Abstract: ［Abstract］ Objective〖HTSS〗〓To analyze the clinical features and steroidogenic acute regulatory protein （StAR） gene mutation in children with lipoid congenital adrenal hyperplasia.
〖HTH〗〖WTHZ〗Methods〖HTSS〗〓The clinical data of 2 children with lipoid congenital adrenal hyperplasia were collected in detail. Two milliliters venous blood of the children and their parents were collected and the exons and adjacent introns of 44 adrenal cortical dysfunction related genes of the 2 children were detected by second generation sequencing. The detected StAR gene mutation was confirmed by sanger sequencing. The StAR gene of children's parents was verified and analyzed.Literatures related to StAR gene mutation were reviewed.
〖HTH〗〖WTHZ〗Results〖HTSS〗〓Both the 2 cases were 46XX females and neonatal onset. The main symptoms were skin pigmentation, vomiting and no weight gain; Laboratory examination showed hyponatremia and hyperkalemia, elevated adrenocorticotrophic hormone  levels, decreased serum cortisol and 17 hydroxyprogesterone and androgens levels. The growth were normal after hydrocortisone and 9αfluorocortisone replacement therapy. There were no special events in the maternal pregnancy history or the childern′s birth history as well as family history. StAR gene analysis showed that case 1 was c.229G>A(p.Q77X ) and c.772G>A(p.Q258X ) compound heterozygous mutation. Case 2 was c.707_708delAG ins CTT（p.K236Tfs*47）homozygous mutation. All are known pathogenic mutations. Both parents were mutated carriers. Together with the reported 13 cases of StAR gene mutation in China, the incidence of c.772G>A（p.Q258X）and c.707_708delAG ins CTT（p.K236Tfs*47）mutation were 53.3%(8/15) and 33.3% (5/15) respectively.
〖HTH〗〖WTHZ〗Conclusion〖HTSS〗〓The chromosome and StAR gene should be detected in patients with primary adrenocortical dysfunction with low 17 hydroxyprogesterone and androgens, especially in female phenotypes. The mutation of c.772G>A( p.Q258X ) and c.707_708delAG ins CTT（p.K236Tfs*47） may be the hot spots of StAR gene mutation in China. Children with lipoid congenital adrenal hyperplasia  can survive for a long time and grow normally after appropriate corticosteroid replacement therapy.

Key words:  sdrenal hyperplasia, congenital； StAR gene, mutation