Patient and caregiver experiences with hydrocortisone injections in adrenal crisis: a mixed-methods cross-sectional study

Frontiers in Endocrinology, Journal Year: 2025, Volume and Issue: 16

Published: April 22, 2025

Adrenal crisis is the leading cause of death in patients with adrenal insufficiency, and prevention requires immediate parenteral hydrocortisone administration. However, most do not receive their home emergency injection. Our study aimed to investigate barriers enablers using injections managing crises. This mixed-methods observational utilized an online survey distributed through two U.S.-based patient advocacy groups. A total 688 respondents completed survey, including 485 (70%) parents/caregivers individuals insufficiency 203 (30%) adults insufficiency. Qualitative free-text responses were analyzed thematic content analysis, subsequent quantification identified administering during Over 60% had required for crisis, yet fewer than 20% managed self-inject. Thirteen nine across three domains: device factors, external emotional factors. Key included complexity multi-step injection process (81%), injection-related anxiety lack confidence (18%), challenges accessing correct formulation or equipment (38%), inadequate support crises (29%). effectiveness (14%), convenience combined powder-and-diluent vial (36%), education (4%). Notably, 97% participants expressed a preference autoinjector enhance self-injection capabilities. Effective management comprehensive, evidence-based interventions patient, healthcare, societal levels. should include development user-friendly delivery devices, individualized education, healthcare system reforms, public awareness.

Language: Английский

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Praktisches Management des Adrenogenitalen Syndroms

Deleted Journal, Journal Year: 2025, Volume and Issue: unknown

Published: May 9, 2025

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Adrenal crises in adolescents and young adults

Endocrine, Journal Year: 2022, Volume and Issue: 77(1), P. 1 - 10

Published: May 18, 2022

Abstract Purpose Review the literature concerning adrenal insufficiency (AI) and crisis (AC) in adolescents young adults. Methods Searches of PubMed identifying relevant reports up to March 2022. Results AI is rare disorder that requires lifelong glucocorticoid replacement therapy associated with substantial morbidity occasional mortality among Aetiologies this age group are more commonly congenital, acquired causes, resulting from tumours hypothalamic-pituitary area autoimmune adrenalitis others, increasing age. All patients at risk AC, which have an estimated incidence 6 8 ACs/100 patient years. Prevention ACs includes use educational interventions achieve competency dose escalation parenteral administration during times physiological stress, such as intercurrent infection. While AI/AC children adults has been documented, there few studies focussed on AC occurrence AI. This despite range developmental, psychosocial, structural changes can interfere chronic disease management important period growth development. Conclusion In review, we examine current state knowledge epidemiology emerging adults; causes group; suggest areas for further investigation aimed reducing health impact these patients.

Language: Английский

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Congenital adrenal hyperplasia in patients with adrenal tumors: a population-based case–control study

Journal of Endocrinological Investigation, Journal Year: 2022, Volume and Issue: 46(3), P. 559 - 565

Published: Oct. 21, 2022

Congenital adrenal hyperplasia (CAH) has been associated with tumors (ATs) but the relationship is still unclear. The aim was to investigate if CAH more common in patients and their characteristics.Using national registers all an AT diagnosis (cases) selected matched controls without were included from 1st January 2005 31st December 2019. a scrutinized detail.ATs diagnosed 26,573 individuals none of 144,124 controls. In 20 ATs 1 control, present. odds for having 109 (95% CI 15-809; P < 0.0001). Among cases, 5 had before discovery 15 afterwards. Half females two screened neonatally. mean age when discovered 55.6 years. Adrenalectomy performed seven patients. Five unilateral adrenalectomy did not have any glucocorticoid protection. After diagnosis, initiated on glucocorticoids 6 mineralocorticoids. majority index date classic CAH. individual after date, only three rest nonclassical During follow-up time 9 years, six deceased, them crisis.The prevalence greater than without. ATs, should be considered.

