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...

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...

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...

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder, characterized by the predisposition to the development of multiple endocrine tumors mainly affecting parathyroids, gastroenteropancreatic neuroendocrine tissues (GEP-NET) and pituitary (PT). Mutations of the MEN1 gene are responsible for the disease and may be inherited from one of the parents or more rarely can occur de novo. In children and adolescence there is a paucity of cl...

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...

Atypical parathyroid tumors (APT) represent parathyroid neoplasms characterized by an uncertain malignant potential due to the presence of histological features typical of parathyroid carcinomas (PC), without infiltration of surrounding tissues. The diagnosis of APT can be very challenging. Surgery is often curative but patients with APT may experience recurrence. Although the molecular landscape of benign parathyroid adenoma (PA) and PC has been explored, only few cases of AP...

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 criterion for parathyroidectomy (PTX), this is known to increase the cure rate and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line techniques to detect hyperfunctioning parathyroid tissue, however, they have some limitations including the operator-dependent s...

Objective: Destructive thyroiditis is the most common endocrine immune related adverse event (iRAEs) in patients treated with anti-PD1/PD-L1 agents. Given its self-limited course, current guidelines recommend no treatment for this iRAE. Nevertheless in patients with enlarged thyroid volume and a poor performance status, thyrotoxicosis may be particularly severe and harmful. Aim of the study is to evaluate if steroid treatment might be useful in improving thyrotoxicosis in subj...

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...