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Background
Prevalence of hypertension and hypertension‐mediated organ damage (HMOD) had not been well studied in patients with 11β‐hydroxylase deficiency (11β‐OHD).
Objective
The study was to assess the prevalence and risk factors of hypertension and HMOD in patients with 11β‐OHD.
Design
Retrospective cohort analysis in a single medical centre.
Patients
Twenty‐eight patients with 11β‐OHD were...
CYP11B1 and CYP11B2 are highly homologous genes that can form chimera following unequal crossing-over during meiosis. A chimeric CYP11B1/CYP11B2 gene causes glucocorticoid-remediable aldosteronism (GRA), while the rare CYP11B2/CYP11B1 chimeric gene leads to 11β-hydroxylase deficiency (11-OHD). The aim of the study was to find the underlying genetic causes of three distinct Chinese pedigrees with 11-OHD...
Steroid 11β-hydroxylase deficiency (11β-OHD), one of common cause of congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder characterized by virilization, precocious pseudo-puberty, and hypertension. It is caused by CYP11B1 gene mutation. We performed molecular genetic analysis of the CYP11B1 gene in six patients with preliminary clinical diagnosis of 11β-OHD and four patients identified...
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