解放军医学院学报Issue(11)：1138-1142,5.DOI:10.3969/j.issn.2095-5227.2015.11.021
非经典型21-羟化酶缺乏症1例基因分析并文献复习
Non-classical 21-hydroxylase deficiency：A case report with gene analysis and literature review
哈斯 1陈康 1刘金河 1李萍 1杨国庆 1汪保安 1王双双 1窦京涛 1母义明1
作者信息
- 1. 解放军总医院 内分泌科，北京 100853
- 折叠
摘要
Abstract
Objective To study the clinical features and gene mutations of non-classical 21-hydroxylase deficiency. Methods One case diagnosed with non-classical 21-hydroxylase deficiency with a nodule in adrenal gland in our hospital in 2014 was enrolled in this study. The clinical characteristics, diagnosis, treatment and gene analysis were reported and its related literatures were reviewed.Results The patient had menstrual disorder. Physical examination showed abnormal habitus, obesity, mild virilizing and clitorism. Radiological imaging demonstrated a nodule in her left adrenal gland. Hormonal examinations found that the patient had high androgen hematic disease and hyperinsulinemia, elevated 17- hydroxyprogesterone and testosterone level, and moderate dose dexamethasone inhibited 17-hydroxyprogesterone and testosterone. Her brother was short stature and her daughter had clitorism. All clinical manifestation mentioned above supported congenital adrenal cortex hyperplasia: non-classical 21-hydroxylase deficiency. Sequencing analysis reviewed that the patient and her daughter had the common mutation of CYP21A2 (P030L, I172N et al.). Conclusion Non-classical 21-hydroxylase deficiency is frequently misdiagnosed and 17-hydroxyprogesterone should be a routine screening in patients with a nodule in adrenal gland or hyperplasia. Parental genetic mutations can pass on to their offspring, so clinicians should pay attention to the offspring in the diagnosis and treatment of non-classical 21-hydroxylase deficiency, which can help with early detection and treatment of this disease.关键词
先天性肾上腺皮质增生/非经典型21羟化酶缺乏/CYP21A2基因/基因突变Key words
congenital adrenal hyperplasia/non-classical 21-hydroxylase deficiency/CYP21A2 gene/gene mutation分类
医药卫生引用本文复制引用
哈斯,陈康,刘金河,李萍,杨国庆,汪保安,王双双,窦京涛,母义明..非经典型21-羟化酶缺乏症1例基因分析并文献复习[J].解放军医学院学报,2015,(11):1138-1142,5.
