She came to attention in Switzerland at the age of 6 years due to facial acne without pubarche or axillary hair growth and advanced bone age (11 years). Hormonal diagnosis of non-classical 11β ...

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 ...

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 ...

Steroid 11β-hydroxylase deficiency affects only 5-8 percent of CAH patients, or 1 in 100,000 live births in the United States. The team collected data on 108 patients diagnosed with the 11β ...

The most common type of CAH is 21-hydroxylase deficiency 1; for the remainder of this review, CAH indicates CAH due to 21-hydroxylase deficiency. CAH is a disease of multiple hormonal imbalances.

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