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Primary adrenal insufficiency

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
Jeffrey Wagner, Cara M Fleseriu, Aly Ibrahim, Justin S Cetas
BACKGROUND: Idiopathic intracranial hypertension (IIH) in patients with Cushing disease (CD), after treatment, is rarely described, in adults. The cause is believed to be multifactorial, potentially related to a relative decrease in cortisol after surgical resection or medical treatment of a corticotroph pituitary adenoma. We investigate our center's CD database (140 surgically and 60 medically [primary or adjunct] treated patients) for cases of IIH, describe our center's experience with symptomatic IIH, and review treatment strategies in adults with CD after transsphenoidal resection...
September 12, 2016: World Neurosurgery
Paul M Stewart, Beverly Mk Biller, Claudio Marelli, Candace Gunnarsson, Michael P Ryan, Gudmundur Johannsson
CONTEXT: Patients with adrenal insufficiency (AI) (primary [PAI], secondary to pituitary disease [PIT] and congenital adrenal hyperplasia [CAH]) have reduced life expectancy; however, the underlying explanation remains unknown. OBJECTIVE: To evaluate characteristics, comorbidities and hospitalizations in AI patients. DESIGN: Retrospective Observational Setting and Population: Using a US-based national payer database comprising >108 million members, strict inclusion criteria including diagnostic codes and steroid prescription records were used to identify 10,383 adults with AI; 1,014 with PAI, 8,818 with PIT and 551 with CAH...
September 13, 2016: Journal of Clinical Endocrinology and Metabolism
Shruti Bhandari, Katrina Agito, Esther I Krug
Bilateral adrenal hemorrhage (BAH) is a rare complication typically seen in critically ill patients, which can lead to acute adrenal insufficiency and death unless it is recognized promptly and treated appropriately. We describe the case of a 64-year-old man with polycythemia vera found to be unresponsive with fever, hypotension, tachycardia, and hypoglycemia. Electrocardiogram showed ST-elevation with elevated troponin, hemoglobin, prothrombin time, and partial thromboplastin time. He required aggressive ventilator and vasopressor support...
2016: Journal of Community Hospital Internal Medicine Perspectives
Elise M N Ferre, Stacey R Rose, Sergio D Rosenzweig, Peter D Burbelo, Kimberly R Romito, Julie E Niemela, Lindsey B Rosen, Timothy J Break, Wenjuan Gu, Sally Hunsberger, Sarah K Browne, Amy P Hsu, Shakuntala Rampertaap, Muthulekha Swamydas, Amanda L Collar, Heidi H Kong, Chyi-Chia Richard Lee, David Chascsa, Thomas Simcox, Angela Pham, Anamaria Bondici, Mukil Natarajan, Joseph Monsale, David E Kleiner, Martha Quezado, Ilias Alevizos, Niki M Moutsopoulos, Lynne Yockey, Cathleen Frein, Ariane Soldatos, Katherine R Calvo, Jennifer Adjemian, Morgan N Similuk, David M Lang, Kelly D Stone, Gulbu Uzel, Jeffrey B Kopp, Rachel J Bishop, Steven M Holland, Kenneth N Olivier, Thomas A Fleisher, Theo Heller, Karen K Winer, Michail S Lionakis
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroidism and adrenal insufficiency are most common. Developing any two of these classic triad manifestations establishes the diagnosis. Although widely recognized in Europe, where nonendocrine autoimmune manifestations are uncommon, APECED is less defined in patients from the Western Hemisphere...
August 18, 2016: JCI Insight
Nidhi Jain, Malvi Savani, Manyoo Agarwal, Dipen Kadaria
BACKGROUND: Hypoglycemia in a critical care setting is often multifactorial with iatrogenic insulin use, sulfonylurea (SU) use, sepsis, adrenal insufficiency and insulinoma among the common causes. Insulin autoimmune syndrome (IAS) is a rare cause of hypoglycemia characterized by the presence of insulin-binding autoantibodies to the sulfhydryl group-containing agents. We report a case of methimazole-induced IAS managed in the intensive care unit. CASE PRESENTATION: A 76-year-old woman with a history of primary hyperthyroidism was sent from a nursing home for unresponsiveness...
August 2016: Therapeutic Advances in Endocrinology and Metabolism
Marta P Baleva, Snejina Mihaylova, Petja Yankova, Iliana Atanasova, Milena Nikolova-Vlahova, Elissaveta Naumova
INTRODUCTION: Selective IgA deficiency (IgAD) is the most prevalent type of primary immune deficiencies, but partial IgA deficiency is even more common. Addison's disease is a rare condition associated with primary adrenal insufficiency due to infection or autoimmune destruction of the adrenals. The association between IgA deficiency and Addison's disease is very rare. CASE AND LABORATORY DATA: We observed a 22-year-old male patient with marked darkening of the skin, especially on the palms and areolae, jaundice on the skin and sclera, astheno-adynamia, hypotension (80/50 mm Hg), and pain in the right hypochondrium...
