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.

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 ...

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 ...

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

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 ...