Correspondence Mitotane for 21-Hydroxylase Deficiency in an Infertile Man Published November 20, 2014 N Engl J Med 2014;371: 2042 - 2044 DOI: 10.1056/NEJMc1410041 ...

Yes, I do think we need non-glucocorticoid forms of therapy to treat 21-hydroxylase deficiency congenital adrenal hyperplasia.The most common form of congenital adrenal hyperplasia (CAH) is a ...

Their previous work has led to newborn screening in the U.S. and in many other countries for the most severe form of 21-hydroxylase deficiency, which involves gene mutations on chromosome 6.

Pre-pubertal gynaecomastia has been described in 11β- but not in 21-hydoxylase deficiency. An 8-yr old boy presented with bilateral 5 cm breast buds: P2 G2 Testes 2/2 ml; height 138.5 cm bone age ...

In the pediatrics study, 103 participants aged 4 to 17 years old with classic CAH due to 21-hydroxylase deficiency and inadequate androgen control on supraphysiological glucocorticoid doses were ...

The American College of Medical Genetics and Genomics has just published its highly anticipated Evidence-Based Clinical Guideline (EBG): “Phenylalanine Hydroxylase (PAH) Deficiency Diagnosis ...

Orlando, Florida — New data add to the evidence supporting use of crinecerfont for the treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, in both adults and ...

Study: Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Around 95% of cases are caused by a mutation that leads to a deficiency of the enzyme 21-hydroxylase, and there are currently no FDA-approved non-glucocorticoid treatments available.