hrp0089p2-p044 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...

hrp0086p2-p399 | Gonads & DSD P2 | ESPE2016

Diagnosis of PCOS in Adolescents Using MRI

Maxime Fondin , Antoine Rachas , Van Huynh , Abella Stephanie Franchi , Jean-Paul Teglas , Lise Duranteau , Catherine Adamsbaum

Background: Polycystic ovarian syndrome (PCOS) diagnosis includes ovarian morphology using transvaginal ultrasound (US). However transvaginal US cannot be used in virginal girls and transabdominal US is not optimal particularly in obese patients.Objective and hypotheses: To evaluate the validity and reproducibility of ovarian morphology measures using MRI for the diagnosis of PCOS in adolescents.Method: This case-control study (200...

hrp0097rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

High incidence of Chiari type I anomalies on MRI in young patients with X-linked hypophosphatemic rickets (XLHR)

Rothenbuhler Anya , Parpaleix Alexandre , Debza Yahya , Adamsbaum Catherine , Linglart Agnès , Ertl Diana-Alexandra , Di Rocco Federico

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia. Even though skull and cranio-vertebral anomalies of potential neurosurgical interest are observed in children with XLHR, their actual incidence and characteristics are not well established. We aimed to analyze the incidence of Chiari type I anomalies in children with XLHRMethods and materials: Our retrospecti...

hrp0092fc2.3 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Higher Dose of Burosumab is Needed for Treatment of Children with Severe Forms of X-Linked Hypophosphatemia

Zhukouskaya Volha , Audrain Christelle , Lambert Anne-Sophie , Kamenicky Peter , Adamsbaum Catherine , Nevoux Jerome , Chaussain Catherine , Wicart Philippe , Briot Karine , Di Rocco Federico , Colao Annamaria , Di Somma Carolina , Trabado Séverine , Prié Dominique , Rothenbuhler Anya , Linglart Agnès

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by mutations in PHEX, leading to elevated FGF23 levels, hypophosphatemia and chronic renal phosphate wasting. Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of XLH. Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: ...