Endocrine Abstracts

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 ...

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...

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 molecular basis of parathyroid tumorigenesis has increased greatly over the last years and the variety of described abnormalities suggests different genetic defects leading to dysfunction of parathyroid cells. Using a combined approach based on two-dimensional electrophoresis (2DE) and mass spectrometry (MS) we performed a comparative proteome analysis to examine the global changes of parathyroid adenoma tissues protein profile with respect to the normal parathyroid tissue...

Primary hyperparathyroidism (PHPT) is usually a sporadic disorder, but in <10% of cases occurs as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism-jaw tumor syndrome (HPT-JT) and familial isolated hyperparathyroidism (FIHP).MEN 1 is an autosomal dominant disorder characterized by tumours in multiple endocrine glands, most commonly parathyroid, enteropancreatic and anterior pitui...

Primary hyperparathyroidism (PHPT) is usually a sporadic disorder, but in <10% of cases occurs as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism–jaw tumor syndrome (HPT–JT) and familial isolated hyperparathyroidism (FIHP).MEN1 is an autosomal dominant disorder characterized by tumours in multiple endocrine glands, most commonly parathyroid, enteropancreatic and anter...

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...