Language: Английский

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Tuberculosis of Adrenal Glands—A Population-based Case-control Study

Journal of the Endocrine Society, Journal Year: 2023, Volume and Issue: 7(5)

Published: March 6, 2023

Abstract Purpose Adrenal tuberculosis (ATB) can cause primary adrenal insufficiency (PAI) or may be misdiagnosed as nonfunctional tumors (NFATs) in patients with tuberculosis. Very little is known about its epidemiology a modern, high-income setting. The aim was to investigate involvement and associated mortality Methods By using national registers, lesions were compared controls without tumors. To analyze individuals ATB possible affection (ie, NFAT), subgroup of selected. study population included from 2005 2019 followed until death 2020. In adjustments made for age sex. Results Eight ATB, 23 232 NFAT, 144 124 included. Among those we found 34 NFAT. controls, 129 diagnosed identified. risk having an tumor increased (odds ratio, 1.64; 95% CI, 1.12-2.39). Of 7 (88%) had PAI. One patient (3%) NFAT 1 (0.8%) control Compared tuberculosis, (hazard 5.4; 2.2-13.2; adjusted hazard 6.2; 2.5-15.6), (1.3; 0.6-2.7; 2.3; 1.1-5.1). PAI contributing factor 4/6 (67%) deaths ATB. Conclusions Tuberculosis extremely rare. Most increased.

Language: Английский

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Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia

Archives of Endocrinology and Metabolism, Journal Year: 2021, Volume and Issue: unknown

Published: July 16, 2021

Primary adrenal insufficiency (PAI) is characterized by the inability of cortex to produce sufficient amounts glucocorticoids and/or mineralocorticoids. Addison's disease (AD) and congenital hyperplasia (CAH) are most frequent disorders in adults children, respectively. Despite diagnostic advances availability glucocorticoid mineralocorticoid replacements, crisis (AC) still a potentially lethal condition contributing increased mortality, not only during first year life, but also throughout life. Failure increasing doses acute stress, when greater required, can lead AC an increase morbimortality rate PAI. Considering mortality 0.5 per 100 patient years, up 1,500 deaths from expected Brazil coming decade, which represents alarming situation. The major clinical features hypotension volume depletion. Nonspecific symptoms such as fatigue, lack energy, anorexia, nausea, vomiting, abdominal pain common. main precipitating factors gastrointestinal diseases, other infectious disease, stressful events (e.g., pain, surgery, strenuous physical activity, heat, pregnancy), withdrawal therapy. Suspected requires immediate therapeutic action with intravenous (iv) hydrocortisone, fluid infusion, monitoring support, antibiotics if necessary. best prevented through education, precocious identification adjusting dosage stressor situations. emergency card, warning about replacement, has high value reducing morbidity AC.

Language: Английский

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Clinical Unmet Needs in the Treatment of Adrenal Crisis: Importance of the Patient’s Perspective

Frontiers in Endocrinology, Journal Year: 2021, Volume and Issue: 12

Published: July 20, 2021

Adrenal crisis is the most severe manifestation of adrenal insufficiency (AI), but AI can present with variable signs and symptoms gradual severity. Despite current hormone replacement strategies, still one leading causes mortality in patients. Although underlying factors explaining differences interindividual susceptibility are not completely understood, several subgroups particularly vulnerable to crises, such as patients primary AI, treated for Cushing's syndrome. Currently, health care professional faces challenges patients, including lack reliable biomarkers measuring tissue cortisol concentrations, absence a universally used definition crisis, clinical tools identify individual at increased risk. Also from patient's perspective, there number steps be taken order increase evaluate self-management skills and, finally, improve health-related quality life (HR-QoL). In this respect, fact that inadequate handling during stressful situations direct consequence remembering how act due weakness cognitive dysfunction context quite underexposed. narrative review, we give an overview different aspects discuss unmet needs management both doctor's perspective. For latter, use original focus group data. Integration perspectives key successful improvement HR-QoL AI.

Language: Английский

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New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

