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Primary adrenal insufficiency

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https://www.readbyqxmd.com/read/29344425/a-case-of-psychosis-in-a-patient-with-secondary-adrenal-insufficiency-a-possible-etiological-role-of-a-hypocortisolemic-induced-increase-in-proinflammatory-cytokines
#1
David R Spiegel, Aaron B Nelson, David C Lieb, Alexander M Pattison, Justin Smith, Patrice Zigrossi, Erin Godbout
Adrenal insufficiency is divided into three types based on the etiology of its development. In primary adrenal insufficiency, pathology resides in end-organ failure at the level of the adrenal cortex, while in secondary and tertiary adrenal insufficiency, impairment rests in the pituitary gland and hypothalamus, respectively. Regardless of etiology, adrenal insufficiency results in a hypocortisolemic condition. While the relationship between neuropsychiatric symptoms, especially psychosis, and hypercortisolemia has been extensively documented, the development of hypocortisolemia-induced psychosis is less common...
September 2017: Innovations in Clinical Neuroscience
https://www.readbyqxmd.com/read/29344029/primary-adrenal-lymphoma-presenting-with-adrenal-failure-a-case-report-and-review-of-the-literature
#2
Fariba Karimi
Introduction: Primary adrenal lymphoma is rare, with a few cases reported in the literature. Most often it manifests as bilateral adrenal lesions and adrenal insufficiency is a common complication. Case Presentation: A 53-year-old male was referred with abdominal discomfort and darkening of the skin since 1 month prior to admission. His workups detected large bilateral adrenal masses. The patient was admitted due to hypotension, and was diagnosed with adrenal insufficiency...
October 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29338844/sfe-sfedp-adrenal-insufficiency-french-consensus-introduction-and-handbook
#3
Yves Reznik, Pascal Barat, Jérôme Bertherat, Claire Bouvattier, Frédéric Castinetti, Olivier Chabre, Philippe Chanson, Christine Cortet, Brigitte Delemer, Bernard Goichot, Damien Gruson, Laurence Guignat, Emmanuelle Proust-Lemoine, Marie-Laure Raffin Sanson, Rachel Reynaud, Dinane Samara Boustani, Dominique Simon, Antoine Tabarin, Delphine Zenaty
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...
January 12, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29337446/-endocrinopathies-induced-by-immune-checkpoint-inhibitors
#4
Jaafar Jaafar, Maria Mavromati, Jacques Philippe
Immune checkpoint Inhibitors are new immunomodulatory treatments that have proven their anti-tumor efficacy in several advanced cancers. Nevertheless, their use has paved the way for multiple immunological adverse effects that affect many systems and organs including endocrine glands such as the pituitary, thyroid, adrenal and pancreas. Hypophysitis is the most common complication of anti-CTLA-4 monoclonal antibodies, while anti-PD-1 and anti-PD-L1 antibodies cause more thyroid complications. Adrenal insufficiency and type 1 diabetes are relatively less common...
January 10, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29300536/autoimmune-polyendocrine-syndrome-type-2-in-patient-with-severe-allergic-asthma-treated-with-omalizumab
#5
Anna Rams, Marek Żółciński, Weronika Zastrzeżyńska, Stanisław Polański, Agnieszka Serafin, Joanna Wilańska, Jacek Musiał, Stanisława Bazan-Socha
Asthma therapy with monoclonal antibodies is a promising and effective approach for those with a severe and refractory type of disease. Although such a targeted therapy is considered to be safe, unusual complications may occur. We present a case of a 45 year-old female patient with severe allergic asthma and chronic spontaneous urticaria, who developed autoimmune polyendocrine syndrome type 2 (APS-2) after 26 months of omalizumab administration. The patient was diagnosed with primary adrenal insufficiency (Addison's disease) and Hashimoto's thyroiditis accompanied by autoimmune atrophic gastritis...
