Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

@article{Sahakitrungruang2010ClinicalGA,
  title={Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).},
  author={Taninee Sahakitrungruang and Raymond E. Soccio and M Lang-uritano and Joanna M. Walker and John C Achermann and Walter L. Miller},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2010},
  volume={95 7},
  pages={
          3352-9
        }
}
CONTEXT Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function. Affected individuals can present with a phenotype of late onset adrenal insufficiency with only mild or minimally disordered sexual development. OBJECTIVES The aim was to delineate the clinical spectrum of StAR mutations and correlate phenotype with StAR activity. PATIENTS Four patients… CONTINUE READING

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