Diagnostics, Journal Year: 2022, Volume and Issue: 12(9), P. 2080 - 2080

Published: Aug. 28, 2022

This review highlights oral anomalies with major clinical impact in Addison disease (AD), including dental health and dermatologic features, through a dual perspective: pigmentation issues AD comorbidities manifestations. Affecting 92% of patients, cutaneomucosal hyperpigmentation is synchronous or precedes general manifestations by up to decade, underlying melanocytic infiltration the basal epidermal layer; melanophages superficial dermis; and, rarely, acanthosis, perivascular lymphocytic infiltrate, hyperkeratosis. Intraoral might be only sign AD; thus, early recognition mandatory, biopsy helpful selected cases. The buccal area most affected location; other sites are palatine arches, lips, gums, tongue. Pigmented lesions patchy diffuse; mostly asymptomatic; occasionally accompanied pain, itchiness, burn-like lesions. lingual patches isolated multiple, located on dorsal lateral areas; fungiform pigmented papillae also reported individuals. Dermoscopy examination particularly indicated for fungal etiology; yet, it not routinely performed. AD’s comorbidity burden includes cluster autoimmune polyglandular syndrome (APS) type 1 AIRE gene malfunction. Chronic candidiasis (CMC), CMC, represents first APS1 70–80% cases, displaying autoantibodies against interleukin (IL)-17A, IL-17F ± IL-22, probably high mucosal concentration interferon (IFN)-γ. CMC prone systemic candidiasis, representing procarcinogenic status due Th17 cell anomalies. In APS1, cause mortality infections (24%), followed esophageal cancers (15%). Autoimmune hypoparathyroidism (HyP) earliest endocrine element APS1; combination age 5 years enamel hypoplasia (the frequent complication pediatric HyP) 15 an indication HyP assessment. Children experience short roots, opacities, hypodontia, eruption dysfunctions. Copresence APS-related diabetes mellitus (DM) enhances risk as well periodontal (PD). Anemia-related pallor related DM, hypothyroidism, hypogonadism, corresponding gastroenterological diseases (Crohn’s presents ulceration (OU), mucogingivitis, 2–3 times higher PD; Biermer anemia itself), rheumatologic (lupus induces OU, honeycomb plaques, keratotic angular cheilitis, petechial lesions, PD). more than half associated vitiligo involves depigmentation mucosa at different levels (palatal, gingival, alveolar, mucosa, lips). Celiac may manifest xerostomia, dry sialadenitis, recurrent aphthous stomatitis defects children, prevalence caries dentin sensitivity, gingival bleeding. Oral provide useful index suspicion apparently healthy individuals, thus adrenocorticotropic hormone (ACTH) stimulation useful. spectrum massively complicates overall picture

Language: Английский

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Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

Genes, Journal Year: 2022, Volume and Issue: 13(5), P. 717 - 717

Published: April 20, 2022

Nicotinamide nucleotide transhydrogenase (NNT) deficiency causes primary adrenal insufficiency (PAI) and possibly some extra-adrenal manifestations. A limited number of these patients were previously described. We present the clinical genetic characteristics three family members with a biallelic novel pathogenic variant in NNT gene. The followed until ages 21.6, 20.2, 4.2 years. PAI was diagnosed eldest two brothers after an Addisonian crisis third at age 4.5 months asymptomatic stage due to screening members. Whole exome sequencing targeted interpretation variants genes related performed all patients. urinary steroid metabolome determined by gas chromatography–mass spectrometry patient. patients, who homozygous for c.1575dup gene, developed isolated glucocorticoid deficiency. showed normal excretion cortisol metabolites. adolescent had slow pubertal progression low–normal testicular volume, while endocrine function normal. Bone mineral density range osteopenia both grown-up siblings. Echocardiography revealed no structural or functional heart abnormalities. This article is among first comprehensive chronologically-detailed description

Language: Английский

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Major immunophenotypic abnormalities in patients with primary adrenal insufficiency of different etiology

Frontiers in Immunology, Journal Year: 2023, Volume and Issue: 14

Published: Nov. 15, 2023

Introduction Patients with primary adrenal insufficiency (PAI) suffer from increased risk of infection, crises and have a higher mortality rate. Such dismal outcomes been inferred to immune cell dysregulation because unphysiological cortisol replacement. As the landscape patients different types PAI has not systematically explored, we set out immunophenotype causes glucocorticoid (GC) deficiency. Methods This cross-sectional single center study includes 28 congenital hyperplasia (CAH), 27 after bilateral adrenalectomy due Cushing’s syndrome (BADx), 21 Addison’s disease (AD) 52 healthy controls. All were on stable GC replacement regimen median dose 25 mg hydrocortisone per day. Peripheral blood mononuclear cells isolated heparinized samples. Immune subsets analyzed using multicolor flow cytometry four-hour stimulation phorbol myristate acetate ionomycin. Natural killer (NK-) cytotoxicity clock gene expression investigated. Results The percentage T helper was downregulated in AD (Th1 p = 0.0024, Th2 0.0157, Th17 &lt; 0.0001) compared Cytotoxic reduced (Tc1 0.0075, Tc2 0.0154) CAH 0.0055, 0.0012) NKCC all patients, smallest changes CAH. Degranulation marker CD107a upregulated BADx AD, controls (BADx 0.0001; 0.0002). In contrast NK activating receptors, inhibiting receptor CD94 but (p 0.0001). Although modulation could be confirmed our patient subgroups, major interindividual-intergroup dissimilarities detected. Discussion etiologies PAI, distinct differences cell-phenotypes became apparent despite use same preparation dose. Our results highlight unsuspected composition function suggest disease-specific alterations that might necessitate treatment.

Language: Английский

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