Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common form of CAH.

Thus, he was initially diagnosed as having nonclassical 21-hydroxylase deficiency (21-OHD ... through three were homozygous for R457H at exon 11. This mutation should create a BsaXI restriction ...

Sufficient 11-oxygenated 17-ketosteroids were found ... being the one most commonly encountered. An 11β-hydroxylase deficiency is uncommon and a 3β-ol dehydrogenase deficiency is probably ...

A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international ...

Researchers at the Icahn School of Medicine at Mt. Sinai have developed a clinical and genetic profile of steroid 11-hydroxylase deficiency, a rare form of congenital adrenal hyperplasia ...

A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international ...

Turcu AF, Nanba AT, Chomic R, et al. Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency. Eur J Endocrinol 2016;174:601-609. Crossref ...

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...