Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep177 | Calcium and Bone | ECE2022

Identification of GATA3 pathogenic variants in two patients with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome

Dinoi Elisa , Pierotti Laura , Mazoni Laura , Borsari Simona , Apicella Matteo , Baldinotti Fulvia , Caligo Maria Adelaide , Marcocci Claudio , Cetani Filomena

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...

ea0063gp39 | Metabolic Syndrome and Hypoglycaemia | ECE2019

Generalized lipodystrophy associated with delayed neuro-somatic development and multiple dysmorphisms in a neonate with a compound heterozygous missense mutation in the SYNE2 gene

Pelosini Caterina , Ceccarini Giovanni , Aretini Paolo , Lorenzoni Francesca , Magno Silvia , Caligo Maria Adelaide , Sessa Maria Rita , Ferrari Federica , Ghirri Paolo , Santini Ferruccio

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

ea0099p445 | Calcium and Bone | ECE2024

Clinical characterization of a cohort of patients with multiple endocrine neoplasia syndrome type 1 (MEN1): role of the MEN1 gene mutation on the phenotypic expression of the syndrome

Pierotti Laura , Pardi Elena , Sardella Chiara , Valentina Simone/////Della , Lago Anna Dal , Piaggi Paolo , Bogazzi Fausto , Caligo Maria Adelaide , Cetani Filomena

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...