Congenital adrenal hyperplasia

The Lancet, Год журнала: 2022, Номер 401(10372), С. 227 - 244

Опубликована: Дек. 8, 2022

Язык: Английский

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Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance

Archives of Disease in Childhood, Год журнала: 2023, Номер 108(11), С. 871 - 878

Опубликована: Апрель 12, 2023

Adrenal insufficiency (AI) is characterised by lack of cortisol production from the adrenal glands. This can be a primary disorder or secondary to adrenocorticotropic hormone deficiency suppression exogenous glucocorticoids. Symptoms AI in children may initially non-specific and include growth faltering, lethargy, poor feeding, weight loss, abdominal pain, vomiting lingering illnesses. treated with replacement doses hydrocortisone. At times physiological stress such as illness, trauma surgery, there an increased requirement for glucocorticoids, which if untreated lead crisis death. There are no unified guidelines those <18 years old UK, leading substantial variation management AI. paper sets out guidance intercurrent medical, dental surgical procedures allow timely appropriate recognition treatment young people.

Язык: Английский

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3D printed, personalized sustained release cortisol for patients with adrenal insufficiency

International Journal of Pharmaceutics, Год журнала: 2022, Номер 630, С. 122466 - 122466

Опубликована: Дек. 6, 2022

The standard of care for patients with Adrenal Insufficiency (AI) is suboptimal. Administration hydrocortisone three times a day produces plasma cortisol fluctuations associated negative health outcomes. Furthermore, there high inter-individual variability in need, necessitating personalized approach. It hypothesized that personalized, sustained release formulation would enhance the pharmacotherapy by mimicking physiological concentration at higher level. Therefore, novel 24 h 3D printed (3DP) has been developed (M3DICORT) coupling hot-melt extrusion fused deposition modeling. A uniform drug distribution 3DP tablets demonstrated content 101.66 ± 1.60 % an acceptance value 4.01. had stable dissolution profile where intra-batch deviation was 2.8 and inter-batch 6.8 %. Tablet height were correlated (R2 = 0.996), providing tool easy dose personalization. Tablets maintained critical quality attributes, such as (f2 > 60) uniformity after process transfer from single-screw extruder to twin-screw extruder. Impurities observed final product which should be mitigated before clinical assessment. To our knowledge, M3DICORT first specifically AI.

Язык: Английский

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Novel agents to treat adrenal insufficiency: findings of preclinical and early clinical trials

Expert Opinion on Investigational Drugs, Год журнала: 2024, Номер 33(2), С. 115 - 126

Опубликована: Янв. 29, 2024

Adrenal insufficiency currently affects over 300/million population, with higher morbidity and mortality compared to the general population. Current glucocorticoid replacement therapy is limited by a lack of reliable biomarkers guide dosing, inter-patient variation in metabolism narrow therapeutic window. Increased may relate unappreciated under- or over-exposure glucocorticoids impaired cortisol circadian rhythm. New agents are required emulate physiological secretion individualize dosing.

Язык: Английский

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Outcome of COVID-19 infections in patients with adrenal insufficiency and excess

Endocrine Connections, Год журнала: 2023, Номер 12(4)

Опубликована: Янв. 30, 2023

Background Information on clinical outcomes of coronavirus disease 19 (COVID-19) infection in patients with adrenal disorders is scarce. Methods A collaboration between the European Society Endocrinology (ESE) Rare Disease Committee and Reference Network Endocrine Conditions via Registries for allowed collection data 64 cases (57 insufficiency (AI), 7 Cushing’s syndrome) that had been reported by 12 centres 8 countries January 2020 December 2021. Results Of all patients, 23 were males 41 females (13 those children) a median age 37 51 years. In 45/57 (95%) AI cases, COVID-19 was confirmed testing. Primary present patients; affected Addison’s disease, congenital hyperplasia primary (PAI) due to other causes. The most relevant comorbidities hypertension (12%), obesity ( n = 14%) diabetes mellitus (9%). An increase 2.0 (IQR 1.4) times daily replacement dose 42 (74%) patients. Two administered i.m. injection 100 mg hydrocortisone, 11/64 admitted hospital. be transferred intensive care unit, one fatal outcome. Four persistent SARS-CoV-2 infection, others complete remission. Conclusion This multicentre questionnaire first collect outcome gland disorders. It suggests good case duly adjustments emphasizes importance patient education sick day rules.

