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hrp0098p2-17 | Adrenals and HPA Axis | ESPE2024

17OHP and cortisol day curve profiles for children using hard-capsule modified release hydrocortisone as compared with immediate release hydrocortisone.

Petkovic Grace , Blair Joanne , Senniappan Senthil , Park Julie

Background: Childhood adrenal insufficiency (AI) is generally treated with immediate release hydrocortisone (IRH), which has a short half-life, requiring multiple daily doses. Modified-release hard hydrocortisone capsules (Efmody®) (MRH) is licenced for use in children >12yrs with congenital adrenal hyperplasia (CAH).Aims: (1) Describe the characteristics of children switched to MRH; (2) Report blood spot 17-hydro...

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hrp0092p2-180 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Sudden Death in an Infant Attributed to Arrhythmia Associated with Beckwith-Wiedemann Syndrome due to Hypomethylation of Imprinting Control Region 2 on Chromosome 11p15.5

Petkovic Grace , Sethi Aashish , Apperley Louise , Senniappan Senthil , Blair Joanne , Kokai George , Didi Mohammed

Introduction: Hypomethylation at the imprinting control region 2 (IC2) on chromosome 11p15.5 is the commonest identifiable cause of Beckwith-Wiedemann Syndrome (BWS). IC2 is located in KCNQ1 intron 10 and is associated with Long QT syndrome (LQTS). A recent consensus statement on BWS1 recommends annual cardiac evaluation with electrocardiogram (ECG) in these patients. The natural history of LQTS secondary to hypomethylation at IC2 in BWS is...

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ESPE Abstracts

17OHP and cortisol day curve profiles for children using hard-capsule modified release hydrocortisone as compared with immediate release hydrocortisone.

Sudden Death in an Infant Attributed to Arrhythmia Associated with Beckwith-Wiedemann Syndrome due to Hypomethylation of Imprinting Control Region 2 on Chromosome 11p15.5

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