Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort | Zendy

Nils Krone | Zendy; Ian T. Rose | Zendy; Debbie Willis | Zendy; James Hodson | Zendy; Sarah H. Wild | Zendy; Emma J. Doherty | Zendy; Stefanie Hahner | Zendy; Silvia Parajes | Zendy; Roland H. Stimson | Zendy; Thang S. Han | Zendy; Paul Carroll | Zendy; Gerry Conway | Zendy; Brian R. Walker | Zendy; Fiona MacDonald | Zendy; Richard Ross | Zendy; Wiebke Arlt | Zendy

Open Access

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort

Author(s) -

Nils Krone,

Ian T. Rose,

Debbie Willis,

James Hodson,

Sarah H. Wild,

Emma J. Doherty,

Stefanie Hahner,

Silvia Parajes,

Roland H. Stimson,

Thang S. Han,

Paul Carroll,

Gerry Conway,

Brian R. Walker,

Fiona MacDonald,

Richard Ross,

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.2012-3343

Subject(s) - congenital adrenal hyperplasia , fludrocortisone , genotype , 21 hydroxylase , medicine , endocrinology , context (archaeology) , allele , cohort , glucocorticoid , genetics , biology , hydrocortisone , paleontology , gene

In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking.

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