Endocrine Abstracts

Pseudohypoparathyroidism (PHP) refers to a group of heterogeneous genetic diseases, characterized by resistance to PTH and frequently other hormones activating cAMP-dependent events down-stream of different G protein-coupled receptors. PHP-Ia and Ib, the most frequent forms, are caused by mutations within the GNAS locus that encodes Gαs and several splice variants thereof. We describe a 36-year-old man with sporadic PHP-Ib with renal PTH-resistance, yet severe hyperparath...

Vitamin D deficiency is widespread among all age and ethnic groups. Serum 25-hydroxyvitamin D [25(OH)D] is the most reliable marker of vitamin D status. Adequate levels of serum 25(OH)D are necessary to sustain the pleiotropic effects of vitamin D, either skeletal (classical) or extra-skeletal (non-classical). Concentration levels ≧50 nmol/L (20 ng/ml) are required for optimal musculoskeletal health. However, levels above 75 nmol/L (30 ng/ml) may be necessary to maximiz...

Aim of this 2-year, prospective, randomized study is to compare the effect of parathyroidectomy (PTX) vs no treatment in patients with asymptomatic primary hyperparathyroidism (PHPT), who didn’t meet the 1991 NIH criteria for surgery. The study was approved by our local Ethical Committee. The primary endpoint was the change in lumbar spine bone mineral density (BMD); secondary endpoints were BMD changes at femur and distal radius, markers of bone turnover, quality ...

RAP (LDL receptor associated protein) is a 44 kDa endoplasmic reticulum (ER) resident molecular chaperone. In the thyroid RAP is required for expression of megalin, an endocytic receptor responsible for transcytosis of thyroglobulin (Tg), but it also binds to Tg itself, suggesting it may affect thyroid function in various manners. Indeed, findings in RAP KO mice indicate that disruption of the RAP gene results in impaired Tg storage into the colloid, suggesting that RAP serves...

Primary hyperparathyroidism (HPT) is most frequently encountered as a non-familial disorder, but 10% of patients with primary HPT will have a hereditary form, which may occur as an isolated endocrinopathy or as part of a complex tumour syndrome such as multiple endocrine neoplasia type 1 (MEN 1) or type 2 (MEN 2), or the hereditary hyperparathyroidism-jaw tumour syndrome (HPT-JT). Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterised by u...