Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands.
Department of Clinical Genetics; University of Amsterdam, Amsterdam, The Netherlands.
Thyroid. 2022 Apr;32(4):472-474. doi: 10.1089/thy.2021.0651.
Pathogenic variants in are known to cause severe isolated central congenital hypothyroidism (CH). In this study, we present the clinical, biochemical, and genetic features of the first patient with a mild central CH phenotype. We identified a novel homozygous variant in : (Chr1: NM_000549.5):c.290A>G p.(Tyr97Cys) in a newborn girl detected by neonatal CH screening, whose central CH was initially overlooked because of misinterpretation of her plasma-free thyroxine (fT4) concentration. This report adds to the phenotypic spectrum of variants and underlines the importance of using age-specific fT4 reference intervals to diagnose central CH.
已知 中的致病性变异可导致严重孤立性中枢性先天性甲状腺功能减退症（CH）。在这项研究中，我们介绍了首例具有轻度中枢 CH 表型的患者的临床、生化和遗传特征。我们通过新生儿 CH 筛查发现了一名新生女婴携带一种新型纯合变异：（Chr1：NM_000549.5）：c.290A>G p.（Tyr97Cys），由于对其血浆游离甲状腺素（fT4）浓度的错误解读，最初忽略了她的中枢性 CH。本报告增加了 变异的表型谱，并强调了使用特定年龄的 fT4 参考区间来诊断中枢性 CH 的重要性。
