Endocrinology Medical News about Congenital Adrenal Hypoplasia

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X-Linked Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism Caused by an Inversion Disrupting a Conserved Noncoding Element Upstream of the NR0B1 (DAX1) Gene
Journal of Clinical Endocrinology and Metabolism, 10/07/09

Skinningsrud B et al. – The authors report a noncoding mutation causing AHCH, an inversion resulting in a phenotype similar to what is caused by intragenic NR0B1 null mutations. The inversion seems to disrupt and/or relocate regulatory sites crucial in DAX1 expression.

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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%