| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2025-03-28 |
| タイトル |
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タイトル |
A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups |
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言語 |
en |
| 言語 |
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言語 |
eng |
| キーワード |
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言語 |
en |
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キーワード |
congenital central hypothyroidism |
| キーワード |
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言語 |
en |
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キーワード |
immunoglobulin superfamily 1 |
| キーワード |
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言語 |
en |
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キーワード |
prolactin |
| 資源タイプ |
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資源タイプ |
journal article |
| アクセス権 |
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アクセス権 |
open access |
| 著者 |
Yamamura, Yoshiko
Fukami, Maki
Matsuyama, Misayo
澤田, 浩武
WEKO
28892
e-Rad_Researcher
40332895
| ja |
澤田, 浩武
宮崎大学
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| ja-Kana |
サワダ, ヒロタケ
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| en |
Sawada, Hirotake
University of Miyazaki
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Search repository
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| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
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. |
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言語 |
en |
| 内容記述 |
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内容記述タイプ |
Other |
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内容記述 |
Citation: Yoshiko Yamamura, Maki Fukami, Misayo Matsuyama, Hirotake Sawada, A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups. Clinical Pediatric Endocrinology. 2024, 33(1), 17-22, https://doi.org/10.1297/cpe.2023-0046 |
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言語 |
en |
| bibliographic_information |
en : Clinical Pediatric Endocrinology
巻 33,
号 1,
p. 17-22,
発行日 2024
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| 出版者 |
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出版者 |
Japanese Society for Pediatric Endocrinology |
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言語 |
en |
| ISSN |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
0918-5739 |
| ISSN |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
1347-7358 |
| item_10001_relation_14 |
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関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1297/cpe.2023-0046 |
| 権利 |
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権利情報 |
© 2024 by The Japanese Society for Pediatric Endocrinology |
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言語 |
en |
| 出版タイプ |
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出版タイプ |
VoR |
article (2.5 MB)
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