一名患有经典型脂质先天性肾上腺皮质增生症和垂体激素联合缺乏症患者的新型STAR基因变异体。
Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.
作者信息
Higa Moritake, Zaha Akiko, Takushi Akiko, Morishima Nami, Majikina Toyofumi, Touma Takeshi, Shimabukuro Michio, Masuzaki Hiroaki, Honda Misa, Hasegawa Tomonobu
机构信息
Diabetes and Lifestyle-Related Disease Center, Tomishiro Central Hospital, Okinawa, Japan.
Department of Diabetes, Endocrinology, and Metabolism, Fukushima Medical University, Fukushima, Japan.
出版信息
Hum Genome Var. 2021 Feb 3;8(1):6. doi: 10.1038/s41439-021-00138-w.
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.Thr44Profs2 and an already reported variant of c.634C>T, namely, p.Gln212. The association with combined pituitary hormone deficiency might be just a coincidence.
我们报告了首例经典型类脂质性先天性肾上腺皮质增生症合并垂体激素缺乏症的病例。我们在STAR基因中鉴定出致病变异：一个新的c.126_127delCCinsG变异，即p.Thr44Profs2，以及一个已报道的c.634C>T变异，即p.Gln212。与垂体激素缺乏症合并存在可能只是一种巧合。
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