ESPE Abstracts

ESPE Abstracts

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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: ...
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hrp0092p1-23 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Increased Prevalence of Overweight and Obesity and its Clinical Predictors in Children Affected by X-Linked Hypophosphatemia

Zhukouskaya Volha , Rothenbuhler Anya , Colao Annamaria , Di Somma Carolina , Kamenicky Peter , Trabado Séverine , Prié Dominique , Audrain Christelle , Barosi Anna , Kyheng Christèle , Lambert Anne-Sophie , Linglart Agnès

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, characterized by chronic hypophosphatemia. XLH children present with progressive skeletal deformities (leg bowing, waddling gait, poor growth and disproportional short stature), dental abscesses, and craniosynostosis. Most affected children have been treated so far with multiple dail...
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hrp0094p1-143 | Sex Endocrinology and Gonads B | ESPE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21 hydroxylase deficiency in Europe

Nowotny Hanna F. , Neumann Uta , Tardy-Guidollet Veronique , Ahmed S. Faisal , Baronio Federico , Battelino Tadej , Bertherat Jerome , Blankenstein Oliver , Bonomi Marco , Bouvattier Claire , de la Perriere Aude Brac , Brucker Sara , Cappa Marco , Chanson Philippe , Grinten Hedi L. Claahsen van der , Colao Annamaria , Cools Martine , Davies Justin H. , Gunther Dorr Helmut , Fenske Wiebke K. , Ghigo Ezio , Gravholt Claus H. , Huebner Angela , Husebye Eystein Sverre , Igbokwe Rebecca , Juul Anders , Kiefer Florian W. , Leger Juliane , Menassa Rita , Meyer Gesine , Neocleous Vassos , Phylactou Leonidas A , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Vojtkova Jarmila , Yeste Diego , Lajic Svetlana , Reisch Nicole ,

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...
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