A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia

@inproceedings{Fu2017ACR,
  title={A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia},
  author={Rong Fu and Lin Lu and Jun Jiang and Min Nie and Xiaojing Wang and Zhaolin Lu},
  booktitle={Medicine},
  year={2017}
}
RATIONALE Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests… CONTINUE READING

Similar Papers

Citations

Publications citing this paper.

References

Publications referenced by this paper.
SHOWING 1-10 OF 15 REFERENCES

Identi fi cation of fi ve novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia

D Lin, T Sugawara, Strauss JFIII
  • Steroids
  • 2016