Urology Medical News about adrenal hyperplasia

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Genetics of congenital adrenal hyperplasia
Best Practice & Research Clinical Endocrinology & Metabolism, 06/17/09

Krone N et al. - Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1–CYP21A2 deficiency. P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant: skeletal malformations and severe genital ambiguity in both sexes.

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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: 68%

Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia
Experimental and Clinical Endocrinology & Diabetes, 11/02/09 Relevance Score: 67%

Varied Presentation of Congenital Adrenal Hyperplasia with 21 (OH) Deficiency
Journal of Anaesthesiology Clinical Pharmacology, 10/19/09 Relevance Score: 67%

Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006
Hormone Research, 10/27/09 Relevance Score: 66%

Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia
Hormone Research, 10/23/09 Relevance Score: 66%