Endocrine Abstracts

The diagnosis of normocalcemic primary hyperparathyroidism (PHPT) can be made in subjects whose total and ionized serum calcium are completely normal but in whom the PTH level is persistently elevated. In order to make the diagnosis of normocalcemic PHPT, secondary causes for an elevated PTH level should be ruled out, such as vitamin D insufficiency, or renal insufficiency. Replacing the former patients with vitamin D to reach levels now considered to be normal (i.e. >30 n...

Pseudohypoparathyroidism type 1 A (PHP-1A) is a rare genetic disorder characterized by hypocalcemia, hyperphosfatemia, multi hormones resistance (PTH, TSH, Calcitonin, GH) associated with Albright hereditary osteodystrophy (AHO) features. The disease is caused by GNAS haploinsufficiency due to inherited inactivating mutation of GNAS-gene that codes for the stimulatory alfa subunit of G protein. A positive genotype-phenotype correlation was recently hypothesized. The purpose of...

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 (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...

Context: Mutations of cytochrome P450 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH), a disease recently related to vitamin D catabolism impairment.Aim of the study: Report of clinical and biochemical features of a large family with a novel mutation of CYP24A1.Methods: We performed dosage of total calcium, ionized calcium, 24 h urinary calcium, PTH, 25-OH-Vitamin D (25-O...

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 ...

Primary hyperparathyroidism (PHPT) is mostly due to a benign parathyroid tumor (99%). Some have parathyroid ‘atypical adenomas’, rare tumors with histological features of parathyroid cancer (PC) (fibrous trabeculae, thick fibrous bands, mitotic figures in parenchymal cells), without local invasion or metastasis. We evaluated 20 patients with histological diagnosis of atypical adenomas. Patients were 13 women and seven males (mean age: 55±13 yrs). Nineteen patien...

Patients with chronic hypoparathyroidism (HypoPT) treated with oral calcium and active vitamin D metabolites are at risk of renal complications, because of the lack of action of PTH at the renal tubule. In the present study we evaluated 90 patients (68 females and 22 males; age: 51.8±14.1 yrs) with chronic postoperative Hypo (PO-HypoPT) diagnosed since at least 3 years. All patients were treated with calcitriol and 35 (39%) with oral calcium two patients were also treated...

Introduction and aims: Heart failure (HF) is a health problem with poor prognosis, despite many treatments available. Vitamin D is the pre-hormone of the active calcitriol (1,25(OH)2D3). It is involved in bone homeostasis, but recent studies suggest extraskeletal functions, including pleiotropic effects on cardiovascular system and a relationship between low levels of 25OHvitamin D and worse HF prognosis. The aims of the study were: 1) to define 25OH-D levels in the HF populat...

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...