Searchable abstracts of presentations at key conferences in endocrinology

ea0090oc8.5 | Oral Communications 8: Calcium and Bone | ECE2023

A vitamin D receptor antagonist as a potent and safe treatment for Idiopathic Infantile Hypercalcemia

Rovito Daniela , Lutzing Regis , Keime Celine , Metzger Daniel , Linglart Agnes , Laverny Gilles

Idiopathic Infantile Hypercalcemia (IIH) is a rare inborn form of severe vitamin D hypersensitivity, with an estimated incidence of 1:33.000 live birth and a high degree of misdiagnosis. Since the identification of CYP24A1 loss-of-function variants inducing IIH in 2011, over 41 pathogenic variants have been described, and represent the major genetic drivers of IIH1. CYP24A1 encodes the main catalytic hydroxylase of the bioactive form of vitamin D (1,25D3). Upon bind...

ea0037oc12.5 | Pituitary – Clinical | ECE2015

The clinical characteristics of X-linked acro-gigantism syndrome

Daly Adrian , Trivellin Giampaolo , Rostomyan Liliya , Yuan Bo , Choong Catherine , Young Jacques , Mantovani Giovanna , Naves Luciana , Lysy Philippe , Cheetham Tim , Shah Nalini , Metzger Daniel , Zatelli Maria Chiara , Strebkova Natalia , Mazerkina Nadia , Collins Michael , Lodish Maya Beth , Lupski James , Stratakis Constantine , Beckers Albert

X-linked acro-gigantism (X-LAG) is a rare novel genomic syndrome of pituitary gigantism that has a typical onset within the first year of life in children of normal or even low birth weight. X-LAG patients have a microduplications on chromosome Xq26.3 that includes a gene GPR101, which is highly upregulated in pituitary tumor tissue of affected patients. We performed a study of all 18 known X-LAG syndrome patients currently in the NICHD-University of Liège databa...