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"Adrenal Insufficiency"

Thomas Gilliland, Sylvie Dufour, Gerald I Shulman, Kitt Falk Petersen, Sukru H Emre
NAFLD is a common condition linked to obesity, type 2 diabetes, and metabolic syndrome. Simple hepatic steatosis is a risk factor for inflammatory reactions in the liver (NASH), which may lead to cirrhosis. While the mechanism is unclear, NAFLD and NASH are associated with panhypopituitarism, which in the pediatric population often results from craniopharyngioma or pituitary adenoma and the sequelae of treatment, causing hypothyroidism, adrenal insufficiency, hypogonadotropic hypogonadism, and GH deficiency...
October 20, 2016: Pediatric Transplantation
Giacomo Tirabassi, Gianmaria Salvio, Barbara Altieri, Cristina L Ronchi, Silvia Della Casa, Alfredo Pontecorvi, Giancarlo Balercia
An emerging branch of research is examining the linkage between Vitamin D and nonskeletal disorders, including endocrine diseases. In this regard, a still little studied aspect concerns the involvement of vitamin D in adrenal gland disorders. Adrenal gland disorders, which might be theoretically affected by vitamin D unbalance, include adrenal insufficiency, Cushing's syndrome, adrenocortical tumors and hyperaldosteronism. In this review, we provide an updated document, which tries to collect and discuss the limited evidence to be found in the literature about the relationship between vitamin D and adrenal disorders...
October 20, 2016: Reviews in Endocrine & Metabolic Disorders
S Noe, A von Werder, R Iakoubov, H Schneider, M Thaler, P Luppa, B Neu
Purpose: To investigate the kinetics of adrenocorticotropin (ACTH) following oral metyrapone administration and describe differences between ACTH-deficient and non-ACTH-deficient subjects. Methods: Patients from a tertiary endocrine center at a University Hospital in Munich, Germany, were tested for secondary adrenal insufficiency in a regular patient care setting. Metyrapone (Metopirone, HRA Pharma, France) was administered with a dosage of 40 mg/kg bodyweight at 8 a.m. Consecutive levels of ACTH were determined at 0, 60, 120, 180, and 240 min...
October 17, 2016: Experimental and Clinical Endocrinology & Diabetes
Chuan Shi, Fen Wang, Anli Tong, Xiao-Qian Zhang, Hong-Mei Song, Zheng-Yin Liu, Wei Lyu, Yue-Hua Liu, Wei-Bo Xia
BACKGROUND: Common variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B subunit 2 (NFKB2) gene. We present the first case of NFKB2 mutation in Asian population. METHODS AND RESULTS: An 18-year-old Chinese female with adrenocorticotropic hormone (ACTH) deficiency was admitted due to adrenal crisis and pneumonia. She had a history of recurrent respiratory infections since childhood and ectodermal abnormalities were noted during physical examination...
October 2016: Medicine (Baltimore)
Takamasa Tanaka, Norihiko Terada, Yoshiki Fujikawa, Takushi Fujimoto
Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disorder with diverse clinical presentations. A 79-year-old man was bedridden for six months due to flexion contractures of the bilateral hips and knees, along with hyponatremia. He was diagnosed with IAD based on the results of endocrine tests. After one month of corticosteroid replacement, he recovered and was able to stand up by himself. Although flexion contracture is a rare symptom of IAD, steroid replacement therapy may be effective, even for seemingly irreversibly bedridden elderly patients...
2016: Internal Medicine
William W Chance, Quynh-Nhu Nguyen, Reza Mehran, James W Welsh, Daniel R Gomez, Peter Balter, Ritsuko Komaki, Zhongxing Liao, Joe Y Chang
PURPOSE: We report our single-institution experience with stereotactic ablative radiotherapy (SABR) for adrenal metastasis and identify factors influencing outcomes, patterns of failure, and dosimetric thresholds for toxicity. METHODS AND MATERIALS: We identified patients with adrenal metastases treated with SABR from 2009 to 2015. Toxicity was evaluated with Common Terminology Criteria for Adverse Events v4.0. Local failures were categorized as in-field, marginal, or out-of-field...
September 13, 2016: Practical Radiation Oncology
Beatriz D S F Bonamichi, Stella L M Santiago, Débora R Bertola, Chong A Kim, Nivaldo Alonso, Berenice B Mendonca, Tania A S S Bachega, Larissa G Gomes
P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test...
October 10, 2016: Archives of Endocrinology and Metabolism
A Galbois, E Obadia, L Chalumeau-Lemoine, R Chelha
No abstract text is available yet for this article.
September 2016: European Review for Medical and Pharmacological Sciences
Radu Campean, Matthias Hasun, Claudia Stöllberger, Johannes Bucher, Josef Finsterer, Christoph Schnack, Franz Weidinger
BACKGROUND: Reversible left ventricular dysfunction, also termed Takotsubo cardiomyopathy, is rarely reported in Addison's disease after initiation of hormone replacement therapy. The pathogenesis of this cardiomyopathy is unknown. CASE PRESENTATION: A 41-year-old white woman with a history of autoimmune Hashimoto thyroiditis diagnosed 3 years earlier and acute adrenal insufficiency diagnosed 3 weeks earlier presented with new onset of heart failure New York Heart Association class IV, which had started shortly after initiation of hormone replacement therapy with hydrocortisone 20 mg/day and fludrocortisone 0...
