Current Opinion in Endocrinology & Diabetes and Obesity最新文献

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.

Purpose of review: Data on the health effects of androgen abuse are mainly derived from lower level evidence, such as case series and cross-sectional studies. In the last few years a relatively large and prospective cohort initiative, the HAARLEM (health risks of anabolic androgenic steroid use by male amateur athletes) study, made an important contribution to current knowledge.

Recent findings: The HAARLEM study showed that all androgen abusers experience positive and negative effects, such as an increase in strength and acne and gynecomastia, respectively. Effects are generally reversible and acute life-threatening toxicity is rare. There is a distinct but limited impact on liver and kidney function. Gonadal function is disrupted but resumes normally after abuse is discontinued in the majority of athletes. The negative impact of androgens on cardiovascular parameters, such as blood pressure, hematocrit and lipid metabolism, as well as cardiac structure and function, seems to be the mechanism for premature atherosclerosis and cardiomyopathy, respectively, in long-term users.

Summary: It is beyond dispute that androgen abuse is harmful and much of the short-term toxicity is well documented. To prevent the long-term health hazards, there should be ample focus on preventive measures, both primary and secondary, and effective harm reduction strategies should be developed.

Purpose of review: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in reproductive-age women and has reproductive, pregnancy, metabolic, dermatologic, and psychologic complications. Here we summarize current challenges and gaps in PCOS care, and propose a pathway forward to implement high quality international guideline recommendations and resources, through development of a best practice framework and benchmarking for evidence-based, patient-centric models of care (MoC).

Recent findings: The majority of women with PCOS are unsatisfied with their healthcare experience due to delayed diagnosis, inadequate information provision and inconsistent advice from diverse healthcare providers. The 2018 International Evidence-based PCOS Guideline recommended co-development of evidence-based, patient centric MoC. High-quality guidelines and resources are now available to help women understand and manage PCOS and to assist healthcare professionals to partner in their care. Leveraging these and developing a best practice framework for patient centric PCOS MoC is now a vital to optimise care and outcomes in this common and neglected condition.

Summary: Collaborative interdisciplinary efforts from academic leads, healthcare professionals and consumers are now needed to co-develop a framework and benchmarking performance indicators to guide evidence-based, patient centric PCOS MOC to improve experience and outcomes.

Purpose of review: This review aims to report the most recent (2020-2022) experimental scientific studies conducted on animal models, in order to highlight the relevant findings on the adverse effects related to androgen administration.

Recent findings: Forty-one studies published between January 2020 and July 2022 were selected. The majority of studies investigated the effects of one androgen, whereas only four studies analyzed the effects of two drugs. Nandrolone decanoate was the most investigated drug (20 articles), boldenone was tested in 8 articles, testosterone and stanozolol were used in 7 articles each, 17b-trenbolone, metandienone, and oxandrolone were tested in 1 article each. The articles clarify the adverse effects of androgen administration on the heart, brain, kidney, liver, reproductive and musculoskeletal systems.

Summary: The main findings of this review highlight that androgen administration increases inflammatory mediators, altering different biochemical parameters. The results concerning the reversibility of the adverse effects are controversial: on the one hand, several studies suggested that by stopping the androgen administration, the organs return to their initial state; on the other hand, the alteration of different biochemical parameters could generate irreversible organ damage. Moreover, this review highlights the importance of animal studies that should be better organized in order to clarify several important aspects related to androgen abuse to fill the gap in our knowledge in this research field.

Purpose of review: Narrative review of recent literature on optimization of assisted reproduction technology outcomes in patients with polycystic ovarian syndrome (PCOS).

