Endocrine Abstracts

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...

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...

Subtotal parathyroidectomy (PTX) is considered the surgery of choice for patients with MEN1, because it optimally balances the risk of recurrence/persistence against surgical complications. Notably, MEN1 patients negative at the genetic test (MEN1-negative) seem to exhibit distinct clinical characteristics compared to their mutated counterparts (MEN1-positive). Therefore, we hypothesized that these patients may also have a different surgical outcome. The obje...

Primary hyperparathyroidism (PHPT) is rare in the pediatric population, with an estimated incidence of 0.5–5 cases per 100,000 person-years in children. Data regarding the clinical phenotype, the surgical outcomes are scarce. The objective of our study was to retrospectively analyze the phenotype of apparently sporadic PHPT in patients ≤21 years in major endocrinology reference centers in Italy. None of the patients had known familial syndromes. A total of 41 patien...

X-linked hypophosphatemia (XLH) is a rare genetic disease due to inactivation of the PHEX gene, which results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23); the latter induces renal phosphate wasting and hypophosphatemia. Skeletal and dental anomalies and recently described increase in cardiovascular risk are typical clinical findings. We retrospectively evaluated 58 adult patients with XLH from 9 Italian tertiary centres [34 females, 24...