18,210 results match your criteria adrenal insufficiency


Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency.

J Clin Endocrinol Metab 2022 Jan 13. Epub 2022 Jan 13.

Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.

Background: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology.

Objective: Investigation of the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. Read More

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January 2022

Sport-Related Concussion Preceding Adrenal Insufficiency and Hypopituitarism.

Curr Sports Med Rep 2022 Jan;21(1):15-17

Department of Neurosurgery, University of North Carolina, NC.

Abstract: A 49-year-old woman with a history of daily inhaled corticosteroid use for asthma presented to a concussion clinic 7 wk after sport-related head injury with headache, visual blurring, dizziness, nausea, fatigue, polydipsia, and polyuria. Examination revealed difficulty with vestibulo-occulomotor testing due to nausea and visual straining. Cranial CT/MR imaging was unremarkable. Read More

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January 2022

[Gene and cell therapy of adrenal pathology: achievements and prospects].

Probl Endokrinol (Mosk) 2021 Dec 2;67(6):80-89. Epub 2021 Dec 2.

Endocrinology Research Centre; Moscow Institute of Physics and Technology (National Research University).

Our current understanding of the molecular and cellular mechanisms in tissues and organs during normal and pathological conditions opens up substantial prospects for the development of novel approaches to treatment of various diseases. For instance, lifelong replacement therapy is no longer mandatory for the management of some monogenic hereditary diseases. Genome editing techniques that have emerged in the last decade are being actively investigated as tools for correcting mutations in affected organs. Read More

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December 2021

Secondary adrenal suppression related to high doses of inhaled corticosteroids in severe asthma patients.

Ann Allergy Asthma Immunol 2022 Jan 7. Epub 2022 Jan 7.

Allergy and Clinical Immunology Department of Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central (CHULC) EPE, Lisbon, Portugal; NOVA Medical School - Comprehensive Health Research Center (CHRC), Lisbon, Portugal.

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January 2022

Frequently Asked Questions in Patients With Adrenal Insufficiency in the Time of COVID-19.

Front Endocrinol (Lausanne) 2021 24;12:805647. Epub 2021 Dec 24.

Endocrine Disease Unit, University-Hospital of Padova, Padova, Italy.

Adrenal insufficiency (AI) is a life-threatening disorder, with increased morbidity and mortality, especially in case of an acute illness that can increase the requirement of cortisol. A novel infectious disease, termed Coronavirus Disease 2019 (COVID-19), appeared in 2020. Therefore, AI patients are experiencing a novel challenge: the risk of infection. Read More

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January 2022

Is treated hypopituitarism associated with increased left ventricular strains?-detailed analysis from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.

Quant Imaging Med Surg 2022 Jan;12(1):838-845

Department of Medicine, Faculty of Medicine, Albert Szent-Györgyi Clinical Center, University of Szeged, Szeged, Hungary.

Reduced secretion of one or more of the hormones normally produced by the pituitary gland is called hypopituitarism, which is a rare and frequently underdiagnosed condition. Hypopituitarism can be present at birth called congenital or may develop due to acquired causes like tumor, infection, infiltration, vascular or other causes. Symptoms of hypopituitarism are highly dependent on which hormones are insufficient. Read More

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January 2022

Prader-Willi syndrome: an update on obesity and endocrine problems.

Ann Pediatr Endocrinol Metab 2021 Dec 31;26(4):227-236. Epub 2021 Dec 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Prader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is characterized by hypotonia and feeding difficulty in early infancy and development of morbid obesity aggravated by uncontrolled hyperphagia after childhood and adolescent. Dysmorphic facial features, delayed motor and language development, various degrees of cognitive impairment, and behavioral problems are common in PWS. Read More

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December 2021

Bilateral Neonatal Adrenal Hemorrhage Associated With Severe Maternal COVID-19 Infection.

Cureus 2021 Nov 29;13(11):e20007. Epub 2021 Nov 29.

