Zhang P, Fu JY. X-linked recessive Kallmann syndrome: A case report. World J Clin Cases 2022; 10(25): 8990-8997 [PMID: 36157645 DOI: 10.12998/wjcc.v10.i25.8990]
Corresponding Author of This Article
Jing-Yun Fu, MD, Chief Doctor, Division of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Xi Chang Road, Kunming 650031, Yunnan Province, China. fujy74@sina.com
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
World J Clin Cases. Sep 6, 2022; 10(25): 8990-8997 Published online Sep 6, 2022. doi: 10.12998/wjcc.v10.i25.8990
X-linked recessive Kallmann syndrome: A case report
Ping Zhang, Jing-Yun Fu
Ping Zhang, Jing-Yun Fu, Division of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Kunming 650031, Yunnan Province, China
Author contributions: Fu JY contributed to the conception and design of the study; Zhang P organized the database; Zhang P wrote the first draft of the manuscript; all authors contributed to manuscript revision and read and approved the submitted version.
Supported bythe National Natural Science Foundation of China, No. 81860265; and the Special Foundation for Discipline Leaders of High-level Health Technical Talents in Yunnan Province, No. D-2018035.
Informed consent statement: Participants in this study provided informed written consent prior to study enrolment.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
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: Jing-Yun Fu, MD, Chief Doctor, Division of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Xi Chang Road, Kunming 650031, Yunnan Province, China. fujy74@sina.com
Received: April 13, 2022 Peer-review started: April 13, 2022 First decision: May 30, 2022 Revised: June 16, 2022 Accepted: July 27, 2022 Article in press: July 27, 2022 Published online: September 6, 2022 Processing time: 134 Days and 18.9 Hours
Core Tip
Core Tip: Kallmann syndrome (KS), also known as hypogonadotropic hypogonadism (HH) or olfactory-gonadal dysplasia, is a genetic condition in which the primary symptom is a failure to begin puberty or a failure to fully complete it. It occurs in both males and females and has the additional symptoms of hypogonadism and almost invariably infertility. The condition has a low prevalence. The prevalence is estimated to be 1 in 4000 for male HH cases overall and 1:50000 for KS. It is three to five times more common in males than females. Whether this is a true sex imbalance or a reflection of how difficult KS/HH is to diagnose correctly in males vs females has yet to be fully established. Our Department of Endocrinology admitted a case of adolescent dysplasia in 2017. The patient presented with no development of secondary sex characteristics, such as the growth of facial hair and deepening of the voice, and an unusually small penis (micropenis). These presentations indicate adolescent dysplasia. A mutation in the KAL-1 gene was detected by a family pedigree survey and gene molecular screening analysis.
