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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number6
JournalHuman Genome Variation
Volume8
Issue number1
DOIs
Publication statusPublished - 2021 Dec

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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