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...

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...

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...