搜索结果：Endocrinology and metabolism clinics of North America

This review will discuss the importance and homeostasis of calcium and magnesium in the human body, as well as the implications and treatment of disordered calcium and magnesium. With calcium and magnesium often considered to be the "forgotten cations" in medicine, it is our hope that this review will lead providers to evaluate for and effectively manage these electrolyte disorders in the emergency department.

Medullary thyroid carcinoma (MTC) is a rare form of thyroid cancer that has different treatment approaches than differentiated thyroid cancer. MTC can be a challenge to diagnose by ultrasound imaging and fine-needle aspiration, so it should be considered in the differential diagnosis of any atypical thyroid nodules. Preoperative and postoperative serum calcitonin levels can help guide the surgical approach and help in monitoring and imaging. Calcitonin and carcinoembryonic antigen doubling times are helpful in prognosis and imaging. Rearranged during transfection (RET)-directed kinase inhibitors have significantly improved our therapeutic options for patients requiring systemic therapy and newer RET-inhibitors are being studied in clinical trials.

A long lifetime of survivorship for thyroid patients with cancer lends it to unique healthcare-related concerns and quality-of-life issues. Thyroid cancer survivors report decreased health-care related quality-of-life (HRQOL) than survivors of other cancers, which encompass physical, practical, and psychological domains. As studies have shown improvement in HRQOL with thyroid lobectomy versus total thyroidectomy, consideration should be given to minimizing the extent of surgery and treatment to improve QOL when appropriate. Additionally, periodic reassessment of HRQOL domains is necessary to best support these survivors.

Adrenocortical carcinoma (ACC) is a rare, aggressive malignancy with symptoms arising from mass effect or hormonal excess, particularly hypercortisolism. Accurate diagnosis requires comprehensive clinical, hormonal, radiologic, and histopathologic evaluation. Surgical resection is the only curative treatment. Treatment decisions are guided by risk stratification based on stage, Ki67 index, and resection margin status. Mitotane, the only Food and Drug Administration-approved drug for ACC, is combined with etoposide, doxorubicin, and cisplatin as the standard treatment for patients with recurrent disease. Investigational therapies include tyrosine kinase inhibitors, immune checkpoint inhibitors, image-guided locoregional therapies, radiation therapy, and cell-based therapies.

Craniopharyngiomas (CPs) are rare brain tumors, categorized into 2 distinct types: adamantinomatous craniopharyngiomas (ACs) and papillary craniopharyngiomas (PCs). Their proximity to critical brain structures and high recurrence rates pose therapeutic challenges. Advances in cancer genomics have uncovered key molecular drivers, including BRAF V600E mutations in papillary and CTNNB1 mutations in ACs. These discoveries have prompted updates in tumor classification and the development of novel targeted therapies. B-Raf proto-oncogene, serine/threonine kinase (BRAF) and mitogen activated protein kinase (MEK) inhibitors have shown remarkable efficacy in treating PCs, while systemic therapeutic options for ACs remain limited. This article highlights the pathogenesis, molecular profiles, and emerging targeted therapies for these challenging tumors.

The adrenal cortex is responsible for the synthesis of glucocorticoids, mineralocorticoids, and adrenal androgens, all derived from cholesterol through a series of enzymatic reactions. This process is known as steroidogenesis. Deficiency of various enzymes required for steroid synthesis causes congenital adrenal hyperplasia (CAH), a group of inherited disorders characterized by impaired cortisol synthesis often accompanied by mineralocorticoid deficiency and abnormalities in androgen synthesis, depending on the specific enzyme defect. The most common type of CAH is 21-hydroxylase deficiency. Management of all CAH types typically requires glucocorticoid therapy.

With tumor molecular discoveries, novel therapeutics, and innovative intraoperative technologies, there has been rapid change and progress in thyroid oncology. Molecular genetic testing of thyroid neoplasms, parathyroid autofluorescence, recurrent laryngeal nerve monitoring, thermal ablative techniques, remote access surgery, and neoadjuvant targeted therapy treatment strategies represent opportunities for enhanced surgical outcomes and improved patient quality of life. Trends in de-escalation of thyroid surgery and postoperative adjuvant therapies for many thyroid cancers further allow personalization of treatment strategies to align with patient goals of care. Surgeons are challenged to pursue scientific discovery and evidence-based application of these new technologies to patient care.

Diabetes management has continued to evolve with new treatments and technology. This article discusses the approach to evaluation and management of two distinctive subsets of patients: (1) patients who manage their diabetes with an insulin pump (artificial pancreas) and (2) patients who have received a pancreas transplant. The most current literature is reviewed and pearls and pitfalls distinctive to these two patient populations are discussed. Relevant diagnostics are reviewed with emphasis on recognition of complications faced in the emergency department management of these unique patient populations.

This article summarizes hereditary conditions associated with adrenal tumors, emphasizing the importance of germline genetic testing in patients with adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL). ACC is strongly linked to syndromes such as Li-Fraumeni, Lynch, and Beckwith-Wiedemann, while PPGL has one of the highest hereditary rates among endocrine tumors, often involving SDHx genes and other susceptibility genes, including VHL, RET, NF1, MAX, and TMEM127. The article outlines clinical features, gene-specific risks, management considerations, and evolving surveillance guidelines. Identifying hereditary predispositions improves patient care, guides targeted surveillance, and allows cascade testing for at-risk family members.