2016: Central-European Journal of Immunology
S Monticone, F Satoh, A S Dietz, R Goupil, K Lang, F Pizzolo, R D Gordon, R Morimoto, M Reincke, M Stowasser, P Mulatero
OBJECTIVE: Adrenal vein sampling (AVS) is the only reliable means to distinguish between aldosterone-producing adenoma and bilateral adrenal hyperplasia, the two most common subtypes of primary aldosteronism (PA). To distinguish between unilateral and bilateral disease is of fundamental importance because it allows to allocate patients to the correct management: unilateral adrenalectomy for aldosterone-producing adenoma or pharmacotherapy with mineralocorticoid receptor antagonists for individuals with bilateral adrenal hyperplasia...
September 2016: Journal of Hypertension
Masahiro Goto, Nao Shibata, Yukihiro Hasegawa
To find a simple method to screen for iatrogenic childhood adrenal insufficiency, we retrospectively examined the results of CRH stimulation tests performed 212 times on 111 subjects (68 males; age at commencement of initial treatment ranged 0.0-19.8 yr; median age, 5.8 yr). Before the commencement of this study, 97 subjects had been treated with glucocorticoids and 14 subjects with West syndrome had been treated with synthetic adrenocorticotropic hormone. Duration of the primary treatment ranged from 15 to 2150 days...
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
Carla Bizzarri, Nicole Olivini, Stefania Pedicelli, Romana Marini, Germana Giannone, Paola Cambiaso, Marco Cappa
BACKGROUND: Salt-wasting represents a relatively common cause of emergency admission in infants and may result in life-threatening complications. Neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron leading to reduced ability to concentrate urine. METHODS: A retrospective chart review was conducted for infants hospitalized in a single Institution from 1(st) January 2006 to 31(st) December 2015. The selection criterion was represented by the referral to the Endocrinology Unit for hyponatremia (serum sodium <130 mEq/L) of suspected endocrine origin at admission...
2016: Italian Journal of Pediatrics
Georgios Z Papadakis, Steven M Holland, Martha Quezado, Nicholas J Patronas
Disseminated cryptococcosis most commonly occurs in immunosuppressed patients and can rarely affect the adrenal glands. We report on a patient with biopsy proven bilateral adrenal cryptococcosis resulting in primary adrenal insufficiency, which was evaluated with whole-body positron emission tomography/computed tomography scan using (18)F-FDG. Both enlarged adrenal glands presented intensely increased (18)F-FDG activity in the periphery, while central necrotic regions were photopenic. Although diagnosis was established by adrenal gland biopsy, (18)F-FDG positron emission tomography/computed tomography scan can significantly contribute to the assessment of disease activity and monitoring of treatment response...
July 29, 2016: Endocrine
Richard Cathomas, Simon J Crabb, Michael Mark, Ralph Winterhalder, Christian Rothermundt, Tony Elliott, Philippe von Burg, Heike Kenner, Stefanie Hayoz, Simona Berardi Vilei, Daniel Rauch, Enrico Roggero, Markus G Mohaupt, Jürg Bernhard, Gabriela Manetsch, Silke Gillessen
BACKGROUND: We tested whether a switch maintenance treatment with orteronel, an oral inhibitor of androgen biosynthesis, prolongs disease control in men with metastatic castration-resistant prostate cancer (mCRPC) after documented disease stabilization with docetaxel. METHODS: Men with mCRPC and non-progressive disease after a cumulative dose of ≥300 mg/m(2) docetaxel for first line treatment were randomized 1:1 to receive orteronel 300 mg twice daily or placebo...
December 2016: Prostate
Alessandro Prete, Rosa Maria Paragliola, Filomena Bottiglieri, Carlo Antonio Rota, Alfredo Pontecorvi, Roberto Salvatori, Salvatore Maria Corsello
Successful treatment of Cushing syndrome causes transient or permanent adrenal insufficiency deriving from endogenous hypercortisolism-induced hypothalamus-pituitary-adrenal-axis suppression. We analyzed pre-treatment factors potentially affecting the duration of adrenal insufficiency. We conducted a retrospective analysis on patients successfully treated for Cushing disease (15 patients) who underwent transsphenoidal surgery, and nonmalignant primary adrenal Cushing syndrome (31 patients) who underwent unilateral adrenalectomy, divided into patients with overt primary adrenal Cushing syndrome (14 patients) and subclinical primary adrenal Cushing syndrome (17 patients)...