Pediatric Nephrology, Weill Cornell Medicine, New York, USA.

Adrenal hemorrhage is the most common cause of adrenal mass in newborns. We present a case of a full-term male, born by cesarean section due to acute fetal distress from a mother with severe coronavirus disease 2019 (COVID-19) infection. He was diagnosed with hypoxic-ischemic encephalopathy, multifactorial shock, and early neonatal sepsis. Read More

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November 2021

Disorders of Sex Development of Adrenal Origin.

Front Endocrinol (Lausanne) 2021 20;12:770782. Epub 2021 Dec 20.

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia. Congenital disorders affecting adrenal function may be associated with DSD in both 46,XX and 46,XY individuals, but the pathogenic mechanisms differ. While in 46,XX cases, the adrenal steroidogenic disorder is responsible for the genital anomalies, in 46,XY patients DSD results from the associated testicular dysfunction. Read More

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December 2021

Successful Pregnancy Outcome in a Lady with Polyglandular Autoimmune Syndrome Type II.

J Coll Physicians Surg Pak 2022 Jan;32(1):102-104

Department of Obstetrics and Gynaecology, Wrexham Maelar Hospital, Betsi Cadwaladr University Health Board, North Wales, United Kingdom.

We report a case of a lady who had polyglandular autoimmune syndrome type II (hypothyroidism, Addison's disease, vitiligo), who completed a successful pregnancy. Addison's disease (AD) was confirmed by the presence of anti-adrenal antibodies and hyponatremia. The patient had pre-pregnancy counselling about the need of antepartum, intrapartum and postpartum steroids. Read More

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January 2022

Low-dose corticosteroid therapy for cardiogenic shock in adults (COCCA): study protocol for a randomized controlled trial.

Trials 2022 Jan 3;23(1). Epub 2022 Jan 3.

CMC Ambroise Paré, département de recherche clinique, Neuilly-sur-Seine, France.

Background: Cardiogenic shock (CS) is a life-threatening condition characterized by circulatory insufficiency caused by an acute dysfunction of the heart pump. The pathophysiological approach to CS has recently been enriched by the tissue consequences of low flow, including inflammation, endothelial dysfunction, and alteration of the hypothalamic-pituitary-adrenal axis. The aim of the present trial is to evaluate the impact of early low-dose corticosteroid therapy on shock reversal in adults with CS. Read More

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January 2022

Risk assessment, diagnosis, and treatment of cancer treatment-related adrenal insufficiency.

Expert Rev Endocrinol Metab 2022 Jan 3:1-13. Epub 2022 Jan 3.

Royal Adelaide Hospital, Endocrine and Metabolic Unit Adelaide, Adelaide, Australia.

Introduction: Adrenal insufficiency (AI) is an easily treatable, potentially life-threatening condition, which is increasingly recognized in malignancy. The recent introduction of immune checkpoint inhibitors, in particular, and increasing use of tyrosine kinase inhibitors have increased the frequency of AI in patients with malignancy. A review is therefore warranted to summarize current knowledge on the topic and guide safe clinical practices. Read More

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January 2022

Immune Checkpoint Inhibitors Combined With Chemotherapy Compared With Chemotherapy Alone for Triple-Negative Breast Cancer: A Systematic Review and Meta-Analysis.

Front Oncol 2021 16;11:795650. Epub 2021 Dec 16.

Department of Thoracic Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, China.

Background: It is still controversial whether immune checkpoint inhibitors (ICIs) can improve the curative effect when added to original standard chemotherapy treatment for triple-negative breast cancer (TNBC). We compared their antitumor efficacy and adverse effects (AEs) to make a better clinical decision.

Methods: Seven databases were searched for eligible articles. Read More

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December 2021

Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with Deficiency.

Case Rep Endocrinol 2021 23;2021:5889007. Epub 2021 Dec 23.

Hôpital d'Instruction des Armées BEGIN, Service d'endocrinologie, 69 avenue de Paris, Saint-Mande 94160, France.

Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for malignancy. These lesions were finally identified as benign testicle adrenal rest tumors (TARTs), and the patient was actually belatedly diagnosed with primary adrenal insufficiency due to 2 mutations of the gene encoding the cholesterol side-chain cleavage enzyme (P450scc); the mutations were 940G > A (p. Read More

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December 2021

Addison's Disease Presenting as Acute Renal Failure and Hyperkalemic Paralysis: A Rare Presentation.

Case Rep Endocrinol 2021 22;2021:3103011. Epub 2021 Dec 22.

Division of Nephrology and Hypertension, Maimonides Medical Center, Brooklyn, NY 11219, USA.

Hyperkalemic paralysis in the setting of acute renal failure can lead to a missed or delayed diagnosis of adrenal insufficiency as the raised potassium can be attributed to the renal failure. Acute kidney injury as the presenting manifestation in an adrenal crisis due to Addison's disease has been rarely reported in the literature. Here, we present the case of a young 37-year-old male who came with hyperkalemic paralysis and acute renal failure needing emergent hemodialysis. Read More

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December 2021

Immune checkpoint inhibitor-induced hypophysitis: lessons learnt from a large cancer cohort.

J Investig Med 2021 Dec 29. Epub 2021 Dec 29.

Division of Endocrinology, Diabetes, Metabolism, and Nutrition; Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA

Immune checkpoint inhibitors (ICIs) can cause pituitary dysfunction due to hypophysitis. We aimed to characterize ICI-induced hypophysitis and examine its association with overall survival in this single-center retrospective cohort study of adult patients with cancer who received an ICI from January 1, 2012 through December 31, 2016. A total of 896 patients were identified who received ipilimumab alone (n=120); ipilimumab and nivolumab (n=50); ipilimumab before or after pembrolizumab (n=70); pembrolizumab alone (n=406); and nivolumab alone (n=250). Read More

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December 2021

Sodium and water perturbations in patients who had an acute stroke: clinical relevance and management strategies for the neurologist.

Stroke Vasc Neurol 2021 Dec 30. Epub 2021 Dec 30.

University of Arizona College of Medicine and Creighton School of Medicine, Phoenix, Arizona, USA.

Sodium and water perturbations, manifesting as hyponatraemia and hypernatraemia, are common in patients who had an acute stroke, and are associated with worse outcomes and increased mortality. Other non-stroke-related causes of sodium and water perturbations in these patients include underlying comorbidities and concomitant medications. Additionally, hospitalised patients who had an acute stroke may receive excessive intravenous hypotonic solutions, have poor fluid intake due to impaired neurocognition and consciousness, may develop sepsis or are administered drugs (eg, mannitol); factors that can further alter serum sodium levels. Read More

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December 2021

Allgrove syndrome with amyotrophy.

Pract Neurol 2021 Dec 30. Epub 2021 Dec 30.

Neurology Department, Hospital das Clínicas de Pernambuco, Recife, Brazil.

Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically develops during the first decade of life, but some cases have second and third decades onset. Read More

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December 2021

[Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Jan;39(1):60-63

Department of Neurology, Huizhou First People's Hospital, Huizhou, Guangdong 516003, China.

Objective: To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy.

Methods: Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals. Read More

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January 2022

A Rare Case of Adenosine Deaminase tRNA-Specific 3 Mutation, Adrenal Insufficiency, and Rhabdomyolysis.

Cureus 2021 Nov 23;13(11):e19833. Epub 2021 Nov 23.

College of Medicine, Alfaisal University, Riyadh, SAU.

Adenosine deaminase t-RNA-specific 3 (ADAT3) gene, present on chromosome 19, encodes for an enzyme responsible for deamination of adenosine to inosine. Individuals with ADAT3 mutation display microcephaly, dysmorphic features, neurological, behavioural, and endocrinal pathologies. ADAT3 mutation is a recognized cause of intellectual disability (ID) in Saudi Arabia, particularly amongst consanguineous families. Read More

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November 2021

[Acute adrenal insufficiency in a patient with panhypopituitarism after vaccination against Covid 19 (BNT162b2 Pfizer-Biontech)].

