Article
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Mar 2013
Reisch Nicole, Idkowiak Jan, Hughes Beverly A, Ivison Hannah E, Abdul-Rahman Omar A, Hendon Laura G, Olney Ann Haskins, Nielsen Shelly, Harrison Rachel, Blair Edward M, Dhir Vivek, Krone Nils, Shackleton Cedric H L, Arlt Wiebke
Abstract excerpt
CONTEXT: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multiple skeletal...
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