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...

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...

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...

The ‘canonical’ Wnt/β-catenin pathway plays an important role in the development and patterning of bone. Dkk1 (Dickkopf1) and sclerostin are competitive soluble inhibitors of this pathway. Serum sclerostin is decreased in patients with primary hyperparathyroidism (PHPT) compared to the healthy subjects and hypoparathyroid (HypoPT) patients. No data are currently available on Dkk1 serum level in PHPT.We evaluated serum Dkk1 and sclerostin l...

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...

Primary hyperparathyroidism (PHPT) is a common disorder in adults but is uncommon in young people and features of juvenile PHPT (J-PHPT) are debated in literature. The aim of the study was to evaluate the characteristics of PHPT in juvenile sporadic (S) and familial (F) patients. It’s a monocentric prospective study at a referral centre in 154 patients with ≤40 years. Patients were evaluated at diagnosis and at the last follow-up visit (median follow-up 2 years), co...

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 ...

The 4th International Workshop for the management of asymptomatic PHPT included the presence of hypercalciuria (dUCa> 400 mg/day) and increased stone risk by biochemical stone risk profile as criteria for surgery. Our aim was to evaluate the complete stone risk profile in 176 consecutive patients with asymptomatic PHPT. We recorded clinical and biochemical data, including 24 hours urinary measurements of the following parameters: volume and pH, creatinine, calcium, magnesi...

Familial Isolated Hyperparathyroidism (FIHP) is a hereditary disorder characterized by primary hyperparathyroidism (PHPT) with no evidence of other endocrine disorders. Germline MEN1, CDC73 and CASR mutations have been identified, but the majority of FIHP has still unrecognized causes. The aim of this study was to identify, by whole-exome sequencing, novel gene alterations in a large FIHP kindred. The family’s proband, her sister, brother and ni...