A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1) | Zendy

Silvia Parajes | Zendy; Clemens Kamrath | Zendy; Ian T. Rose | Zendy; Angela E. Taylor | Zendy; Christiaan F. Mooij | Zendy; Vivek Dhir | Zendy; Joachim Grötzinger | Zendy; Wiebke Arlt | Zendy; Nils Krone | Zendy

Open Access

A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1)

Author(s) -

Silvia Parajes,

Clemens Kamrath,

Ian T. Rose,

Angela E. Taylor,

Christiaan F. Mooij,

Vivek Dhir,

Joachim Grötzinger,

Wiebke Arlt,

Nils Krone

Publication year - 2011

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.2011-1277

Subject(s) - cholesterol side chain cleavage enzyme , missense mutation , adrenal insufficiency , pregnenolone , phenotype , mutation , genotype , medicine , biology , endocrinology , genetics , gene , messenger rna , hormone , steroid

Cytochrome P450 side-chain cleavage enzyme (CYP11A1) facilitates the first and rate-limiting step of steroidogenesis. Only nine patients with CYP11A1 deficiency have been described. All patients presented with adrenal insufficiency (AI) and disorder of sex development in 46,XY individuals.

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