Reviews & Analysis

The correct diagnosis of a child with a disorder of sex development (DSD) is crucial and can be life-saving. The most challenging situation for the pediatric endocrinologist and for the parents occurs when the sex cannot be determined at birth. A UK task force has now published novel guidelines that delineate the complex program needed for an initial diagnosis.

A recent retrospective study assessed the use of adrenal vein sampling (AVS) in conjunction with CT to help in the diagnosis of primary aldosteronism subtypes. On the basis of their findings, Sarlon-Bartoli et al. conclude that AVS is essential in the diagnosis of primary aldosteronism and that all patients, regardless of adrenal CT findings, should undergo AVS prior to surgery.

Despite advances in treating HIV infection, dyslipidemia and accelerated cardiovascular disease are prevalent in this patient population. In the Heart Positive study, Balasubramanyam et al. suggest that fenofibrate and niacin combined with diet and exercise are an effective treatment for dyslipidemia in HIV-infected patients.

A recent report has found an association between the methylation status of specific genes in human fetal tissue and the subsequent development of childhood adiposity in two longitudinal cohorts. Would epigenetic analysis at birth, therefore, have utility in identifying future risk of obesity?

A recent study of health outcomes among Asian Americans and Pacific Islanders with diabetes mellitus demonstrates that use of broad racial categories can mask important differences in risks among ethnic subgroups and emphasizes the importance of appropriate classifications as a strategy for improving our understanding of health outcomes among ethnic minority groups.

Painful diabetic neuropathy is a common complication of diabetes mellitus. Based on strong evidence, recently published guidelines suggest that pregabalin should be offered as first-line therapy in patients with painful symptoms. Nevertheless, other agents and nonpharmacological therapies may also be effective for the treatment of painful diabetic neuropathy.

Prior assessment of fracture risk with clinical risk factors can lead to better targeted use of BMD measurements, particularly in patients aged <65 years without a previous fracture. The updated statement by the US Preventive Services Task Force on screening for osteoporosis adopts FRAX^® to implement this approach.

Prevailing guidelines advocate a low-salt diet to mitigate progression of renal and cardiovascular disease in patients with diabetes mellitus. However, two recent cohort studies in patients with type 1 and type 2 diabetes mellitus associate lower salt intake with increased rates of end-stage renal disease, cardiovascular death and all-cause mortality.

Advances in the development of bone-modifying agents have led to the approval of new drugs for the prevention and treatment of skeletal-related events in patients with bone metastases from breast cancer. In light of these advances, the American Society of Clinical Oncology has published a guideline update.

Protein–calorie malnutrition and obesity are global afflictions for which the main diagnostic measure is the BMI. A new index based on hip circumference—the body adiposity index (BAI)—could overcome BMI limitations as a measure of adiposity and may have value in settings in which weight scales are unavailable.

Advances in the diagnosis, treatment and management of neuroendocrine tumors have led to a consensus meeting of the National Cancer Institute, the new directions of which are now reported by Kulke and colleagues. Many thoughtful proposals are presented that should be of interest to the increasing number of physicians who see patients with these unique tumors.

Populations all around the world are becoming more obese, but some are doing so much faster than others. Yet even in seriously affected populations, blood pressure, cholesterol and coronary heart disease death rates continue to fall. Is obesity a trifling matter, or is it just less telling than everything else put together?

Optimal strategies to treat patients with obesity have remained elusive. Now, Bo et al. demonstrate the contribution of a set of easily changeable lifestyle factors—sleep restriction, high consumption of restaurant meals and increased room temperature—to the incidence of obesity and hyperglycemia in an Italian population-based cohort.

New guidelines from the American College of Sports Medicine and the American Diabetes Association provide specific exercise advice for individuals with type 2 diabetes mellitus, while new research emphasizes the importance of getting people off the couch and moving more often throughout the day.

With improved survival of patients with cystic fibrosis, a new management challenge is emerging—cystic fibrosis-related diabetes mellitus—but what aspects of the management of this disease are based on solid evidence? A new guideline takes steps towards providing the ultimate goal of a consistent and cogent management strategy.

Mutations in genes encoding transcription factors that control pituitary development cause early-onset pituitary hormone deficiencies. Now, circulating antibodies against one such factor, PIT1, have been identified as being responsible for hormone deficits and pituitary cell loss similar to those caused by mutations of its gene POU1F1 but with a late onset.

Rapid advances in genotyping technology coupled with the vast success of genome-wide association studies have raised hope and expectations that genetic testing will pave the way to personalized medicine. But do personal genome profiles motivate people to change their lifestyle? Or do they merely increase anxiety?

The health responses to antenatal vitamin A supplementation evaluated in randomized intervention trials were recently systematically reviewed by van den Broek and colleagues. The importance of this update is reflected in the persistence of vitamin A deficiency during pregnancy and its potential to affect maternal and infant health and survival in many low-income countries.

Up to one-third of patients treated with levothyroxine for primary hypothyroidism have biochemical evidence of inadequate thyroid hormone replacement. Could treatment effects of levothyoxine be optimized by bedtime administration on an empty stomach? A new study reveals the answer and also sheds light on other possible benefits of this alternative timing.

Findings from a recent study indicate that patients who have received treatment for a pituitary tumor use less effective coping strategies and have a poorer quality of life than healthy control individuals. Targeted intervention could encourage these patients to use different coping strategies and thus improve their quality of life.