Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review

Yotsapon Thewjitcharoen; Ekgaluck Wanothayaroj; Soontaree Nakasatien; Sirinate Krittiyawong; Ishant Khurana; Assam El-Osta; Thep Himathongkam

doi:10.1002/ccr3.5736

Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review

Clin Case Rep. 2022 Apr 15;10(4):e05736. doi: 10.1002/ccr3.5736. eCollection 2022 Apr.

Authors

Yotsapon Thewjitcharoen¹, Ekgaluck Wanothayaroj¹, Soontaree Nakasatien¹, Sirinate Krittiyawong¹, Ishant Khurana², Assam El-Osta^{2

3

4

5

6

7}, Thep Himathongkam¹

Affiliations

¹ Diabetes and Thyroid Center Theptarin Hospital Bangkok Thailand.
² Epigenetics in Human Health and Disease Laboratory Department of Diabetes Central Clinical School Faculty of Medicine Nursing and Health Sciences Monash University Melbourne Australia.
³ Department of Medicine and Therapeutics The Chinese University of Hong Kong (CUHK) Hong Kong SAR.
⁴ Hong Kong Institute of Diabetes and Obesity Hong Kong SAR.
⁵ Li Ka Shing Institute of Health Sciences Hong Kong SAR.
⁶ School of Biomedical Sciences CUHK Hong Kong SAR.
⁷ Faculty of Health Department of Technology Biomedical Laboratory Science University College Copenhagen Copenhagen Denmark.

Abstract

Kabuki syndrome (KS) is a genetic disorder characterized by distinctive facies, intellectual disability, and multi-organ anomalies. This case report highlights the importance of clinical recognizable phenotype in patients with diabetes. The development of diabetes should be considered an endocrine complication in KS patients.

Keywords: KMT2D; Kabuki syndrome; diabetes mellitus; insulin resistance.

Publication types

Case Reports