Current Opinion in Endocrinology & Diabetes and Obesity最新文献

Purpose of review: The potential for fertility in Turner syndrome has improved in recent years. Understanding of associated risks and approaches is important for the care of girls and women with this condition. This review focuses on reproductive health, fertility options and appropriate counselling for women with Turner syndrome and their families.

Recent findings: Women with Turner syndrome have rapidly declining ovarian function beginning in utero . Therefore, counselling regarding fertility concerns should begin at a young age and involve discussion of options, including ovarian tissue cryopreservation, oocyte preservation and use of nonautologous oocytes. Clinical guidance on fertility management and pregnancy risk assessment based on karyotype, associated comorbidities and fertility is still not fully data driven. Realistic expectations regarding reproductive options and associated outcomes as well as the need for multidisciplinary follow-up during pregnancy are crucial to the ethical and safe care of these patients.

Summary: Fertility care in women with Turner syndrome is evolving as current management techniques improve and new approaches are validated. Early counselling and active management of fertility preservation is critical to ensure positive and well tolerated reproductive outcomes.

Purpose of review: Many childhood-onset growth disorders (COGDs) require continued care into adulthood, and the time of transition between paediatric and adult providers carries a high risk for interruptions in medical care and consequent worsening of disease management.

Recent findings: Research into best practices for healthcare transition (HCT) describes three distinct stages. Stage 1, transition planning and preparation, begins in the paediatric setting during early adolescence and ensures that the patient has adequate medical knowledge, self-management skills, and readiness for transition. Stage 2, transfer to adult care, occurs with variable timing depending on transition readiness and is best facilitated by warm hand-offs and, when possible, joint visits with the paediatric and adult provider(s) and/or involvement of a care coordinator. Stage 3, intake and integration into adult care, entails retaining the patient in the adult setting, ideally through the involvement of a multidisciplinary approach.

Summary: This review covers general principles for ensuring smooth transition of adolescents and young adults (AYA) with COGD, disease-specific medical considerations for paediatric and adult endocrinologists during the transition process, and general and disease-specific resources to assess transition readiness and facilitate transition.

Purpose of review: Glucose-lowering medications have become strong choices for purposes beyond glucose control in both patients with and without type 2 diabetes. Recent studies have explored the use of specific glucose-lowering therapies in areas such as cardiovascular disease, renal disease, obesity, nonalcoholic fatty liver disease (NAFLD), and Alzheimer's disease, among others. This begs the question if glycemic parameters should be the sole criteria utilized for initiation of diabetes therapeutic agents.

Recent findings: Sodium-glucose co-transporter 2 (SGLT-2) inhibitors and glucagon-like peptide-1 (GLP-1) receptor agonists in particular have demonstrated significant benefits beyond glucose control, with each demonstrating improvement, to various extent, on cardiovascular and renal outcomes, disease-modifying weight loss, progression from prediabetes, and treatment of NAFLD by ameliorating inflammation.

Summary: Clinical practice guidelines have been updated to reflect the use of these medications to achieve cardiometabolic, renal, and weight goals in addition to glycemic control. The success of glucose-lowering medications in the aforementioned areas have informed the research pursuits in investigating these agents for their anti-inflammatory, neuroprotective, and lipotoxic reduction effects in other diseases entirely.

Purpose of review: Bardet Biedl syndrome (BBS) is a rare disease characterized by obesity and hyperphagia. Despite the very high prevalence of paediatric and adult obesity in this population, the prevalence of diabetes mellitus is not well described.

Recent findings: Studies in small and moderately large cohorts suggest a high prevalence of traditional risk factors for diabetes mellitus in people with BBS. People with BBS appear to have a high prevalence of insulin resistance and metabolic syndrome. Small cohort studies have identified high rates of sleep disordered breathing, including sleep apnoea syndrome. Recent research has characterized traditional behavioural risk factors such as sleep hygiene and physical inactivity in people with BBS. High rates of insufficient sleep and prolonged sedentary time suggest behavioural targets of interventions to treat or prevent diabetes mellitus. Hyperphagia, likely caused by defects in the hypothalamic melanocortin-4 receptor (MC4R) neuronal pathway, pose additional challenges to behavioural interventions to prevent diabetes mellitus.

Summary: Understanding the prevalence of diabetes mellitus and other metabolic disorders in people with BBS and the impact of traditional risk factors on glucose regulation are important to developing effective treatments in this population.

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. There remains a significant knowledge gap in our understanding and treatment of this disease. Novel therapies such as gene therapy and gene editing have shown promising results in animal models and are exciting potential treatment options for the future.Recently, the American Academy of Neurologists released their consensus guidelines on the diagnosis, surveillance, and management of ALD.

Summary: Early diagnosis and HSCT are key to improving the morbidity and mortality associated with ALD. The implementation of universal newborn screening for ALD and rigorous investigations of novel diagnostic and therapeutic agents is the need of the hour.

Purpose of review: Atherosclerosis and associated cardiovascular risk factors originate in childhood; hence, early management of dyslipidaemia is vital. However, hypercholesterolemia remains untreated or undertreated in many youths. We review current therapies, drugs under investigation and consider potential future directions for the management of paediatric dyslipidaemia to highlight the recent evidence and new therapeutic options for future use.

Recent findings: Cardiovascular disease (CVD) risk factors in childhood, including dyslipidaemia, are associated with CVD risk and clinical CVD events in adulthood. Recent data show that initiation of statin therapy in childhood in children with familial hypercholesterolemia reduces the risk of CVD in adulthood. Several well tolerated and efficacious treatment options have become available in recent times for the management of dyslipidaemia in youth. Many new lipid-lowering drugs are under investigation to widen the available choices. Some of these drugs are now available for use in paediatrics, while some remain targets for future use.

Summary: We review available treatment options for paediatric dyslipidaemia management, discuss potential limitations and propose future directions. We also acknowledge the need for continued research in paediatrics for optimal paediatric dyslipidaemia management.