单纯性生长激素缺乏Ⅰ型A(IGHD1A)是一种较少见的家族性遗传性侏儒症。1971年在瑞士首先报道,以后在许多国家相继都有发现。hGH和hCS基因组合成基因簇,目前已知有2个hGH基因和3个hCS基因。本型病人是由于生长激素结构基因hGH-N的缺陷所致,其临床较其他垂体性侏儒症另有特点,特异性的诊断依靠DNA分析,早期治疗反应良好,随着hGH抗体的产生,疗效减退乃至消失,但也存在个体差异。 Simple growth hormone deficiency type A (IGHD1A) is a rare familial hereditary dwarfism. First reported in Switzerland in 1971, and later found in many countries. The hGH and hCS genes are combined into a gene cluster, and two hGH genes and three hCS genes are known at present. This type of patient is due to the structural defect of hGH-N, which is characterized by its clinical features as compared with other pituitary dwarfism. The specific diagnosis depends on DNA analysis and the response to early treatment is good. With the production of hGH antibody, Diminished or even disappeared, but there are also individual differences.