Primary Adrenal Insufficiency in Children: Diagnosis and Management

Publication date: Available online 6 June 2018 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Tarik Kirkgoz, Tulay Guran Primary adrenal insufficiency (PAI) is a life-threatening disorder of adrenal cortex which is characterized by deficient biosynthesis of glucocorticoids, with or without deficiency in mineralocorticoids and adrenal androgens. Typical manifestations of primary adrenal insufficiency include hyperpigmentation, hypotension, hypoglycaemia, hyponatremia with or without hyperkalemia that are generally preceded by nonspecific symptoms at the onset. Recessively inherited monogenic disorders constitute the largest group of primary adrenal insufficiency in children. The diagnostic process of primary adrenal insufficiency includes demonstration of low cortisol concentrations along with high plasma ACTH and identifying the cause of the disorder. Specific molecular diagnosis is achieved in more than 80% of children with PAI by detailed clinical and biochemical characterization integrated with advanced molecular tools. Hormone replacement therapy determined on the type and the severity of deficient adrenocortical hormones is the mainstay of treatment. Optimized methods of steroid hormone delivery, improved monitoring of hormone replacement along with intensive education of patients and families on the rules during intercurrent illness and stress will significantly reduce the morbidity and mortality associated with primary adrenal i...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - Category: Endocrinology Source Type: research

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ConclusionsThis is the first report describing objective clinical and radiographic responses following immunotherapy for widely metastatic sebaceous carcinoma. The dramatic therapeutic response to pembrolizumab was associated with peripheral blood circulating memory T cells and mature Natural Killer cells after 6  months (24 weeks) of therapy. This report supports prospective clinical trials of anti-PD1 checkpoint blockade for metastatic sebaceous carcinoma.
Source: Journal for Immunotherapy of Cancer - Category: Cancer & Oncology Source Type: research
Authors: Hardy RS, Zhou H, Seibel MJ, Cooper MS Abstract Osteoporosis associated with long-term glucocorticoid therapy remains a common and serious bone disease. In addition, in recent years it has become clear that more subtle states of endogenous glucocorticoid excess may have a major impact on bone health. Adverse effects can be seen with mild systemic glucocorticoid excess but there is also evidence of tissue-specific regulation of glucocorticoid action within bone as a mechanism of disease. This review article will examine a) the role of endogenous glucocorticoids in normal bone physiology, b) the skeletal eff...
Source: Endocrine Reviews - Category: Endocrinology Tags: Endocr Rev Source Type: research
Authors: Ueland GA, Husebye ES Abstract Pharmacological glucocorticoid treatment is associated with adverse metabolic consequences such as hypertension, overweight, reduced glucose tolerance, diabetes mellitus and ultimately increased mortality in cardiovascular disease. Here we review the evidence of detrimental effects of hormone replacement therapy in adrenal insufficiency (AI). Registry studies indicate increased cardiovascular mortality, hypertension, diabetes, and dyslipidemia in both primary and secondary AI, but when cohorts with carefully characterized patients are studied the picture is less clear, and re...
Source: Frontiers of Hormone Research - Category: Endocrinology Tags: Front Horm Res Source Type: research
Conclusion: There is a low rate of reversible HPA axis suppression with the use of mid- to low-potency TCS compared to more potent formulations. In pediatric clinical practice, the limited use of mid- to low-potency TCS is rarely associated with clinically significant adrenal insufficiency or adrenal crisis. In the absence of signs and symptoms of adrenal insufficiency, there is little need to test the HPA axis of these patients.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
Diagnosing and delineating the thresholds for “adrenal insufficiency” in critical illness is still the subject of many manuscripts, hours of conference time and the subject of “position statements” [1]. This is because the existence of the disorder, how to diagnose it (if it exists) and how to treat it are still controversial. The funda mental problem in moving towards answering these questions is that we still do not have an accurate model for HPA axis function in critical illness. The linked paper by Mongardon and colleagues[2] adds another small piece to the jigsaw, but in the process, it illustr...
Source: Resuscitation - Category: Emergency Medicine Authors: Tags: Editorial Source Type: research
ConclusionThe current use of perioperative corticosteroid supplementation to prevent adrenal insufficiency is not supported by evidence. Given the significant studies ’ limitations, it is not possible to conclude that perioperative administration of corticosteroids, compared to placebo, reduces the incidence of adrenal insufficiency.
Source: Perioperative Medicine - Category: Surgery Source Type: research
Clinical Endocrinology, EarlyView.
Source: Clinical Endocrinology - Category: Endocrinology Authors: Source Type: research
MS PMID: 29881868 [PubMed - in process]
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
Authors: Antoniou N, Karanastasis D Abstract Two cases are reported of patients with a single metastasis in the contralateral adrenal, one and nine years respectively after nephrectomy for localized cancer in the opposite kidney. These types of metastases are usually asymptomatic they do not appear with signs of adrenal insufficiency, they are detected incidentally and the diagnosis is confirmed mainly with CT scan, which comprises the method of choice for the detection of such types of metastases. Many adrenal metastases probably have been overlooked in the past when advanced imaging techniques were not available....
Source: The Scientific World Journal - Category: Science Tags: ScientificWorldJournal Source Type: research
Muscular symptoms, including stiffness, myalgia, cramps, and fatigue, are present in the majority of the patients with hypopituitarism, adrenal insufficiency and hypothyroidism, but rhabdomyolysis, the rapid breakdown of skeletal muscle, is a rare manifestation. In most patients who develop rhabdomyolysis, precipitating factors, such as strenuous exercise or use of lipid-lowering drugs, can be identified.
Source: The American Journal of Emergency Medicine - Category: Emergency Medicine Authors: Source Type: research
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