Endocrine Abstracts

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 ...

Context: Teriparatide may represent a possible treatment for hypoparathyroidism when oral supplementation with calcium and calcitriol fail to maintain adequate serum calcium level (SCL). The switch from teriparitide to oral calcium and calcitriol could be challenging and there is no consensus for clinical management.Case presentation: A 50-year-old man was admitted at our Department for teriparatide discontinuation. Three years before admission, the pati...

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...

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...

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...

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...

The kidney is an important target of primary hyperparathyroidism (PHPT). The 4th International Workshop for the management of Asymptomatic PHPT included the presence of hypercalciuria (24-h urinary calcium > 400 mg/day) and increased stone risk by biochemical stone risk profile as criteria for surgery. Increased stone risk profile was defined as at least one between ßCaOx>4 and ßHPO4>2, as defined in literature in a different study population. The aim of ...