July 9, 2016: Endocrine
Omar Bjanid, Piotr Adamczyk, Małgorzata Stojewska, Dagmara Roszkowska-Bjanid, Magdalena Paszyna-Grześkowiak, Agnieszka Jędzura, Joanna Oświęcimska, Katarzyna Ziora, Aurelia Morawiec-Knysak, Maria Szczepańska
A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia...
July 6, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Mary B Abraham, Vinutha B Shetty, Fiona McKenzie, Jacqueline Curran
BACKGROUND: The etiology of primary adrenal insufficiency has implications for further management of the condition. CASE CHARACTERISTICS: A 5-year-old boy presented in adrenal crisis with glucocorticoid and mineralocorticoid deficiency. OBSERVATION: Investigations confirmed primary adrenal insufficiency and ruled out the common etiologies. Genetic testing identified a novel NR0B1/DAX gene mutation. MESSAGE: A genetic diagnosis in children with primary adrenal insufficiency is useful to provide genetic counselling...
June 8, 2016: Indian Pediatrics
Noriyoshi Ishikawa, Mamiko Nagase, Saki Takami, Asuka Araki, Nahoko Ishikawa, Chiaki Koike, Hiroaki Shiina, Riruke Maruyama
Adrenocortical carcinomas are relatively rare, but they are considered to be highly aggressive malignant tumors. Sarcomatoid carcinomas represent an even more aggressive type. Bilateral malignant adrenal tumors are extraordinary rare, except for those that represent metastatic spread from a primary neoplasm. Here we report a case of a 69-year-old woman who presented symptoms that raised strong suspicions of adrenal insufficiency. Bilateral adrenal masses, identified in the imaging study, were responsible for the clinical manifestation and surgically resected...
June 27, 2016: International Journal of Surgical Pathology
Laurence Amar, Jean Philippe Baguet, Stéphane Bardet, Philippe Chaffanjon, Bernard Chamontin, Claire Douillard, Pierre Durieux, Xaxier Girerd, Philippe Gosse, Anne Hernigou, Daniel Herpin, Pascal Houillier, Xavier Jeunemaitre, Francis Joffre, Jean-Louis Kraimps, Hervé Lefebvre, Fabrice Ménégaux, Claire Mounier-Véhier, Juerg Nussberger, Jean-Yves Pagny, Antoinette Pechère, Pierre-François Plouin, Yves Reznik, Olivier Steichen, Antoine Tabarin, Maria-Christina Zennaro, Franck Zinzindohoue, Olivier Chabre
The French Endocrinology Society (SFE) French Hypertension Society (SFHTA) and Francophone Endocrine Surgery Association (AFCE) have drawn up recommendations for the management of primary aldosteronism (PA), based on an analysis of the literature by 27 experts in 7 work-groups. PA is suspected in case of hypertension associated with one of the following characteristics: severity, resistance, associated hypokalemia, disproportionate target organ lesions, or adrenal incidentaloma with hypertension or hypokalemia...
July 2016: Annales D'endocrinologie
C S Haas, A-H Rahvar, S Danneberg, H Lehnert, H Moenig, B Harbeck
Hydrocortisone replacement therapy is a cornerstone in the treatment of adrenal insufficiency (AI). While urinary cortisol has been used as a diagnostic tool for AI, it remains unclear whether it is a useful parameter to monitor hydrocortisone replacement therapy. Aim of this study was to evaluate possible differences in cortisol metabolism between adrenal insufficient patients and healthy subjects and to assess the value of urinary cortisol in AI management. In a case-control study, urinary cortisol excretion was determined in 14 patients with primary and secondary AI receiving hydrocortisone infusions from midnight to 8:00 AM...
September 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
L L LiYeung, T H Lui
INTRODUCTION: Symptomatic adrenal adenoma usually presents with systemic symptoms. Depending on the function of the adenoma, the patient can present with pheochromocytoma-like symptoms; primary hyperaldosteronism and Cushing syndrome (weight gain, weakness, depression, and bruising). CASE REPORT: A 41 year-old lady presented with multiple metatarsal and phalangeal fractures of the both feet without significant injury. DEXA scan showed evidence of osteoporosis. Investigations showed that the picture was compatible with adrenal Cushing syndrome...
October 2015: Journal of Orthopaedic Case Reports
Sikarin Upala, Wai Chung Yong, Anawin Sanguankeo
CONTEXT: Autoimmune polyglandular syndrome is a rare condition that causes a variety of clinical symptoms due to autoimmune processes involving multiple endocrine organs. Its vague presentation can cause missed or delayed treatment for adrenal insufficiency, resulting in a life-threatening adrenal crisis. CASE REPORT: A 21-yr-old man presented with lethargy, hypotension, hyponatremia, hypoglycemia, and an elevated thyroid-stimulating hormone level. He was binge drinking the day before presentation...
May 2016: North American Journal of Medical Sciences
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