Endocrinol Diabetes Nutr 2021 Dec 18. Epub 2021 Dec 18.

Facultativo del Área Especializada de Endocrinología. Hº Universitario de Cabueñes Los Prados, 395, 33394 Gijón, Asturias, Spain.

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December 2021

Pembrolizumab-Induced Adrenal Insufficiency in Patients with Untreated Advanced Non-Small Cell Lung Cancer: A Case Series.

Case Rep Oncol 2021 Sep-Dec;14(3):1561-1566. Epub 2021 Nov 5.

First Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.

Pembrolizumab-induced adrenal insufficiency (AI) is recognized as a rare immune-related adverse event (irAE) that can be fatal if diagnosis is delayed. Clinical features of AI in patients with advanced non-small cell lung cancer (NSCLC) who received pembrolizumab as the first-line treatment were observed. Five out of 49 patients with untreated advanced NSCLC developed AI between April 2017 and February 2021. Read More

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November 2021

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.

Cells 2021 12 6;10(12). Epub 2021 Dec 6.

Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease caused by mutations in the gene and the accumulation of very long-chain fatty acids in plasma and tissues. Patients present with heterogeneous clinical manifestations which can include adrenal insufficiency, myelopathy, and/or cerebral demyelination. In the absence of a genotype-phenotype correlation, the clinical outcome of an individual cannot be predicted and currently there are no molecular markers available to quantify disease severity. Read More

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December 2021

Prevalence and Risk Factors for Adrenal Insufficiency in Patients with Multiple Myeloma Receiving Long-Term Chemotherapy including Corticosteroids: A Retrospective Cohort Study.

Biomed Res Int 2021 13;2021:2330417. Epub 2021 Dec 13.

Department of Internal Medicine, Chonnam National University Hwasun Hospital, 322 Seoyang-ro, Hwasun, Jeollanam-do 519-763, Republic of Korea.

Multiple myeloma (MM) is the second most common hematologic malignancy and requires long-term and high-dose corticosteroid-based chemotherapy. The aim of this study was to investigate the prevalence and clinical predictors of corticosteroid-associated adrenal insufficiency (AI) in patients with MM receiving long-term chemotherapy. This retrospective study included patients with MM who were administered corticosteroid-based chemotherapy and underwent a rapid adrenocorticotropic hormone (ACTH) stimulation test between 2005 and 2018. Read More

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December 2021

Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1.

Case Rep Endocrinol 2021 13;2021:6009141. Epub 2021 Dec 13.

Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas, MO 64111, USA.

Autoimmune polyglandular syndrome type 1 (APS1) is a progressive life-threatening illness with no known cure. Current treatments involve replacement of the hormone deficiencies that result from autoimmune destruction of multiple endocrine organs. We report on a girl whose disease was progressing rapidly until she began on immunosuppressive agents. Read More

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December 2021

An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in .

Int J Endocrinol 2021 13;2021:4367028. Epub 2021 Dec 13.

Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

X-linked congenital adrenal hypoplasia due to mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high level of testosterone. Clinical evaluations and pedigree drawing were performed. Read More

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December 2021

Adrenal Insufficiency at the Time of COVID-19: A Retrospective Study in Patients Referring to a Tertiary Center.

J Clin Endocrinol Metab 2021 03;106(3):e1354-e1361

Endocrinology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

Context: Coronavirus disease 2019 (COVID-19) represents a global health emergency, and infected patients with chronic diseases often present with a severe impairment. Adrenal insufficiency (AI) is supposed to be associated with an increased infection risk, which could trigger an adrenal crisis.

Objective: Our primary aim was to evaluate the incidence of COVID-19 symptoms and complications in AI patients. Read More

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