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hrp0095p1-228 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effect of burosumab treatment on phosphate metabolism and bone health in patients with X-linked hypophosphatemic rickets (XLH). Preliminary data within an Italian sample.

Baroncelli Giampiero , Comberiati Pasquale , Rita Sessa Maria , Pelosini Caterina , Grandone Anna , Camodeca Rosanna , Emma Francesco

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

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hrp0084p3-780 | DSD | ESPE2015

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

Russo Gianni , Baldinotti Fulvia , Ghirri Paolo , Meroni Silvia , Colombo Ilaria , Moscuzza Francesca , Baroncelli Giampiero I , Sessa Maria R , Dati Eleonora , Bertelloni Silvano

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

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ESPE Abstracts

Effect of burosumab treatment on phosphate metabolism and bone health in patients with X-linked hypophosphatemic rickets (XLH). Preliminary data within an Italian sample.

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

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