CASE REPORT article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1588262
This article is part of the Research TopicImproving Outcomes in Paediatric DiabetesView all articles
Case report: A case of permanent neonatal diabetes mellitus caused by a novel c.71C>A(p.Ala24Asp) variant in the INS gene
Provisionally accepted
Yangna Su1
Qing Tang1
Lili Zhao1
Yanting Shu1
Jing Zhang1Shuqing Tang1Huimin Wang1Yuan Xu1Ling Jin1*Houdi Zhou2*- 1Department of Neonatology，University Town Hospital of Chongqing Medical University, Chongqing, China
- 2Endocrinology Center, University Town Hospital affiliated to Chongqing Medical University, Chongqing, China
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This case report presents a small-for-gestational-age infant whose mother was diagnosed with gestational diabetes during pregnancy. Shortly after birth, the child exhibited symptoms of elevated blood glucose levels and polyuria. Following comprehensive examination and genetic testing, the condition was ultimately identified as permanent neonatal diabetes mellitus type 4, attributed to a novel c.71C>A (p.Ala24Asp) variant in the INS gene. The significance of this case report lies in its rarity, providing valuable insights for further exploration into the pathogenesis of permanent neonatal diabetes.
Keywords: Permanent neonatal diabetes mellitus, INS, IUGR (Intrauterine Growth Restriction), blood glucose (BG), Insulin
Received: 05 Mar 2025; Accepted: 01 May 2025.
Copyright: © 2025 Su, Tang, Zhao, Shu, Zhang, Tang, Wang, Xu, Jin and Zhou. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ling Jin, Department of Neonatology，University Town Hospital of Chongqing Medical University, Chongqing, China
Houdi Zhou, Endocrinology Center, University Town Hospital affiliated to Chongqing Medical University, Chongqing, China
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