Visit Metagene.de!
Summary
AROMATASE EXCESS SYNDROME (AEXS)
AROMATASE ACTIVITY, INCREASED
139300
OMIM = Online Medalian Inheritance of Men
178346
15q21.2
very rare
autosomal dominant
Overexpression of CYP19A1
symptoms
bone age, advanced
gynecomastia
hypogonadism
onset, adolescent
onset, childhood
laboratory finding
Estrone urine
Literature
Smith AC,et al.A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9J Inherit Metab Dis002018
van der Meijden JC,et al.Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapyJ Inherit Metab Dis002018
Lau AA,Tamang SJ, Hemsley KMMPS-IIIA mice acquire autistic behaviours with ageJ Inherit Metab Dis002018
Del Mar Amador M,et al.Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomesJ Inherit Metab Dis002018
Nie X,et al.Sex-specific effects of N-acetylcysteine in neonatal rats treated with hypothermia after severe hypoxia-ischemiaNeurosci Res108024-332016
McAdams RM,Juul SENeonatal Encephalopathy: Update on Therapeutic Hypothermia and Other Novel TherapeuticsClin Perinatol433485-5002016