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Endocrine Abstracts

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ea0021oc3.5 | Young Endocrinologists prize session | SFEBES2009

A multisystem selenoprotein disorder with a thyroid signature

Schoenmakers Nadia , Schoenmakers Erik , Agostini Maura , Mitchell Catherine , Papp Laura , Rajanayagam Odelia , Padidela Raja , Doffinger Rainer , Luan Jian'an , Lu Jun , Campi Irene , Burton Hannah , Muntoni Francesco , O' Donovan Dominic , Dean Andrew , Warren Anne , Guicheney Pascale , Fitzgerald Rebecca , Coles Alasdair , Gaston Hill , Holmgren Arne , Cooke Marcus S , Halsall David , Wareham Nicholas , Beck-Peccoz Paolo , Ogunko Arthur , Dattani Mehul , Gurnell Mark , Chatterjee Krishna

Selenocysteine insertion sequence-binding protein 2 (SECISBP2) mediates translational incorporation of selenocysteine into 25 known human selenoproteins, including iodothyronine deiodinases. Two unrelated male subjects, aged 36 years (P1) and 3.6 years (P2), exhibited markedly elevated free thyroxine (fT4), normal/low free triiodothyronine (fT3), but normal thyrotropin (TSH) levels, indicating reduced T4 to T3 conversion:<table b...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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