نتایج جستجو برای: hydroxylase adrenal hyperplasia

تعداد نتایج: 99554  

Journal: :Paediatrica Indonesiana 2021

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder commonly caused by mutation of the CYP21A2 gene, resulting in deficiency enzyme required for cortisol synthesis cortex. In 90-95% cases, deficient 21-hydroxylase (21-OH), with incidence ranging from 1 5,000 to 15,000 live births across various ethnic and racial backgrounds. classical 21-OH (21-OHD) CAH, excessive androgen e...

Journal: :Proceedings of The Japanese Association of Animal Models for Human Diseases 1991

2015
Roseane Lopes da Silva-Grecco Débora de Paula Michelatto Carolina Rodrigues Lincoln-de-Carvalho Pamela Pontes Henrique Heloísa Marcelina da Cunha Maricilda Palandi-de-Mello

Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturatio...

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