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. 2021 Feb 3;8(1):6.
doi: 10.1038/s41439-021-00138-w.

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

Moritake Higa  1 , Akiko Zaha  1 , Akiko Takushi  1 , Nami Morishima  1 , Toyofumi Majikina  1 , Takeshi Touma  1 , Michio Shimabukuro  1   2 , Hiroaki Masuzaki  3 , Misa Honda  4 , Tomonobu Hasegawa  5
Affiliations

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

Moritake Higa et al. Hum Genome Var. .

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.

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Conflict of interest statement

Tomonobu Hasegawa has the following financial relationships to disclose: research funding from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd.

Figures

Fig. 1
Fig. 1. Partial chromatogram of the STAR gene.
The left panel shows c.126_127delCCinsG in the proband as well as the wild type (A). The right panel shows c.634C>T in the proband (B).
See this image and copyright information in PMC

References

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