家族性生长激素缺乏症的诊断思路

Diagnostic strategies in familial growth hormone deficiency

家族性生长激素缺乏症是由遗传基因变异引起的,可分为常染色体隐性遗传、常染色体显性遗传、X染色体隐性遗传等模式。仔细采集病史、明确临床表型、合理应用分子生物学方法进行基因学诊断是明确遗传类型及找到相关突变基因的关键。

Familial growth hormone deficiency is caused by genetic mutations and has three inherited modes： autosomalrecessive, autosomal dominant and X-linked recessive. Genetic diagnosis is based on detailed history, a clear clinicalphenotype and rational application of molecular biology methods.