adrenal insufficiency guidelines

BACKGROUND: Recent guidelines suggest that NCCAH subjects stop their glucocorticoid therapy after achieving adult height. However, these guidelines do not differentiate between genotype groups within the NCCAH population. AIM: Compare ACTH stimulated cortisol and 17-hydroxyprogesterone (17OHP) levels, and the rate of partial cortisol insufficiency in NCCAH subjects carrying one mild and one severe (mild/severe) mutation vs. subjects with bi-allelic mild (mild/mild) mutations...

OBJECTIVE: The optimal corticosteroid treatment regimen for subacute thyroiditis has not yet been established. To avoid side-effects, tapering of the initial dose of corticosteroid is recommended. With reducing dose, the symptoms can recur. DESIGN: In a prospective clinical study, a 30-day methylprednisolone (MPSL) treatment protocol with a starting dose of 24 mg/day and tapered by 4 mg every 5 days was assessed for effectiveness and safety regarding possible adrenal insufficiency...

Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochrome P450 and some non-P450 enzymes involved in cholesterol, sterol, and drug metabolism. With the advancement of molecular biology and medical genetics, increasing numbers of PORD cases were reported, and the clinical spectrum of PORD was extended with studies on underlying mechanisms of phenotype-genotype correlations and optimum treatment...

Polyglandular autoimmune syndrome (PAS) is a rare disorder characterized by the autoimmune destruction of multiple endocrine glands. Type II PAS is the most common of the PAS subtypes and is characterized by Addison's disease, autoimmune thyroid disease, and type I diabetes mellitus. Disease manifestations are predominantly seen in young adulthood with an emerging endocrine disorder; however, a host of other autoimmune conditions can also be present before endocrine organ dysfunction. Due to the complex nature of presentation and management, an important consideration in patient care involves a multidisciplinary team with the addition of an endocrinologist...

Dietary supplement use is common in the United States. Supplements are regulated by the US Food and Drug Administration (FDA) under a separate set of guidelines from typical food and drug products. This case report describes a patient who presented to the emergency department (ED) with abdominal pain, vomiting, and generalized weakness. On detailed history, we learned that he had been taking a supplement called Artri Ajo King for 18 months, followed by recent abrupt cessation before his ED presentation. He was subsequently found to have a low serum cortisol level and was diagnosed with secondary adrenal insufficiency by a cosyntropin stimulation test...

Systemic corticosteroids (CSs), a keystone in pulmonology, are drugs with strong antiinflammatory activity. They are cheap, easily available, and accessible, but with common and serious side effects. Moreover, the use of exogenous CSs may suppress the hypothalamic-pituitary-adrenal (HPA) axis, predisposing to adrenal insufficiency. Safe CS treatment is a challenge of pharmacological research. This narrative review examined the indications of CSs in some respiratory diseases, analyzing what types, dosages, and length of treatment are required as the dosage and duration of CS treatments need to be minimized...

The onset of regular, strong, and progressive uterine contractions may result in both mechanical (compression of the fetal head and/or umbilical cord) and hypoxic (repetitive and sustained compression of the umbilical cord or reduction in uteroplacental oxygenation) stresses to a human fetus. Most fetuses are able to mount effective compensatory responses to avoid hypoxic-ischemic encephalopathy and perinatal death secondary to the onset of anaerobic metabolism within the myocardium, culminating in myocardial lactic acidosis...

SUMMARY: Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging from mild to severe is seen, including adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus and infertility. We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene...

BACKGROUND: Immune checkpoint inhibitors have shown promising efficacy in multiple malignancies and, therefore, have been increasingly used over the past decade. Clinical data have suggested anti-cancer efficacy associated with immune-related adverse events that could have added healthcare resource utilization and costs. OBJECTIVE: We used a nationwide dataset to investigate the association between immune-related adverse events and healthcare resource utilization, charges, and mortality among patients receiving various immune checkpoint inhibitors for indicated cancers...

OBJECTIVE: Brain tumors in childhood carry a high risk for endocrine disorders due to the direct effects of the tumor and/or surgery and radiotherapy. Somatotropes are vulnerable to pressure and radiotherapy; therefore, growth hormone deficiency is one of the most frequent abnormalities. This study aimed to evaluate endocrine disorders and recombinant growth hormone treatment outcomes in brain tumor survivors. MATERIALS AND METHODS: In this study, 65 (27 female) patients were classified into 3 groups as craniopharyngioma (n = 29), medulloblastoma (n = 17), and others (n = 19)...

Adrenal insufficiency (AI) is characterised by lack of cortisol production from the adrenal glands. This can be a primary adrenal disorder or secondary to adrenocorticotropic hormone deficiency or suppression from exogenous glucocorticoids. Symptoms of AI in children may initially be non-specific and include growth faltering, lethargy, poor feeding, weight loss, abdominal pain, vomiting and lingering illnesses. AI is treated with replacement doses of hydrocortisone. At times of physiological stress such as illness, trauma or surgery, there is an increased requirement for exogenous glucocorticoids, which if untreated can lead to an adrenal crisis and death...

