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ea0021p231 | Growth and development | SFEBES2009

Phenotypic presentation of P450 oxidoreductase deficiency during puberty

Idkowiak Jan , O'Riordan Stephen , Reisch Nicole , Dhir Vivek , Malunowicz Ewa , Kerstens Michiel , Maiter Dominique , Collines Felicity , Silink Martin , Dattani Mehul , Shackleton Cedric , Krone Nils , Arlt Wiebke

P450 oxidoreductase (POR) transfers electrons to all microsomal P450 enzymes including CYP21A2 and CYP17A1, key enzymes of glucocorticoid and andogen synthesis, respectively. Mutant POR results P450 oxidoreductase deficiency (ORD) manifesting with glucocorticoid deficiency and disordered sex development in both sexes. Neonatal presentation with undervirilisation in boys and virilisation in girls is well described. However, there is a paucity of data on the pubertal phenotype i...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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