Congenital lipoid adrenocortical hyperplasia caused by a new STAR gene mutation:A case report

LIU Yuting, LI Guangxu, PAN Xiang

Chinese Journal of Child Health Care ›› 2023, Vol. 31 ›› Issue (8) : 920-923.

PDF(2203 KB)
PDF(2203 KB)
Chinese Journal of Child Health Care ›› 2023, Vol. 31 ›› Issue (8) : 920-923. DOI: 10.11852/zgetbjzz2023-0092

Congenital lipoid adrenocortical hyperplasia caused by a new STAR gene mutation:A case report

  • LIU Yuting, LI Guangxu, PAN Xiang
Author information +
History +

Cite this article

Download Citations
LIU Yuting, LI Guangxu, PAN Xiang. Congenital lipoid adrenocortical hyperplasia caused by a new STAR gene mutation:A case report[J]. Chinese Journal of Child Health Care. 2023, 31(8): 920-923 https://doi.org/10.11852/zgetbjzz2023-0092

References

[1] 荣柳萍. 先天性类脂质性肾上腺增生症的研究进展[J]. 海南医学,2022,33(16):2153-2157.
Rong LP.Research progress of congenital lipoid adrenal hyperplasia[J].Hainan Med J,2022,33(16):2153-2157.(in Chinese)
[2] 修文龙,苏跃青,杨长仪. 类固醇生成急性调控蛋白基因突变致新生儿先天性类脂质性肾上腺增生症的临床特点及分子遗传学分析[J]. 中华围产医学杂志,2020,23(1):18-24.
Xiu WL,Su YQ,Yang CY.Clinical characteristics and molecular genetic analysis of neonatal congenital lipidoid adrenal hyperplasia caused by mutation of acute regulatory protein gene of steroidogenesis[J].Chin J Perinat Med,2020,23(1):18-24.(in Chinese)
[3] 陈瑞敏,袁欣,张莹,等. 先天性类脂质性肾上腺增生症一核心家庭类固醇急性调控蛋白基因突变分析[J]. 中华内分泌代谢杂志,2014,30(11):980-984.
Chen RM,Yuan X,Zhang Y,et al.Genetic mutation analysis of acute steroid regulatory protein in a nuclear family in congenital lipidoid adrenal hyperplasia[J].Chin J Endocrinol Metab,2014,30(11):980-984.(in Chinese)
[4] 邱文娟,叶军,韩蓓,等. 先天性类脂质性肾上腺增生症分子遗传学分析[J]. 中华儿科杂志,2014,42(8):585-588.
Qiu WJ,Ye J,Han B,et al.Molecular genetic analysis of congenital lipidoid adrenal hyperplasia[J].Chin J Pediatr,2014,30(11):585-588.(in Chinese)
[5] 皮亚雷,张亚男,崇禾萌,等. 先天性类脂质性肾上腺增生症临床及StAR基因突变分析[J]. 河北医科大学报,2018,39(6):684-687.
Pi YL,Zhang YN,Chong HM,et al.Clinical analysis of congenital lipidoid adrenal hyperplasia and StAR gene mutation[J].J Hebei Med Univ,2018,39(6):684-687.(in Chinese)
[6] 陈永兴,陈琼,崔岩,等. 先天性类脂质性肾上腺增生症2例临床特点及分子遗传学研究[J]. 中华实用儿科临床杂志,2018,33(20):1592-1594.
Chen YX,Chen Q,Chui Y,et al.Clinical characteristics and molecular genetics of 2 cases of congenital lipidoid adrenal hyperplasia[J]. Chin J Appl Clin Pediatr,2018,33(20):1592-1594.(in Chinese)
[7] Richards S, Aziz N, Bale S, et al.Standards and guidelines for the interpretation of sequence variants:A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015,17(5):405-424.
[8] Kim CJ. Congenital lipoid adrenal hyperplasia[J]. AnnPediatr Endocrinol Metab, 2014, 19(4):179-183.
[9] Zhang T, Ma X, Wang J,et al. Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia[J].J Steroid Biochem Mol Biol,2021206:105788.
[10] Subki SH, Hussain RWM, Al-Agha AE. Congenital lipoid adrenal hyperplasia in a Saudi infant[J].J Diabetes Investig, 2022, 2022(1). doi:10.1530/EDM-22-0294
[11] Lu W, Zhang T, Zhang L,et al. Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review[J].Front Endocrinol (Lausanne),202213:947762.
[12] Buonocore F, Achermann JC. Primary adrenal insufficiency: New genetic causes and their long-term consequences[J]. Clinical endocrinology, 2020, 92(1):11-20.
PDF(2203 KB)

Accesses

Citation

Detail

Sections
Recommended

/