Basic Study
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Dec 15, 2021; 12(12): 2058-2072
Published online Dec 15, 2021. doi: 10.4239/wjd.v12.i12.2058
Molecular diagnosis of Kallmann syndrome with diabetes by whole exome sequencing and bioinformatic approaches
Shuang-Shuang Sun, Rui-Xue Wang
Shuang-Shuang Sun, Rui-Xue Wang, Clinical Lab, Shanxi Provincial People's Hospital, Taiyuan 030012, Shanxi Province, China
Author contributions: Sun SS performed the research; Wang RX contributed to writing of the original draft, preparation of the paper for submission and revising of the manuscript for important intellectual content.
Institutional review board statement: The study was reviewed and approved by the Institutional Review Board of Shanxi Provincial People's Hospital.
Conflict-of-interest statement: The authors declare no conflicts of interest.
Data sharing statement: The data to support the findings in the study are available from the corresponding author upon reasonable request.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Rui-Xue Wang, MD, Attending Doctor, Clinical Lab, Shanxi Provincial People's Hospital, No. 29 Shuangtasi Street, Taiyuan, 030012, Shanxi Province, China. sss651897@163.com
Received: August 24, 2021
Peer-review started: August 24, 2021
First decision: September 5, 2021
Revised: September 7, 2021
Accepted: November 25, 2021
Article in press: November 25, 2021
Published online: December 15, 2021
Processing time: 114 Days and 5.8 Hours
Core Tip

Core Tip: Kallmann syndrome is associated with low secretion of gonadotropins, which can also lead to other abnormal endocrine metabolism, such as diabetes. Sequencing revealed mutations in the KLB p.T313M, ANOS1 p.C172F, and IGSF10 gene (p.Lys1819Arg and p.Arg1035Thr) at different sites, which may have been associated with disease onset. Timely diagnosis and treatment can induce puberty, thereby improving sexual, bone, metabolic and mental health.