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.

In this study, we report on three Japanese patients with cytochrome P450 oxidoreductase (POR) deficiency (PORD). Case one was a 46,XY patient who was found to have mildly increased 17α ...

THIS report is concerned with the delineation and biochemical demonstration of a clinical syndrome first manifest in the adult woman and resulting from an 11β-hydroxylase deficiency in the ...

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, which ...

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 ...

By Dr. Priyom Bose, Ph.D. Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and ...