Five patients with 11β-hydroxylase deficiency due to CYP11B1 gene mutation: A case study
10.3760/cma.j.cn311282-20220428-00269
- VernacularTitle:CYP11B1基因突变致11β-羟化酶缺陷症五例随访研究
- Author:
Haihua YANG
1
;
Yangshiyu LI
;
Qiong CHEN
;
Ai HUANG
;
Chang SU
;
Yongxing CHEN
;
Haiyan WEI
Author Information
1. 郑州大学附属儿童医院，河南省儿童医院郑州儿童医院，河南省儿童遗传代谢性疾病重点实验室 450000
- Keywords:
11β-hydroxylase deficiency;
CYP11B1 gene;
Chimeric CYP11B2/CYP11B1
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(1):34-41
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and molecular characteristics of 11β-hydroxylase deficiency(11β-OHD) to improve the understanding of this disorder.Methods:The clinical manifestation, hormone level, imaging examination, characteristics of gene variation and follow-up of five patients with 11β-OHD diagnosed in Henan Children′s Hospital from 2016 to 2021 were carefully reviewed.Results:Among the 5 children, 3 were male and 2 were female, all without positive family history. The age at diagnosis was 1 year 5 months to 7 years(average 3 years and 9 months), and the bone age was 3 years 6 months to 16 years(average 10 years and 3 months). Two cases were misdiagnosed as 21-hydroxylase deficiency(21-OHD) and treated with long-term mineralocorticoids. Three patients presented with hypertension and one patient had testicular adrenal rest tumor. Adrenal CT showed bilateral adrenal hyperplasia in five patients. ACTH, 17-hydroxyprogesterone, testosterone, and androstenedione levels were increased in 5 children, and hypokalemia occurred in 1 patient. One patient carried homozygous novel missense variant, and four patients had compound heterozygous variants. Four patients carried missence mutations, two patients had deletion and one patient harbored a chimeric CYP11B2 exon1-6/CYP11B1 exon7-9. Three novel CYP11B1 mutations, including c. 1385T>C(p.L462P), c.64C>T(p.Q22*)and c. 1354G>A(p.G452R) were identified. The final height of 2 male children were 164.4 cm and 150.2 cm, respectively, and the related hormone levels of the other 3 children were normal.Conclusion:11β-OHD is easily misdiagnosed, leading to severe impairment of final height. CYP11B1 gene variation is complex and diverse, which requires variety of gene detection methods.
