Pointe Woods, Detroit, 48236 Michigan USA.
    Background: Nivolumab is an anti-programmed cell death (anti-PD-1) monoclonal antibody that is approved by Food and Drug Administration for treatment of metastatic non-small cell lung cancer, metastatic melanoma, relapsed Hodgkin lymphoma and advanced renal cell cancer. We report a rare case of myxedema crisis induced by nivolumab in a patient with metastatic squamous cell carcinoma of lung.

    Case Presentation: Fifty three-year old woman with metastatic squamous cell carcinoma currently on treatment with nivolumab presented with diffuse facial and tongue swelling, slurred speech, depressed mentation, fatigue and weakness. Read More

    Septo-optic dysplasia/de Morsier's syndrome.
    Saudi J Anaesth 2017 Jan-Mar;11(1):106-107
    Department of Anesthesia, São João Hospital Centre, Porto, Portugal; Department of Anesthesia, Medical Faculty, Oporto University, Porto, Portugal.
    Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and sudden death. Anesthetic management of SOD was associated with high perioperative mortality. Read More

    [Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
    An Pediatr (Barc) 2017 Aug 1;87(2):116.e1-116.e10. Epub 2017 Feb 1.
    Hospital Clínico Universitario Virgen Arrixaca, Murcia, España.
    Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. Read More

    Clinical features and practice patterns of treatment for adrenal crisis: a nationwide cross-sectional study in Japan.
    Eur J Endocrinol 2017 Mar;176(3):329-337
    Department of General MedicineNational Defense Medical College, Tokorozawa, Saitama, Japan.
    Context: Adrenal crisis is an endocrine emergency that requires prompt diagnosis and treatment. However, the clinical features and practice patterns of treatment for adrenal crisis are not completely understood.

    Objective: To investigate patient characteristics, comorbidities and treatments of adrenal crisis. Read More

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