Wang K, Zheng J, Gu LC, Li RR, Su XD, Bai J, Liao L. Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature. World J Diabetes 2026; 17(1): 113821 [DOI: 10.4239/wjd.v17.i1.113821]
Corresponding Author of This Article
Xu-Dong Su, Department of Endocrinology and Metabology, Liaocheng People’s Hospital, No. 67 Dongchang West Road, Liaocheng 252000, Shandong Province, China. sxd0080@sina.com
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Endocrinology & Metabolism
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Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Jan 15, 2026 (publication date) through Jan 14, 2026
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World Journal of Diabetes
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1948-9358
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Wang K, Zheng J, Gu LC, Li RR, Su XD, Bai J, Liao L. Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature. World J Diabetes 2026; 17(1): 113821 [DOI: 10.4239/wjd.v17.i1.113821]
World J Diabetes. Jan 15, 2026; 17(1): 113821 Published online Jan 15, 2026. doi: 10.4239/wjd.v17.i1.113821
Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature
Kun Wang, Juan Zheng, Long-Chao Gu, Rong-Rong Li, Xu-Dong Su, Jie Bai, Lin Liao
Kun Wang, Xu-Dong Su, Jie Bai, Department of Endocrinology and Metabology, Liaocheng People’s Hospital, Liaocheng 252000, Shandong Province, China
Juan Zheng, Long-Chao Gu, Rong-Rong Li, Joint Laboratory for Translational Medicine Research, Liaocheng People’s Hospital, Liaocheng 252000, Shandong Province, China
Lin Liao, Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University, Shandong Provincial Qianfoshan Hospital, Jinan 250000, Shandong Province, China
Co-first authors: Kun Wang and Juan Zheng.
Co-corresponding authors: Xu-Dong Su and Jie Bai.
Author contributions: Wang K and Zheng J contributed to manuscript writing and editing, data collection, and they contributed equally to this manuscript and are co-first authors; Gu LC and Li RR contributed to data analysis; Su XD, Bai J, and Liao L contributed to conceptualization and supervision; Su XD and Bai J contributed equally to this manuscript and are co-corresponding authors. All authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xu-Dong Su, Department of Endocrinology and Metabology, Liaocheng People’s Hospital, No. 67 Dongchang West Road, Liaocheng 252000, Shandong Province, China. sxd0080@sina.com
Received: September 4, 2025 Revised: October 26, 2025 Accepted: December 3, 2025 Published online: January 15, 2026 Processing time: 132 Days and 16.1 Hours
Abstract
BACKGROUND
Rabson-Mendenhall syndrome (RMS) is an extremely rare monogenic form of diabetes caused by mutations in the insulin receptor (INSR) gene, with only about 50 cases reported worldwide to date. Here, we report a case of RMS caused by a previously unreported c.1123+2 T>C splice mutation.
CASE SUMMARY
The patient was diagnosed with acanthosis nigricans and hypertrichosis at birth, and the growth rate was slower than that of normal children. At age 5, the patient had severe hyperinsulinemia, congenital heart abnormalities, and pineal cysts. At age 13, he was diagnosed with diabetes and exhibited symptoms of hyperinsulinemia, low body weight, growth retardation, acanthosis nigricans, dental anomalies, an oversized penis, and a pineal cyst. Sequencing results indicated an INSR c.1123+2 T>C mutation, and bioinformatic analysis suggested that this mutation led to splicing abnormalities, thereby affecting INSR function. Both parents carried the mutated gene, whereas his brother had a normal genotype.
CONCLUSION
Genetic diagnosis is vital in RMS; c.1123+2 T>C mutation of INSR causes pancreatic decline; current treatments show limited effectiveness.
Core Tip: Rabson-Mendenhall syndrome is a rare monogenic diabetes caused by insulin receptor gene mutations, with no effective treatment currently available. Early diagnosis is essential for treatment planning and prognosis evaluation. We report a case of Rabson-Mendenhall syndrome where clinical features, whole-exome sequencing, and bioinformatics identified the c.1123+2 T>C mutation as likely pathogenic. Due to severe insulin resistance, a combination of oral hypoglycemic agents with different mechanisms may be appropriate. Novel therapies, such as leptin, hold potential for future research.
