Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency | Zendy

Nicole Reisch | Zendy; Jan Idkowiak | Zendy; Beverly Hughes | Zendy; Hannah E Ivison | Zendy; Omar AbdulRahman | Zendy; Laura G. Hendon | Zendy; Ann Haskins Olney | Zendy; Shelly Nielsen | Zendy; Rachel Harrison | Zendy; Edward Blair | Zendy; Vivek Dhir | Zendy; Nils Krone | Zendy; Cedric Shackleton | Zendy; Wiebke Arlt | Zendy

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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

Author(s) -

Nicole Reisch,

Jan Idkowiak,

Beverly Hughes,

Hannah E Ivison,

Omar AbdulRahman,

Laura G. Hendon,

Ann Haskins Olney,

Shelly Nielsen,

Rachel Harrison,

Edward Blair,

Vivek Dhir,

Nils Krone,

Cedric Shackleton,

Wiebke Arlt

Publication year - 2013

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-3449

Subject(s) - congenital adrenal hyperplasia , virilization , medicine , endocrinology , pregnancy , estriol , fetus , androgen excess , androgen , biology , polycystic ovary , diabetes mellitus , estrogen , hormone , genetics , insulin resistance

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 malformations.

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