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Primary adrenal insufficiency

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https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#1
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
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. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28911151/expanding-the-phenotypic-and-genotypic-landscape-of-autoimmune-polyendocrine-syndrome-type-1
#2
Elizaveta M Orlova, Leila S Sozaeva, Maria A Kareva, Bergithe E Oftedal, Anette S B Wolff, Lars Breivik, Ekaterina Y Zakharova, Olga N Ivanova, Olle Kämpe, Ivan I Dedov, Per M Knappskog, Valentina A Peterkova, Eystein S Husebye
Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare. Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort...
September 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28898882/hospitalisation-in-children-with-adrenal-insufficiency-and-hypopituitarism-is-there-a-differential-burden-between-boys-and-girls-and-between-age-groups
#3
R Louise Rushworth, Georgina L Chrisp, Benjamin Dean, Henrik Falhammar, David J Torpy
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. Denominator populations were extracted from national statistics datasets. RESULTS: There were 3,779 admissions for treatment of AI/hypopituitarism in patients aged 0-19 years, corresponding to an average admission rate of 48...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28893233/clinical-characteristics-of-adrenal-crisis-in-adult-population-with-and-without-predisposing-chronic-adrenal-insufficiency-a-retrospective-cohort-study
#4
Masahiro Iwasaku, Maki Shinzawa, Shiro Tanaka, Kimihiko Kimachi, Koji Kawakami
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 7.4 million patients from 145 acute care hospitals between January 1, 2003 and April 30, 2014...
September 11, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28878203/biventricular-cardiac-hypertrophy-in-a-patient-with-primary-aldosteronism-and-atrial-septal-defect
#5
Tjokorda Gde Dalem Pemayun, Ridho M Naibaho, Muhammad Achmad Sungkar
BACKGROUND Primary aldosteronism can be caused by adrenocortical adenoma and is usually associated with left ventricular hypertrophy. Biventricular cardiac hypertrophy and heart failure in the presence of a pre-existing atrial septal defect (ASD) are a rare association of primary aldosteronism. CASE REPORT A 33-year-old woman with resistant hypertension and refractory hypokalemia presented with signs and symptoms of heart failure. She had previously been diagnosed having a right adrenal tumor and ostium secundum type ASD...
September 7, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28863857/revised-consensus-statement-on-the-preventive-and-symptomatic-care-of-patients-with-leukodystrophies
#6
REVIEW
Laura A Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria Escolar, Sarah H Evans, Ali Fatemi, Jamie Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan Maddock, Edna Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas Langan, Richard Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L Renaud, William Rizzo, Jay Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I Wolf, Ayelet Zerem, Joshua L Bonkowsky, Genevieve Bernard, Keith van Haren, Adeline Vanderver
Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies...
August 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28835258/acute-hypopituitarism-associated-with-periorbital-swelling-and-cardiac-dysfunction-in-a-patient-with-pituitary-tumor-apoplexy-a-case-report
#7
Nobumasa Ohara, Yuichiro Yoneoka, Yasuhiro Seki, Katsuhiko Akiyama, Masataka Arita, Kazumasa Ohashi, Kazuo Suzuki, Toshinori Takada
BACKGROUND: Pituitary tumor apoplexy is a rare clinical syndrome caused by acute hemorrhage or infarction in a preexisting pituitary adenoma. It typically manifests as an acute episode of headache, visual disturbance, mental status changes, cranial nerve palsy, and endocrine pituitary dysfunction. However, not all patients present with classical symptoms, so it is pertinent to appreciate the clinical spectrum of pituitary tumor apoplexy presentation. We report an unusual case of a patient with pituitary tumor apoplexy who presented with periorbital edema associated with hypopituitarism...
August 24, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28834559/improving-the-pre-hospital-safety-of-steroid-dependent-patients-in-northern-england-a-hospital-initiated-ambulance-service-registration-pathway
#8
Anna L Mitchell, Kerri Devine, Vikram Lal, Paul Galloway, Matthew House, Katherine White, Julie Watson, Steve Parry, Margaret Miller, Margaret Morris, R Andy James, Petros Perros, Simon Hs Pearce, Richard Quinton
Acute adrenal crisis is a life-threatening medical emergency requiring immediate recognition and treatment. Among individuals with primary adrenal insufficiency it has a frequency of 6-8 per 100 patient-years(1) . Unfortunately, delays in diagnosis and management of acute adrenal crisis are commonplace - even in patients with documented steroid-dependency - constituting an avoidable source of patient harm. This article is protected by copyright. All rights reserved.
