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目的:盐丢失性先天性肾上腺增生(CAH)所引起的肾上腺危象,尤其好发于出生后2周内。本文研究的3 例患儿,于出生后6-8个月龄时发生肾上腺危象,出现婴儿猝死综合征(SIDS)的临床表现,但未导致患儿死亡。受试对象:3名女婴于出生后6-8个月时,发生肾上腺危象,并表现出生命垂危状态,其基因型均为46XY;患儿罹患先天性肾上腺脂质增生(lipoid CAH), 但其体内类固醇激素含量并未表现出相应的改变。方法:某些基因可能会导致机体呈现一种特定的表现型, 机体可以合成由类固醇产生的急性调节蛋白(StAR)、胆固醇侧链裂解酶、肾上腺皮质硫化铁蛋白还原酶、皮质硫化铁蛋白及由类固醇合成的因子1(SF1)等活性物质;我们对上述基因进行序列分析。利用定点突变和功能检验法,对基因错义突变进行研究。结果:通过激素水平检验发现,患儿体内肾上腺类固醇和性腺类同醇完全缺失。第1例患儿,发生R140P错义突变,为复合型杂合子;StAR基因序列中发生mRNA连接供位突变。值得
PURPOSE: Adrenal crisis caused by loss of salt congenital adrenal hyperplasia (CAH), especially in 2 weeks after birth. The three children studied in this study developed adrenal crisis at 6-8 months of age and showed the clinical manifestations of sudden infant death syndrome (SIDS), but did not cause death in children. Subjects: 3 female infants 6-8 months after birth, adrenal crisis occurred, and showed a dying condition, the genotype were 46XY; children suffering from congenital adrenal lipid hyperplasia (lipoid CAH) , But its body steroid hormone content did not show the corresponding change. Methods: Some genes may cause the body to show a specific phenotype. The body can synthesize steroid-producing acute regulatory protein (StAR), cholesterol side chain lyase, adrenocortical feruloxin reductase, cortical ferritin and Synthesis of steroid-based factor 1 (SF1) and other active substances; we sequence analysis of the above genes. The use of site-directed mutagenesis and functional tests to study the gene missense mutation. Results: Hormone level test found that children with adrenal steroid and gonadal alcohol completely lost. The first case of children, R140P missense mutation occurs, as a complex heterozygote; StAR gene sequence in the occurrence of mRNA connection mutation. worth it