A novel variant of <i>IGSF1</i> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups

DOI Web Site 参考文献16件
  • Yamamura Yoshiko
    Department of Pediatrics, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan
  • Fukami Maki
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
  • Matsuyama Misayo
    Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan
  • Sawada Hirotake
    Department of Fundamental Nursing, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

抄録

<p>Following the partial revision of the enforcement regulations of the School Health and Safety Act, school health checkups incorporated growth evaluation of schoolchildren in April 2016 using growth charts. We report cases of congenital central hypothyroidism (C-CH) in siblings with a novel nonsense variant in the immunoglobulin superfamily member 1 gene (IGSF1); their diagnoses were prompted by school health checkups. School checkups revealed that the older brother was overweight and had a reduced growth rate at the age of 11 yr, whereas the younger brother was overweight and had short stature at the age of 8 yr. They were diagnosed with C-CH because of normal thyroid-stimulating hormone (TSH) levels despite a low free thyroxine level and low TSH response in the thyrotropin-releasing hormone stress test. Only the older brother had prolactin deficiency and testicular growth without elevated testosterone levels. The siblings harbored a novel nonsense variant in exon 16 of IGSF1 (NM_001555.5: c.3056G>A: p.Trp1019Ter) and were diagnosed with IGSF1 deficiency. In Japan, C-CH may be overlooked because TSH-based newborn screening alone is usually performed for patients with congenital hypothyroidism. The implementation of growth monitoring using growth charts in school health checkups may prompt new C-CH diagnoses.</p>

収録刊行物

参考文献 (16)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