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

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.

SUBMITTER: Higa M

PROVIDER: S-EPMC7859387 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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

Higa Moritake M Zaha Akiko A Takushi Akiko A Morishima Nami N Majikina Toyofumi T Touma Takeshi T Shimabukuro Michio M Masuzaki Hiroaki H Honda Misa M Hasegawa Tomonobu T

Human genome variation 20210203 1

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. ...[more]

PMID: 33536409

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