Язык: Английский

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Life-Threatening Endocrinological Immune-Related Adverse Events of Immune Checkpoint Inhibitor Therapy

Cancers, Год журнала: 2023, Номер 15(24), С. 5786 - 5786

Опубликована: Дек. 10, 2023

Malignant neoplasms are currently one of the leading causes morbidity and mortality worldwide, posing a major public health challenge. However, recent advances in research cancer biology immunity have led to development immunotherapy, which is now used on an everyday basis treatment addition surgical treatment, classical cytostatics, radiotherapy. The efficacy immunotherapy has promoted great popularity this among patients, as well significant interest. increasing number patients being treated with not only reassures physicians technique but also shows wide spectrum side effects therapy, been considered before. Immune-related adverse events may affect many systems organs, such digestive, cardiovascular, respiratory, skin, or endocrine organs. Most complications mild moderate course, there life-threatening manifestations that essential be aware because if they properly diagnosed time, can fatal consequences. purpose paper was present results literature review current state knowledge (such adrenal crisis, thyroid storm, myxoedema diabetic ketoacidosis, severe hypocalcaemia) immune checkpoint inhibitors provide information symptoms, diagnostics, management strategies.

Язык: Английский

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Frequency of stress dosing and adrenal crisis in paediatric and adult patients with congenital adrenal hyperplasia: a prospective study

European Journal of Endocrinology, Год журнала: 2024, Номер 190(4), С. 275 - 283

Опубликована: Март 30, 2024

Abstract Objective Patients with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement, including stress dosing (SD). This study prospectively assessed crisis (AC) incidence, frequency, and details of SD disease knowledge in adult paediatric patients their parents. Design Prospective, observational study. Methods Data on AC were collected via a patient diary. In case AC, medical records reviewed interviews conducted. Adherence to sick day rules the German Society Endocrinology (DGE) using version CAH assessment questionnaire (CAHKAQ) assessed. Results 187 patients, incidence was 8.4 per 100 years (py) 5.1 py 38 children. adults, 195.4 episodes recorded, children 169.7 py. 72.3% adults 34.8%, performed according recommendations. Children scored higher CAHKAQ than (18.0 [1.0] vs 16.0 [4.0]; P = .001). there positive correlation frequency (r .235, .011) score .233, .014), between .193, .026). Conclusion The are high. contrast cohort, majority not accordance DGE recommendations, underlining need for structured repeated education particular focus transition.

Язык: Английский

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Adrenal crises in adolescents and young adults

Endocrine, Год журнала: 2022, Номер 77(1), С. 1 - 10

Опубликована: Май 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.

Язык: Английский

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Adrenal insufficiency in severely wounded men with combat gunshot injury

INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (Ukraine), Год журнала: 2025, Номер 20(8), С. 573 - 579

Опубликована: Янв. 4, 2025

War destroys normal life and is the main factor of human psychological physical vulnerability. The stress war most powerful pathogenic in emergence, detection exacerbation somatic, mental behavioral disorders. Trauma can affect functioning hypothalamus pituitary gland, as well hypothalamic-pituitary-adrenal axis. One these strong types gunshot injury and, consequently, surgical intervention resulting metabo­lic physiological disturbances. During stress, an excessive amount cortisol produced, but when body exhausted, level this hormone decreases, then adrenal insufficiency occurs. article considered secondary that develop a result after combat trauma with massive blood loss, which be objectively characterized acute male combatants. It important to pay attention recognition early prevention hypoglycemia insufficiency. So, continuous glucose monitoring should used. Although test quite safe, it desirable have simpler diagnostic marker obtained without administration adrenocorticotropic hormone. also recommended study serum, deficiency sex hormones. Measurement dehydroepiandrosterone sulfate included laboratory assessment hypothalamic-­pituitary-adrenal axis function. Dynamic measurements proven increase accuracy diagnosing Thus, cause non-specific symptoms person who has stress. Early testing based on clinical suspicion prevent further development crisis.

Язык: Английский

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Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The Journal of Clinical Endocrinology & Metabolism, Год журнала: 2025, Номер 110(Supplement_1), С. S37 - S45

Опубликована: Янв. 21, 2025

Abstract Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition that results in cortisol and excess production of androgens. While the introduction newborn screening for CAH has reduced morbidity mortality, management remains challenging. Lifelong treatment with glucocorticoids required replace endogenous reduce Undertreatment or overtreatment can lead multiple disease- treatment-related comorbidities, including impaired growth compromised final height, menstrual irregularities fertility females, long-term cardiometabolic complications. In addition avoiding crisis sudden death, goals adolescent females are obtain normal bone maturation timing puberty. Management adolescents particularly challenging changes sex hormone levels inadequate suppression androgens increasing independence affect adherence. During transition adult care, focus on preventing symptoms hyperandrogenism, preserving regularity fertility, providing education support issues related sexuality, atypical genitalia, and/or complications from previous surgical treatment. addition, patients must be monitored continuously prevent such as decreased mineral density, obesity, diabetes, hypertension. this review, we discuss challenges faced by provide guidance health-care professionals help navigate these challenges.

Язык: Английский

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