Related Experiment Video
Updated: Aug 20, 2026

Establishment of Zone-Enriched Primary Cultures from the Mouse Adrenal Cortex
Published on: May 8, 2026
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency
Shu-Hua Chang1, Hsien-Hsiung Lee, Pen-Jung Wang
1Department of Pediatrics, Buddhist Tzu-Chi General Hospital, Hualien, Taiwan.
Abstract:
A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally misdiagnosed as 21-hydroxylase deficiency. Hypertension and hypokalemia complicated with seizures and arrhythmia developed in this 9-year-old girl after abrupt withdrawal of oral dexamethasone but maintenance of fludrocortisone. Suspicion of 11 beta-hydroxylase deficiency led to DNA mutation analysis, which revealed a novel point mutation (CTG 461 CCG) in the CYP11B1 gene converting leucine to proline. Her condition stabilized rapidly after withdrawal of fludrocortisone and administration of hydrocortisone. Regular measurement of blood pressure should be performed in all patients with CAH and test of serum 11-deoxycortisol or deoxycorticosterone level should be performed in those patients with elevated blood pressure to avoid misdiagnosis of 11 beta-hydroxylase deficiency.
Related Concept Videos
Cushing Syndrome II: Pathophysiology
Cushing Syndrome I: Introduction
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Huntington Disease l: Introduction
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Type I Diabetes I: Introduction

