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:10.1038/s41439-021-00138-w

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

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

Authors

Affiliations

¹ Diabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
² Department of Diabetes, Endocrinology, and Metabolism, Fukushima Medical University, Fukushima, Japan.
³ Division of Endocrinology, Diabetes and Metabolism, Hematology, Rheumatology, Department of Medicine, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.
⁴ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
⁵ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. thaseg@keio.jp.

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.