Recent findings: The key areas of focus include pre cycle treatment with the goal of cohort synchronization, methods of ovulation suppression and trigger medication. There is no definitive evidence that precycle treatment with combined oral contraceptives (COCs) or progestins improve or negatively impact in vitro fertilization outcomes in patients with PCOS. The reviewed evidence supports consideration of progestins as suppression of premature ovulation in patients with PCOS as an alternative to gonadotropin releasing hormone (GnRH) antagonist if a freeze all protocol is planned. There is limited prospective evidence in PCOS populations regarding use of a dual trigger using GnRH agonist and human chorionic gonadotropin (hCG).

Summary: This review has implications for clinical practice regarding ovarian stimulation protocols for patients with PCOS. We also identified areas of research need including the further exploration of the value of pre cycle COC or progestin use in a PCOS population, also the use of GnRH agonist in combination with hCG in a well defined PCOS population and using GnRH agonist trigger alone as a control.

Purpose of review: To explore the recent updates in the diagnosis, management, and clinical implications of androgenic alopecia among patients diagnosed with polycystic ovarian syndrome (PCOS).

Recent findings: PCOS diagnosis continues to be the most common cause of infertility among reproductively aged women, serving as the most common endocrinopathy among this population. Female pattern hair loss (FPHL) has been seen to be associated and more common among patients with PCOS, however, there are limited studies examining the impact of FPHL among PCOS patients. Although hyperandrogenism is associated with FPHL, the pathophysiology continues to be unclear as FPHL can be present with normal biochemical androgen markers. Treatment can be complex, as common treatments to promote hair growth can exacerbate undesired hirsutism, which can be overcome by cosmetic treatments. New second-line treatment options such as low level laser therapy and platelet rich plasma have been emerging, with limited data supporting efficacy.

Summary: PCOS is a complex endocrinological disorder that has significant gynecologic, cutaneous, and metabolic implications that require multidisciplinary collaboration and care. Reproductive goals should be thoroughly discussed prior to starting any treatment, as PCOS is the most common cause of infertility among reproductively-aged women.

Purpose of review: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder among reproductive-age women, the most common cause of infertility among women and a major contributor to pregnancy complications.

Recent findings: Diagnostic and associated features of PCOS, including hyperandrogenism, insulin resistance, and obesity, contribute to the 2-4-fold increased risk of pregnancy-induced hypertension and preeclampsia, gestational diabetes and preterm birth observed among pregnant women with PCOS. PCOS should be diagnosed according to the 2018 International Guideline. Screening for and optimizing management of hypertension, impaired glucose tolerance and obesity in the preconception window in women with PCOS provides an opportunity to increase the odds of a spontaneous pregnancy, live birth with fertility treatment and possibly reduce the risk of pregnancy complications.

Summary: Providers should prioritize individualizing recommendations for preconception health optimization in women with PCOS in order to maximize the chance of conception, a healthy pregnancy and the health of future generations.

Purpose of review: This review provides an update on gestational diabetes (GDM) and other adverse pregnancy outcomes in individuals with polycystic ovary syndrome (PCOS), one of the most common metabolic disorders and causes of infertility.

Recent findings: Recent studies using Rotterdam diagnostic criteria for PCOS have supported prior literature suggesting that pregnant individuals with PCOS are at an increased risk of GDM. Risk factors for GDM in this population include overweight/obesity, insulin resistance, hyperandrogenism, amenorrhea, and history of miscarriage. It is possible that subtypes of PCOS (metabolic vs. lean/reproductive) pose differential risk. There are no current screening or treatment guidelines specifically for individuals with PCOS for GDM prevention. Although metformin has been studied for GDM prevention in PCOS, there has been no proven benefit. For infertility treatment, assisted reproductive technology and in-vitro fertilization do not appear to increase the risk of GDM in individuals with PCOS desiring pregnancy.

Summary: Recent studies of pregnant individuals with PCOS suggest an increased risk of adverse pregnancy outcomes, including GDM. Larger, prospective studies using standardized diagnostic criteria are warranted to determine if the risk is from PCOS generally, or if there are subtypes of PCOS (metabolic vs. lean/reproductive) at a higher risk of GDM than others.