Related Experiment Video
Updated: Aug 19, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[11beta-hydroxylase deficiency]
Maricilda Palandi Mello1, Junia Yara Penachioni, Fernando C do Amaral
1Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP. mmello@unicamp.br
Abstract:
Congenital adrenal hyperplasia due to 11beta-hydroxylase enzyme deficiency is a result of the impairment of 11-deoxycortisol to cortisol conversion. In general, it is responsible for less than 5% of the congenital adrenal hyperplasia cases. The clinical expression of androgen excess in females includes several degrees of genital ambiguity, varying from clitoromegaly to complete virilization. Due to the accumulation of mineralocorticoids, approximately 50% of the patients develop blood hypertension. Mutations in the CYP11B1 gene are responsible for the disease. Biochemical and molecular characteristics of the enzyme and their implications in the clinical presentation of 11beta-hydroxylase deficiency are reviewed here.
Related Concept Videos
Inborn Errors of Metabolism
Huntington Disease l: Introduction
Pedigree Analysis
Type I Diabetes III: Clinical Manifestations
Type I Diabetes II: Pathophysiology
Type I Diabetes I: Introduction