January 4, 2018: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/29280740/latest-insights-on-the-etiology-and-management-of-primary-adrenal-insufficiency-in-children
#6
Tülay Güran
Primary adrenal insufficiency (PAI) is a heterogeneous group of clinical and genetic 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 more accurate genetic counseling for the family...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29260252/-functional-diagnostics-in-endocrinology
#7
REVIEW
C J Auernhammer, M Reincke
When investigating many endocrinological diseases, basal laboratory parameters are not sufficient to distinguish between physiological and pathological hormone secretion. Functional diagnostics plays a decisive role in this context. Stimulation and suppression tests are used depending on whether under- or over-function needs to be diagnosed. This review article discusses selected functional tests, each of which plays an important role in current guidelines. Indications and test principles, including their performance, reliability, and limitations, are discussed...
December 19, 2017: Der Internist
https://www.readbyqxmd.com/read/29233815/dual-release-hydrocortisone-treatment-glycometabolic-profile-and-health-related-quality-of-life
#8
Laura Maria Mongioì, Rosita Angela Condorelli, Sandro La Vignera, Aldo E Calogero
OBJECTIVE: Adrenal insufficiency (AI) is a chronic condition associated with increased mortality and morbidity. The treatment of AI in the last years it has been object of important changes due to the development of a dual-release preparation of hydrocortisone, that differs from previous therapeutic strategy as it contemplates a once-daily tablet that allows more closely mimicking the physiological circadian rhythm cortisol. The aim of the study was to evaluate the effects of dual-release hydrocortisone treatment on the glycometabolic profile and health-related quality of life of patients with AI...
December 12, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29229498/effect-of-once-daily-modified-release-hydrocortisone-versus-standard-glucocorticoid-therapy-on-metabolism-and-innate-immunity-in-patients-with-adrenal-insufficiency-dream-a-single-blind-randomised-controlled-trial
#9
Andrea M Isidori, Mary Anna Venneri, Chiara Graziadio, Chiara Simeoli, Daniela Fiore, Valeria Hasenmajer, Emilia Sbardella, Daniele Gianfrilli, Carlotta Pozza, Patrizio Pasqualetti, Stefania Morrone, Angela Santoni, Fabio Naro, Annamaria Colao, Rosario Pivonello, Andrea Lenzi
BACKGROUND: Conventional treatment of patients with adrenal insufficiency involves administration of glucocorticoids multiple times a day and has been associated with weight gain and metabolic impairment. The optimal glucocorticoid replacement therapy for these patients is highly debated because of the scarcity of evidence from randomised trials. We aimed to establish whether the timing and pharmacokinetics of glucocorticoid replacement therapy affect the metabolism and immune system of patients with adrenal insufficiency...
December 8, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29219830/a-rare-case-of-waterhouse-friderichsen-syndrome-during-primary-varicella-zoster-infection
#10
A F N Heitz, H M A Hofstee, L B S Gelinck, J B Puylaert
Primary Varicella zoster virus infection in adults is associated with a higher risk of complications when compared with the benign disease course of primary infection during childhood. We present a rare complication of adult primary Varicella zoster in the form of acute, irreversible adrenal insufficiency due to bilateral adrenal haemorrhage, which is also known as the WaterhouseFriderichsensyndrome.
October 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/29200139/hyperkalemia-and-acute-kidney-injury-in-an-adolescent-thinking-outside-the-box
#11
Adam Szadkowski, Allison J Pollock, Awni M Al-Subu
Addison disease is a rare endocrine disorder, which typically presents with nonspecific symptoms including weight loss, fatigue, and nausea in conjunction with hyponatremia and hyperkalemia. This case demonstrates key diagnostic clues in evaluation of an adolescent who presented with severe hyperkalemia and acute kidney injury that was resistant to insulin, glucose, and sodium polystyrene sulfonate and was found to have primary adrenal insufficiency.
December 1, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29183634/group-6-modalities-and-frequency-of-monitoring-of-patients-with-adrenal-insufficiency-patient-education
#12
Laurence Guignat, Emmanuelle Proust-Lemoine, Yves Reznik, Delphine Zenaty
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...
