STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

@article{Camats2014STARSM,
  title={STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.},
  author={N{\'u}ria Camats and Amit V Pandey and M{\'o}nica Fern{\'a}ndez-Cancio and Juan Manuel Fern{\'a}ndez and A. Mariscal Ortega and Sameer Udhane and Pilar Andaluz and Laura Aud{\'i} and Christa E Fl{\"u}ck},
  journal={Clinical endocrinology},
  year={2014},
  volume={80 2},
  pages={
          191-9
        }
}
OBJECTIVE The steroidogenic acute regulatory protein (StAR) transports cholesterol to the mitochondria for steroidogenesis. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH) which is characterized by impaired synthesis of adrenal and gonadal steroids causing adrenal insufficiency, 46,XY disorder of sex development (DSD) and failure of pubertal development. Partial loss of StAR activity may cause adrenal insufficiency only. PATIENT A newborn girl was admitted for mild… CONTINUE READING
BETA

References

Publications referenced by this paper.
SHOWING 1-10 OF 38 REFERENCES

Similar Papers

Loading similar papers…