Author

E. Pardi

2 papers indexed here

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Open access Aug 2026

Clinical features of MEN1 in children, adolescents, and young adults: a single-center study

Background Multiple endocrine neoplasia type 1 (MEN1) can present during childhood and adolescence, yet data on the full endocrine and non-endocrine phenotype in young patients remain limited. Methods We conducted a retrospective single-center study of genetically confirmed MEN1 patients diagnosed at ≤21 years and foll...

S. Della Valentina, L. Pierotti, E. Pardi et al. · Frontiers in Endocrinology · 0 citations

Case report Open access Sep 2026

Case report: A Newly Identified G-protein Subunit α-11 Loss-of-Function Variant Causing Familial Hypocalciuric Hypercalcemia Type 2 in an Italian Kindred

Background FHH2 is the rarest subtype of familial hypocalciuric hypercalcemia disorders affecting the CaSR signaling pathway. It is caused by heterozygous loss-of-function mutations in the GNA11 gene, encoding Gα11 protein. Only seven GNA11 pathogenic variants have been reported so far. Case description We report the c...

F. Cetani, F. Citro, S. Borsari et al. · Frontiers in Endocrinology · 0 citations