Endocrinology Medical News about Congenital Adrenal Hyperplasia

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Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency - Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q)
Hormone Research, 10/27/09

Krone N et al. – Results indicate that both novel mutations are disease–causing mutations. Proving the pathogenic effect of a missense sequence variation is of particular importance for clinical genetic counseling as this provides essential information on the prediction of recurrence risk and disease severity.

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Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency
Journal of Clinical Endocrinology and Metabolism, 10/12/09 Relevance Score: 82%

Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia
Experimental and Clinical Endocrinology & Diabetes, 11/02/09 Relevance Score: 81%

Varied Presentation of Congenital Adrenal Hyperplasia with 21 (OH) Deficiency
Journal of Anaesthesiology Clinical Pharmacology, 10/19/09 Relevance Score: 81%

Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006
Hormone Research, 10/27/09 Relevance Score: 80%

Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia
Hormone Research, 10/23/09 Relevance Score: 80%