Human Genome Variation (Feb 2021)

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

  • Moritake Higa,
  • Akiko Zaha,
  • Akiko Takushi,
  • Nami Morishima,
  • Toyofumi Majikina,
  • Takeshi Touma,
  • Michio Shimabukuro,
  • Hiroaki Masuzaki,
  • Misa Honda,
  • Tomonobu Hasegawa

DOI
https://doi.org/10.1038/s41439-021-00138-w
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 4

Abstract

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Abstract We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.