August 23, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28820232/recognizing-and-managing-adrenal-disorders-in-the-emergency-department
#9
Amy Cutright, Stephen Ducey, Claudia L. Barthold
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...
September 2017: Emergency Medicine Practice
https://www.readbyqxmd.com/read/28815660/absorption-and-tolerability-of-taste-masked-hydrocortisone-granules-in-neonates-infants-and-children-under-6%C3%A2-years-of-age-with-adrenal-insufficiency
#10
Uta Neumann, Martin J Whitaker, Susanna Wiegand, Heiko Krude, John Porter, Madhu Davies, Dena Digweed, Bernard Voet, Richard J Ross, Oliver Blankenstein
OBJECTIVES: There is no licensed, dose-appropriate formulation of hydrocortisone for children with adrenal insufficiency (AI) and patients rely on compounded adult medication. The aim of this study was to evaluate the absorption, palatability and safety of Infacort(®) , an immediate-release, granule formulation of hydrocortisone with taste masking. STUDY DESIGN: Single site with satellites attended by a "flying" doctor from investigator site. Open-label, single-dose study in three consecutive child cohorts (n = 24) with AI; Cohort 1, children aged 2 to <6 years (n = 12); Cohort 2, infants aged 28 days to <2 years (n = 6); Cohort 3, neonates aged 1 to <28 days (n = 6)...
August 16, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28794358/the-clinical-and-hormonal-characteristics-of-primary-adrenal-lymphomas-the-necessity-of-early-detection-of-adrenal-insufficiency
#11
Ko Harada, Kosuke Kimura, Masaya Iwamuro, Tomohiro Terasaka, Yoshihisa Hanayama, Eisei Kondo, Eiko Hayashi, Tadashi Yoshino, Fumio Otsuka
Objective To analyze the clinical and endocrine characteristics of patients with primary adrenal lymphoma. Patients We retrospectively reviewed the cases of five patients with primary adrenal lymphoma who were treated in our hospital between April 2004 and March 2015. We investigated the characteristics of the clinical and pathological findings, treatment, prognosis and complications of adrenal insufficiency. Results Adrenal insufficiency, which was confirmed by the laboratory data at the initial presentation, was observed in two cases...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28793974/corticotropin-releasing-factor-receptor-1-antagonism-is-ineffective-for-women-with-posttraumatic-stress-disorder
#12
Boadie W Dunlop, Elisabeth B Binder, Dan Iosifescu, Sanjay J Mathew, Thomas C Neylan, Julius C Pape, Tania Carrillo-Roa, Charles Green, Becky Kinkead, Dimitri Grigoriadis, Barbara O Rothbaum, Charles B Nemeroff, Helen S Mayberg
BACKGROUND: Medication and psychotherapy treatments for posttraumatic stress disorder (PTSD) provide insufficient benefit for many patients. Substantial preclinical and clinical data indicate abnormalities in the hypothalamic-pituitary-adrenal axis, including signaling by corticotropin-releasing factor, in the pathophysiology of PTSD. METHODS: We conducted a double-blind, placebo-controlled, randomized, fixed-dose clinical trial evaluating the efficacy of GSK561679, a corticotropin-releasing factor receptor 1 (CRF1 receptor) antagonist in adult women with PTSD...
July 4, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28780517/mitotane-effects-on-the-hypothalamic-pituitary-adrenal-axis-in-patients-with-adrenocortical-carcinoma
#13
Giuseppe Reimondo, Soraya Puglisi, Barbara Zaggia, Vittoria Basile, Laura Saba, Paola Perotti, Silvia De Francia, Marco Volante, Maria Chiara Zatelli, Salvatore Cannavò, M Terzolo
OBJECTIVE: Mitotane, a drug used to treat adrenocortical cancer (ACC), inhibits multiple enzymatic steps of adrenocortical steroid biosynthesis, potentially causing adrenal insufficiency. Recent studies in vitro have also documented a direct inhibitory effect of mitotane at the pituitary level. The present study was aimed to assess the hypothalamic pituitary adrenal axis in ACC patients receiving mitotane. DESIGN AND METHODS: We prospectively enrolled 16 patients on adjuvant treatment with mitotane after radical surgical resection of ACC, who underwent standard hormone evaluation and h-CRH stimulation...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28764794/exploration-of-knowledge-and-understanding-in-patients-with-primary-adrenal-insufficiency-a-mixed-methods-study
#14
L M Shepherd, A A Tahrani, C Inman, W Arlt, D M Carrick-Sen
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. METHODS: Ten adult patients with PAI were purposefully recruited from two hospitals in a tertiary NHS Trust in England, UK...
