Year in Review in 2011

Clinical and experimental studies suggest that early life experiences, perhaps spanning multiple generations, affect lifelong risk of metabolic dysfunction through epigenetic mechanisms. Data published in 2011 suggest that epigenetic analysis could potentially have utility as a marker of early metabolic pathology and might enable early life prophylaxis.

Research in 2011 regarding β-cell destruction, early immunointervention trials and development of late complications in type 1 diabetes mellitus have highlighted the heterogeneity of this disease. Patient phenotyping should be performed for the implementation of tailored therapies, especially taking into account the age at which the disease is diagnosed.

Polycystic ovary syndrome (PCOS) is a complex genetic disease that affects approximately 7% of women of reproductive age worldwide. From novel pathways implicated in the etiology of PCOS through genome-wide association to characterization of the reproductive and metabolic changes that occur in ageing women with PCOS, the year 2011 has seen a number of studies published that highlight the intricacies of this condition.

With primary aldosteronism now widely acknowledged as common and associated with both hypertension-related and non-hypertension-related pathology, research interest into its causes and consequences continues to grow. In 2011, major breakthroughs occurred in understanding the role and nature of underlying genetic disturbances and elucidating the pathophysiology of its cardiovascular sequelae.

Over the past decade, investigators have actively searched for safer therapeutic approaches to replace or complement the use of bisphosphonates and/or parathyroid hormone, exploring both antiresorptive and osteoanabolic pathways. Besides marked progress in basic research, the year 2011 has seen several compounds for the treatment of osteoporosis enter or progress within clinical trials.

The complex relationship between pregnancy and thyroid function, and its clinical effect on mother and baby, continued to stimulate research in 2011. Key advances were made on three important issues: how long maternal thyroid function affects fetal thyroid hormone levels; whether thyroid autoimmunity affects pregnancy outcome; and the prevalence of permanent hypothyroidism after postpartum thyroiditis.

The majority of patients with type 2 diabetes mellitus have uncontrolled glycemia, blood pressure and lipid levels and struggle to achieve targets set by current guidelines. In 2010, subgroup analyses of the ACCORD trial further underscored the need to tailor treatment to each individual.

Landmark studies published in 2010 have shed new light on the biology of thyroid cancer. From cooperation between various genetic lesions during thyroid carcinogenesis to identification of the cell type primarily affected, the results of these studies offer a solid framework for future development of targeted thyroid cancer therapies.

Vitamin D deficiency increases the risk of autoimmune, cardiovascular and infectious diseases, type 2 diabetes mellitus, as well as the risk of falls and fractures. Several prospective, randomized, controlled trials published in 2010 highlight the importance of improving vitamin D status in children and adults to reduce the risk of upper respiratory tract infections and cardiovascular disease, amongst other disorders.

Safe, effective treatments that are more widely available than surgery are needed to combat obesity. Nonetheless, the FDA has voted against two new drugs and withdrawn another in 2010. Despite the uphill battle faced by those developing medical therapies, a number of studies demonstrate the variety of biological targets for obesity treatment.

The medical management of pituitary tumors is entering a new era. Novel compounds that directly target the pituitary tumor have shown promise in patients with treatment-refractory or recurrent Cushing disease and acromegaly. Furthermore, the alkylating agent temozolomide provides clinical benefit for patients with aggressive pituitary adenomas or carcinomas.