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...

Tumoral calcinosis is a rare autosomal recessive disease characterized by hyperphosphatemia due to increased renal phosphate reabsorption leading to soft tissue calcifications. The levels of fibroblast growth factor 23 (FGF23), a hormone required for normal renal phosphate reabsorption, are typically low in the classic form of the disease due to homozygous missense mutations in FGF23 or in the UDP-Nacetyl-alpha-D galactosamine:polypeptide N-acetylgalactos...

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 ...

Introduction: Osteoporosis is a prevalent skeletal disease associated with increased fracture risk, morbidity, and mortality. Several meta-analyses have investigated the association between non-genetic, non-pharmacologic factors and osteoporosis risk.Purpose: We aimed to perform an umbrella review of the literature to systematically evaluate the available evidence.Methods: Meta-analyses of observational studies evaluating the assoc...

Primary hyperparathyroidism (PHPT) is a frequent cause of secondary osteoporosis, but its role about the fracture is still controversial. We evaluated 157 consecutive postmenopausal patients with PHPT compared with two control subjects (C), each one matched for age and month-since-menopause (MSM). We measured ionized calcium (Ca2+), parathyroid hormone (PTH), 25-OH-vitamin D (25-OH vit D), osteocalcin (OC), bone alkaline phosphatase (B-ALP) and serum and urinary cro...

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...

The aim of the present study was to evaluate the phenotype of PHPT, the adherence to International Guidelines and the rate of surgical cure of PHPT in Italy. From January 2014–January 2016, we conducted a prospective, multicenter (n=29 endocrine tertiary referral centers) study on patients with PHPT, recording clinical and biochemical data, parathyroid imaging and therapy choice at baseline and at last follow-up. The study group included 604 patients with PHPT, w...