Endocrinology Medical News about Congenital Adrenal Hyperplasia

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

Metherell LA et al. – Mutations in STAR usually cause lipoid congenital adrenal hyperplasia, a disorder characterized by both gonadal and adrenal steroid deficiency. The results demonstrate that certain mutations in STAR (R192C and the previously reported R188C) can present with a phenotype indistinguishable from that seen in FGD.

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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%

Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency - Insights from Two Novel CYP11B1 Mutations (p.M92X, p.R453Q)
Hormone Research, 10/27/09 Relevance Score: 80%

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%