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hrp0095p1-110 | Growth and Syndromes | ESPE2022

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

Cottrell Emily , V. Maharaj Avinaash , Triggs-Raine Barbara , Thanasupawat Thatchawan , Williams Jack , Fujimoto Masanobu , A. Metherell Louise , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Mutations in HMGA2 have recently been identified causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective:...

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hrp0095p1-6 | Adrenals and HPA Axis | ESPE2022

Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children

A. Musa Salwa , A. Abdullah Mohamed , S. Hassan Samar , Qamar Younus , Hall Charlotte , Maitra Saptarshi , V Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , Smith Christopher , F Chan Li , A Metherell Louise

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

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ESPE Abstracts

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children

BiosciAbstracts