August 1, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28758924/unusual-onset-of-celiac-disease-and-addison-s-disease-in-a-12-year-old-boy
#15
Francesco Miconi, Emanuela Savarese, Giovanni Miconi, Gabriele Cabiati, Valentina Rapaccini, Nicola Principi, Susanna Esposito
BACKGROUND: Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD. CASE PRESENTATION: A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here...
July 29, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28757874/a-rare-case-of-primary-bilateral-adrenal-lymphoma
#16
Veeraraghavan Meyyur Aravamudan, Phang Kee Fong, Yang Shiyao Sam, Pavel Singh, Siok-Bian Ng, Gollamudi Satya Pavan Kumar
Lymphoma may involve the adrenal glands, but primary lymphoma is rare. Only a few cases have been reported in medical literature. Primary adrenal lymphoma is extremely rare, accounting for <1% of non-Hodgkin lymphomas. We here present a case of a middle-aged female who presented with persistent fever for three weeks. She also reported significant weight loss of more than 10 kgs over the duration of three months. Computed tomography of the thorax and abdomen and pelvis demonstrated bilateral adrenal masses...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28750490/secondary-adrenal-insufficiency-from-the-physiopathology-to-the-possible-role-of-modified-release-hydrocortisone-treatment
#17
Rosa M Paragliola, Salvatore M Corsello
Central adrenal insufficiency represents a life-threatening disorder that results from a reduced cortisol production due to an impairment production of adrenocorticotropic hormone. In particular, secondary AI results from pituitary disease that impedes the release of ACTH, while tertiary adrenal insufficiency is caused from an impaired synthesis of corticotropin-releasing hormone. Central adrenal insufficiency has an estimated prevalence of 150-280 per million, resulting more common than primary AI. Prompt diagnosis and management of this condition is crucial, but the diagnostic investigation can often be challenging, in particular in cases of recent onset of secondary adrenal insufficiency...
July 27, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28748012/-association-between-williams-syndrome-and-adrenal-insufficiency
#18
Meryem Rchachi, Maazou Mahamane Larwanou, Hanan El Ouahabi, Farida Ajdi
Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28741070/late-onset-x-linked-adrenal-hypoplasia-dax-1-nr0b1-two-new-adult-onset-cases-from-a-single-center
#19
Nikolaos Kyriakakis, Tolulope Shonibare, Julie Kyaw-Tun, Julie Lynch, Carlos F Lagos, John C Achermann, Robert D Murray
PURPOSE: DAX-1 (NR0B1) is an orphan nuclear receptor, which plays a critical role in development and regulation of the adrenal gland and hypothalamo-pituitary-gonadal axis. Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men. Presentation is typically with adrenal insufficiency (AI) during infancy or childhood. To date only eight cases/kindreds are reported to have presented in adulthood. METHODS: We describe two new cases of men with DAX-1 mutations who presented in adulthood and who were diagnosed at a large University Hospital...
July 24, 2017: Pituitary
https://www.readbyqxmd.com/read/28689853/identification-of-patients-with-primary-ovarian-insufficiency-caused-by-autoimmunity
#20
Jing Gao, Xue Jiao, Yujie Dang, Jing Li, Guiyu Li, Ting Han, Yixun Liu, Yingying Qin, Zi-Jiang Chen
Autoimmune pathogenesis is responsible for a subset of primary ovarian insufficiency (POI) cases. The significance of autoantibodies for POI, however, remains unclear. A total of 250 women with idiopathic POI and 256 age-matched healthy women were enrolled. The presence in serum of adrenal cortex autoantibody (AAA), detected by indirect immunofluorescence and non-organ-specific antibodies, including antinuclear antibody, anti-cardiolipin antibody, and anti-double stranded DNA antibody, detected by enzyme-linked immunosorbent assay, was compared...
June 21, 2017: Reproductive Biomedicine Online
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