November 25, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29178636/a-novel-splice-site-variant-in-cyp11a1-in-trans-with-the-p-e314k-variant-in-a-male-patient-with-congenital-adrenal-insufficiency
#13
Montserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn, Jennifer M Gass, Thomas R Caulfield, Paldeep S Atwal
BACKGROUND: The CYP11A1 gene encodes the cytochrome P450 side-chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum in affected 46XY males may vary from surgically repairable defects including cryptorchidism and hypospadias to complete feminization of external gonads, accompanied by symptoms of adrenal dysfunction...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29176027/identification-of-a-novel-mutation-of-nr0b1-in-a-patient-with-x-linked-adrenal-hypoplasia-and-symptomatic-treatment
#14
Jing Yang, Yuncheng Lv, Ye Zhou, Xinhua Xiao
BACKGROUND: X-linked congenital adrenal hypoplasia (X-linked AHC) is characterized by acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty. Mutations in NR0B1, the gene located on Xp21.3 and encoding an orphan nuclear receptor named DAX1, are responsible for this disease. METHODS: The entire coding region of the NR0B1 gene of a 14-year-old X-linked AHC proband as well as his family members was sequenced...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29174931/group%C3%A2-1-epidemiology-of-primary-and-secondary-adrenal-insufficiency-prevalence-and-incidence-acute-adrenal-insufficiency-long-term-morbidity-and-mortality
#15
Olivier Chabre, Bernard Goichot, Delphine Zenaty, Jérôme Bertherat
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...
November 23, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29174200/group-2-adrenal-insufficiency-screening-methods-and-confirmation-of-diagnosis
#16
Philippe Chanson, Laurence Guignat, Bernard Goichot, Olivier Chabre, Dinane Samara Boustani, Rachel Reynaud, Dominique Simon, Antoine Tabarin, Damien Gruson, Yves Reznik, Marie-Laure Raffin Sanson
A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms (fatigue, anorexia, weight loss, hypotension, hyponatremia and hyperkalemia amongst adrenal causes of insufficiency). The diagnosis should be considered in case of pituitary disease or a state of shock. Treatment should be commenced immediately without waiting for confirmation from biochemical tests, which rely on cortisol level at 8am (expected to be low) and on ACTH level (expected to be high in the case of primary adrenal insufficiency)...
December 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29157485/la-chirurgie-d%C3%A2-%C3%A3-pargne-surr%C3%A3-nalienne-du-cortex-%C3%A3-la-m%C3%A3-dulla-cortical-sparing-surgery-from-cortex-to-medulla
#17
A Ferriere, V Kerlan, A Tabarin
The 2017 Endocrine Society annual meeting included several communications and debates on the conservative adrenal surgery in bilateral hereditary pheochromocytomas (BHP), bilateral adrenal macronodular hyperplasia (BAMH) and primary hyperaldosteronism (PHA). The general principle is to preserve a part of the adrenal cortex to prevent the occurrence of a definitive adrenal insufficiency. In BHP, cortical sparing surgery allows more than 50% of patients to maintain normal corticotropic function at 10 years with a low recurrence rate (~ 10%)...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29156052/primary-adrenal-insufficiency-managing-mineralocorticoid-replacement-therapy
#18
Daniela Esposito, Daniela Pasquali, Gudmundur Johannsson
Context: Mineralocorticoid (MC) replacement therapy in patients with primary adrenal insufficiency (PAI) was introduced more than 60 years ago. Still, there are limited data on how MC substitution should be optimized, since MC dosing regimens have only been systematically investigated in a few studies. We review the management of current standard MC replacement therapy in PAI and its plausible impact on outcome. Evidence Acquisition: Using PubMed, we conducted a systematic review of the literature from 1939 to 2017, with the following keywords: 'adrenal insufficiency', 'mineralocorticoid deficiency', 'aldosterone', 'cardiovascular disease', 'hypertension', and 'heart failure'...
November 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#19
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29146725/rare-cause-of-adrenal-insufficiency
#20
Justin Ws Hii, Michael M Page, Andrew Wesseldine
A 72-year-old man presented with weight loss, night sweats and haemoptysis and was hypotensive. CT imaging showed rapidly enlarging bilateral adrenal masses, and he was found to have primary adrenal insufficiency. An adrenal gland biopsy revealed the rare diagnosis of primary adrenal lymphoma. This unique case highlights possible rare causes of adrenal masses and adrenal insufficiency, their investigation and management principles.
November 16, 2017: BMJ Case Reports
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