Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency | Zendy

Jan Idkowiak | Zendy; Stephen O’Riordan | Zendy; Nicole Reisch | Zendy; E Małunowicz | Zendy; Felicity Collins | Zendy; Michiel N. Kerstens | Zendy; Birgit Köhler | Zendy; Luitgard GraulNeumann | Zendy; Maria SzarrasCzapnik | Zendy; Mehul Dattani | Zendy; Martin Silink | Zendy; Cedric Shackleton | Zendy; Dominique Maiter | Zendy; Nils Krone | Zendy; Wiebke Arlt | Zendy

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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Author(s) -

Jan Idkowiak,

Stephen O’Riordan,

Nicole Reisch,

E Małunowicz,

Felicity Collins,

Michiel N. Kerstens,

Birgit Köhler,

Luitgard GraulNeumann,

Maria SzarrasCzapnik,

Mehul Dattani,

Martin Silink,

Cedric Shackleton,

Dominique Maiter,

Nils Krone,

Wiebke Arlt

Publication year - 2010

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.2010-1607

Subject(s) - congenital adrenal hyperplasia , medicine , endocrinology , cyp17a1 , 21 hydroxylase , aminoglutethimide , aromatase , glucocorticoid , sex steroid , delayed puberty , adrenal insufficiency , biology , hormone , enzyme , steroid , biochemistry , cancer , breast cancer

P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency.

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