Endocrine Abstracts

X-linked hypophosphatemia (XLH), representing about 80% of hypophosphatemic rickets, is an X-linked dominant disease due to inactivating mutations in the PHEX gene (located at Xp22.1) resulting in an excessive secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23). The effects are renal phosphate wasting and reduced active vitamin D synthesis leading to rickets, osteomalacia, bone deformities, odontomalacia, frequent dental abscesses and disproporti...

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...

Hypoparathyroidism (HypoPT) is the only hormone deficiency syndrome whose standard treatment is not based on the replacement of the missing hormone. Although most cases of postsurgical HypoPT can be effectively managed with the conventional use of oral calcium and active vitamin D (SOC therapy), some patients require very high doses and develop complications such as hypercalciuria, renal stones, nephrocalcinosis and ectopic calcifications. In the last few years, recombinant hu...

We report the case of a 35 yrs- old man, who was referred to our Department in 2012, for symptomatic nephrolithiasis and low bone mass. Biochemical evaluation showed moderate hypercalcemia [albumin-corrected calcium 13.1 mg/dl (8.6–10.2) and markedly elevated PTH levels [1391 pg/ml (13–65)] consistent with the diagnosis of primary hyperparathyroidism (PHPT). Neck ultrasound revealed three enlarged parathyroid glands. The patient underwent right superior and inferior ...

This is a multicentre retrospective observational study, with the aim to characterize the presentation, management and cure rate of Primary Hyperparathyroidism (PHPT) in Italy. Sixty-one Italian Centres of Endocrinology participated in the study. Clinical, biochemical and instrumental records of 2173 patients with diagnosis of PHPT were collected on a specific online platform (Hyperparanet). Patients were 1808 females (83.2%) and 365 males (16.8%). Diagnosis of PHPT was made a...

Primary hyperparathyroidism (PHPT) is a common endocrine disease mainly caused by a single parathyroid adenoma. Although the localization of the parathyroid adenoma is not a surgical criteria for parathyroidectomy, this is known to increase the cure rate of PHPT and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line localization techniques to detect parathyroid adenomas, however, they have some limitations including the operator-dependent se...

The G protein-coupled calcium sensing receptor (CaSR), widely expressed on the surface of parathyroid chief cells and in the kidney, plays a central role in calcium homeostasis. Activating mutations of CaSR gene are responsible for autosomal dominant hypocalcemia (ADH), a rare disorder caused by hypocalcemia, hyperphosphatemia, hypercalciuria and inadequately low concentration of parathyroid hormone (PTH). In this study, we report a family affected by ADH. The proband...

Pseudohypoparathyroidism (PHP) is group of heterogeneous disorders characterized by hypocalcemia, hyperphosphatemia and elevated paratormone (PTH) levels as a result of end-organ resistance to PTH. Basal ganglia calcification (BGC) in states of hypoparathyroidism is not uncommon. In PHP, BGC can occur up to 50%; the pathogenesis is poorly defined. The aim of our study was to evaluate the prevalence of BGC at baseline observation in a series of patients with PHP followed at a t...

Introduction and aims: Primary Hyperparathyroidism (PHPT) is a common endocrine disease associated with hypercalcemia and elevated or inappropriately normal serum levels of PTH. Among PHPT manifestations, neuropsychological symptoms have been described, including depression, anxiety, loss of memory, impaired cognition, with a wide range (3-50%) depending on the study population. Neuropsychological/ccognitive symptoms in patients with PHPT have been evaluated as part of quality...

HDR syndrome is a rare condition with an autosomic dominant inheritance, firstly described in 1977. It is due to a mutation of GATA3 gene, a transcription factor expressed in parathyroid, inner ear, kidney, central nervous system and T lymphocytes. The most common manifestation is neurosensorial deaf, secondary to progressive degeneration of coclear cells. Hypoparathyroidism is present in 90% of patients that can be asymptomatic or, sometimes presents with ne...