Endocrine Abstracts

Autosomal dominant hypocalcemia type 1 (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of PTH. It is caused by a heterozygous activating mutation of the calcium-sensing receptor (CASR) gene, resulting in decreased sensitivity of the receptor to low serum calcium. The aim of our study was to describe a series of patients with ADH1 followed at our outpatient clinic from 2011 to 2023. A total of 7 patients (4 femal...

Current clinical presentation of PHPT is mild disease with an increased risk of fragility fractures. PHPT predominantly occurs in postmenopausal women, who have an increased risk of osteoporosis and fractures due to ageing and loss of estrogen.Aims: To explore skeletal phenotypes in postmenopausal women affected by PHPT with a wide clinical and biochemical spectrum of disease.Patients: Postmenopausal (at least 5 years from last men...

The clinical diagnosis of MEN1 is established when a proband manifests at least two of the manifestations of the triad (Primary Hyperparathyroidism (PHPT), Pituitary adenoma, Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET)). Typically, it is a familial disease (F-MEN1), while in about 10% of cases the disease is sporadic. In sporadic forms (S-MEN1), up to 70% of patients may exhibit a negative genetic analysis (MEN1-negative). These patients seem to have distinc...