Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction

In this review, Maithe Tauber and Charlotte Hoyle provide a comprehensive description of the genetics, pathophysiology, and treatment approaches of this rare and devastating disorder. To read the review in The Lancet, click here.

 

Evaluation and Treatment of Patients With Hypercortisolism

Barbra S. Miller, and Richard J. Auchus discuss the evaluation and treatment of patients with hypercortisolism (Cushing’s disease) focusing on pathophysiology of the disease; pitfalls in the diagnosis of hypercortisolism; and preoperative, perioperative, and postoperative management considerations. The authors find subclinical hypercortisolism is likely more prevalent than we once thought and often goes undiagnosed for a long time despite causing many of the same adverse effects as overt hypercortisolism. The authors call for more attention in the future on early diagnosis and treatment of hypercortisolism, whether subclinical or overt. To read the full review in JAMA, click here.

 

Osteogenic Mechanisms of Basal Ganglia Calcification and its ex vivo Model in the Hypoparathyroid Milieu

Basal-ganglia calcification (BGC) is very common in chronic hypoparathyroidism patients; however cortical grey matter is unaffected by calcification. Parmita Kar and colleagues assess the expression of different molecules with proosteogenic or antiosteogenic effects, including neuroprogenitor cells in caudate, dentate, and cortical gray matter compared to normal autopsy tissues. The effect of high phosphate and PTH was assessed in an ex vivo rat model of BGC. The results support the possibility of PTH therapy to prevent BGC as a complication of chronic hypoparathyroidism. To read the full study in Endocrinology, click here.