October 12, 2016: Journal of Medical Case Reports
Haleigh A James, Robert A Wermers
No abstract text is available yet for this article.
October 2016: Mayo Clinic Proceedings
Khalid S Aljabri, Samia A Bokhari, Faisal Y Assiri, Muneera A Alshareef, Patan M Khan
BACKGROUND: Data on pituitary adenoma (PA) prevalence in Saudi Arabia are scarce. OBJECTIVE: To estimate the epidemiology of PA in a well-defined population. DESIGN: Retrospective analysis. SETTING: Departments of Endocrinology and Radiology at King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia. PATIENTS AND METHODS: Radiological and hormonal data of patients with pituitary adenoma by MRI were reviewed for the period January 2008 to December 2015...
September 2016: Annals of Saudi Medicine
Brande Brown, Levon Agdere, Cornelia Muntean, Karen David
BACKGROUND Allgrove syndrome, or triple "A" syndrome (3A syndrome), is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent. CASE REPORT Here, the authors report a case of Allgrove syndrome in a pediatric patient with delayed diagnosis in order to raise awareness of this potentially fatal disease as a differential diagnosis of alacrima...
October 4, 2016: American Journal of Case Reports
Frédérique Albarel, Jeanne Perrin, Margaux Jegaden, Florence Roucher-Boulez, Rachel Reynaud, Thierry Brue, Blandine Courbiere
Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected individuals. To date, only two pregnancies have been described in 46,XX CLAH patients with StAR mutations; these patients exhibited ovarian steroidogenesis along with spontaneous puberty and menarche and normal menses. The patient described here presented with CLAH caused by the homozygous (unreported, 1 bp) deletion c...
October 3, 2016: Human Reproduction
Emilie R Elliot, Aikaterini Theodoraki, Lakshmi R Jain, Neal J Marshall, Marta Boffito, Stephanie E Baldeweg, Laura J Waters
Ritonavir and cobicistat, used as pharmacokinetic enhancers in combination with some antiretrovirals (ARVs) for the treatment of HIV, are potent inhibitors of the CYP3A4 isoenzyme. Most glucocorticoids are metabolised via the CYP3A4 pathway and iatrogenic Cushing's syndrome (ICS), with possible secondary adrenal insufficiency (SAI), is a recognised complication following co-administration with ritonavir or cobicistat. A structured approach for identifying and managing potentially affected individuals has not been established...
October 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
Shahrzad Bakhtiar, Frank Ruemmele, Fabienne Charbit-Henrion, Eva Lévy, Frédéric Rieux-Laucat, Nadine Cerf-Bensussan, Peter Bader, Ulrich Paetow
Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type 1 diabetes mellitus, hypothyroidism, adrenal insufficiency, and vitiligo. Lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation...
2016: Frontiers in Pediatrics
Christy Foster, Abha Choudhary
Triple A syndrome, formerly known as Allgrove syndrome (AS), is characterized by achalasia, alacrima and adrenal insufficiency. Here we report an adolescent male with adrenal insufficiency who developed severe malnutrition secondary to a delayed diagnosis of achalasia. The severe malnutrition in our patient led to superior mesenteric artery (SMA) obstruction syndrome. Severe malnutrition to the point of SMA syndrome has not been previously described in the literature in Triple A syndrome.
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
David J Torpy
No abstract text is available yet for this article.
September 28, 2016: Endocrine Practice
Catherine Napier, Earn H Gan, Simon H S Pearce
Loperamide is the most commonly used antidiarrhoeal medication in the UK. We report a serious and hitherto undocumented adverse effect of chronic use in a 45-year-old man with inflammatory bowel disease. He presented to the endocrine clinic with fatigue and low libido; biochemical assessment revealed hypogonadism and adrenal insufficiency without any elevated adrenocorticotropic hormone. When symptoms allowed, loperamide was reduced and a short synacthen test (SST) showed a 'clear pass' with a normal peak cortisol of 833 nmol/L...
2016: BMJ Case Reports
Stéphanie Fontaine Carbonnel, Pascal Rippert, Isabelle Poirot, Dominique Gachet, Capucine de Lattre, Carole Vuillerot
OBJECTIVE: Since 2005, in France, corticosteroid therapy is now widely used in Duchenne muscular dystrophy (DMD). This treatment has changed our practice of pediatric rehabilitation teams. We describe here our 10-year clinical experience in treating DMD patients by CS according to international guidelines i.e. prednisone 0.75mg/kg/day started from the plateau of motor function. MATERIALS/PATIENTS AND METHODS: We conducted a prospective study. Information was given on the expected effects and side effects...
September 2016: Annals of Physical and Rehabilitation Medicine
Sommayya Aftab, Jaida Manzoor, Nabila Talat, Hafiz Sajid Khan, Maroof Subhanie, Nauman Abbas Khalid
Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. If it is associated with autonomic dysfunction, it is termed as 4-Asyndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A5-year boy presented with history of fits and altered sensorium for one day...
September 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
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