Cushing's disease (CD), the most common cause of Cushing's syndrome (CS), is ideally treated by resection of the underlying ACTH-producing pituitary adenoma. However, it may be difficult to establish that CD is the underlying etiology of CS. In this article, we outline a suggested diagnostic approach and discuss common pitfalls, from initial screening for hypercortisolism through the evaluation of ACTH-dependence and confirmation of the presence of a pituitary tumor using imaging and biochemical testing. Most diagnostic steps should preferably take place at a center specialized in pituitary disorders that uses optimized MRI techniques, has access to bilateral inferior petrosal sinus sampling, and an experienced pituitary surgeon.

This article explores the sex difference in incidence and progression of differentiated thyroid cancer (DTC). The article examines epidemiologic studies highlighting sex disparities in survival rates between men and women, with women experiencing a more favorable prognosis before menopause. It also discusses the role of sex hormones, genetic and epigenetic factors, and the immune system as potential contributors to the underlying mechanism of sex difference in DTC. The article advocates for sex-specific research to better understand the molecular mechanisms behind these observed sex differences and to develop targeted, sex-specific, and more individualized therapies for advanced, radioactive iodine refractory thyroid cancer.

Inadequately treated hypoglycemia can cause seizures, permanent brain injury, and death. Children with congenital hyperinsulinism-the leading cause of persistent hypoglycemia in infants and children-have a particularly high risk of brain injury. Early identification, diagnosis, initiation of therapy, and maintenance of euglycemia are critical to mitigate risks of hypoglycemia-induced morbidity for all children. Despite this, access to screening and diagnostic tests, standard of care treatment, and specialist care for children with hypoglycemia varies widely across socioeconomic and geographic populations. This review evaluates disparities in each of these elements-screening, diagnosis, treatment, longitudinal care, and outcomes-through the lens of hyperinsulinism.

The authors summarize the evolving role of radioiodine therapy in differentiated thyroid carcinoma with focus on indications for radioiodine therapy, careful selection, risk-based therapy approach, and treatment of locally-advanced and distant metastatic disease.

Disrupted puberty in males may result from self-limiting constitutional delay of growth and puberty (CDGP) or abiding hypogonadism (ie, congenital hypogonadotropic hypogonadism, CHH). This article provides an overview of normal puberty, CDGP, and CHH and synthesizes current evidence on health and wellbeing outcomes. Particular attention is given to the drivers of disparities in outcomes and discussion of future directions to advance the care of males with disrupted puberty.

Adrenal incidentalomas are a modern-day problem, which has slowly been met by modern day technological innovations. Further characterization of adrenal masses with evolving imaging techniques, urine metabolomics, and machine learning has continued to evolve. Nevertheless, there is much to uncover regarding the natural history of adrenal nodules and consensus regarding cutoffs for intervention. Costs of routine follow-up, which include financial, psychological, and medical, need to be carefully weighed against the benefits.

In the United States, chronic health conditions are commonly associated with financial burden and resultant financial toxicity. Although the problem is widespread, financial burden is not evenly distributed in the United States. Cancer survivors are more commonly affected and report a greater than 50% prevalence of financial burden. Race, sex, age, income, and insurance status are also predictors of financial burden. This article will examine financial toxicity through the lens of thyroid cancer, describe the magnitude of the problem, explore the etiologies and consequences, and outline some potential solutions.

Skeletal fragility is a complication of acromegaly closely related to hypersecretion of growth hormone (GH) and insulin-like growth factor-1. In this condition, altered-bone remodeling causes deterioration of bone microstructure and impairment of bone strength, resulting in a high risk of vertebral fractures. The management of skeletal fragility in acromegaly might be a challenge since prediction of fractures is difficult, biochemical control of GH hypersecretion does not restore normal bone structure in most of patients, and the efficacy of bone-active drugs in this clinical context is unknown. This article deals with emerging pathophysiologic, clinical, and therapeutic aspects of acromegalic osteopathy.

Radiation therapy in one form or the other has an important role in the treatment of thyroid cancer. In the definitive setting, external beam radiation therapy is used in situations where microscopic or gross residual disease after thyroidectomy cannot be effectively treated with radioactive iodine or with targeted therapy. In patients with metastatic disease to the lungs, bone, brain, or other organs, different types of radiation can be administered depending on the clinical situation of the patient.

Thyroid cancer demonstrates variable prognosis depending on disease severity with low-risk tumors showing excellent survival rates and high-risk cases facing poorer outcomes. Radioactive iodine therapy is the standard treatment. However, individualized dosing is still debated. Despite the international guidelines recommend high activities for metastatic disease, there is still a potential risk of overtreatment or undertreatment. Dosimetry calculates absorbed radiation to optimize treatment minimizing toxicity. Challenges influencing treatment response include patient variability, genetic mutations, tumor microenvironment, and pharmacokinetics. On the other hand, emerging technologies promise to standardize and improve dosimetry, refining theragnostic approaches and enabling personalized therapies.