BACKGROUND: Given the sparse nature of acute mania or psychosis in primary adrenal insufficiency (PAI), physicians may not be aware of the association of these two entities. OBJECTIVE: To conduct a systematic review of the literature for the purpose of identifying all studies reporting mania and/or psychosis in individuals with PAI. METHOD: We conducted a systematic review according to PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines using the PubMed, Embase, and Web of Science databases from June 22, 1970 to June 22, 2021, for the purpose of identifying all studies reporting instances of mania or psychosis associated with PAI...

Immune checkpoint inhibitors (ICPis) have proven extremely efficacious in cancer therapy but also lead to a plethora of immune-related adverse events (irAEs). The endocrine irAEs are not only quite common but also may pose a challenge to the clinician while managing a patient with cancer treated with ICPis. The clinical features of endocrine dysfunction are usually nonspecific and may overlap with concurrent illnesses, underlying the importance of accurate hormone testing and efforts toward case-finding. The management of endocrine irAEs is unique in the focus being on hormone replacement rather than curtailing the autoimmune process...

Over the past decade, the development of ICI (immune checkpoint inhibitors) has constituted a revolution in the treatment of many cancers, but with a specific toxicity profile including endocrine IRAEs (immune-related adverse events). As the indications for these molecules are constantly increasing due to their efficacy, it is important that endocrinologists and oncologists know how to detect, manage and monitor this type of toxicity. Many guidelines and recommendations have been proposed in the last few years for the management of endocrinopathies...

Cortisol, the main human glucocorticoid, is synthesized from cholesterol in the adrenal cortex and predominantly metabolized by the liver. Interpretation of quantitative results from the analysis of serum, urine and saliva is complicated by variation in circadian rhythm, response to stress as well as the presence of protein-bound and free forms. Interestingly, cortisol is the only hormone routinely measured in serum, urine, and saliva. Preanalytical and analytical challenges arise in each matrix and are further compounded by the use of various stimulation and suppression tests commonly employed in clinical practice...

Adrenal insufficiency (AI) is potentially life-threatening and accurate diagnosis is crucial. The first-line diagnostic test, the ACTH stimulation test, measures serum total cortisol. However, this is affected in states of altered albumin or cortisol-binding globulin levels, limiting reliability. Salivary cortisol reflects free bioactive cortisol levels and is a promising alternative. However, few studies are available, and heterogenous methodologies limit applicability. This study prospectively recruited 42 outpatients undergoing evaluation for AI, excluding participants with altered cortisol-binding states...

Adrenal crisis continues to be an important cause of death despite being a preventable condition. Significant deficits in patient education in the prevention of adrenal crisis have been identified as a contributor to adrenal crisis risk, despite the importance of patient education being highlighted in international guidelines. Deficits in clinician education have also been identified as risk factors for adrenal crisis although they have not been addressed. We use 3 clinical cases to highlight the role of both patient and clinician education in the prevention of adrenal crisis, review what is known about education related to adrenal insufficiency and provide a possible approach to addressing education deficits with the aim of reducing the risk of adrenal crisis through both patient and clinician education...

BACKGROUND AND AIM: Immune checkpoint inhibitors have significantly improved the clinical outcomes of many cancer types, but they induce a range of immune-related adverse events (irAEs). Although adrenal insufficiency (AI) is a rare irAE, it can lead to serious consequences. This study aimed to determine the clinical features of patients with advanced non-small-cell lung cancer (NSCLC) who developed AI following pembrolizumab treatment. METHODS: We retrospectively reviewed and analyzed the clinical data of all patients with NSCLC treated with pembrolizumab at Juntendo University Hospital from February 2017 to December 2020...

The generalized dysfunction of the hypothalamic-pituitary axis in patients with Prader-Willi syndrome (PWS) is the most likely cause of hypogonadism, inadequate growth hormone secretion, excessive appetite and associated obesity, impaired body temperature regulation, and hypothyroidism. The syndrome is also related to an increased risk of central adrenal insufficiency, although its prevalence remains unknown. The results of the studies in which different methods of pharmacological stimulation were used do not provide conclusive outcomes...

PURPOSE OF REVIEW: The present review summarizes recent advances in the diagnosis and management of patients with X-linked adrenoleukodystrophy (ALD). RECENT FINDINGS: Although ALD screening has been on the list of Recommended Uniform Screening Panel since 2016, only 30 states in the United States are currently testing their newborns for this disease. Hematopoietic stem cell transplant (HSCT) remains the only successful treatment option available for early cerebral ALD but does not reverse neurological changes or affect the course of adrenal insufficiency...