Wu YH, Sun KN, Bao H, Chen YJ. SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature. World J Clin Cases 2020; 8(24): 6380-6388 [PMID: 33392321 DOI: 10.12998/wjcc.v8.i24.6380]
Corresponding Author of This Article
Ying-Jian Chen, PhD, Chief Doctor, Professor, Department of Laboratory Medicine, The 960th Hospital of The PLA Joint Logistics Support Force, No. 25 Shifan Road, Tianqiao District, Jinan 250031, Shandong Province, China. yjqchen@126.com
Research Domain of This Article
Andrology
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. Dec 26, 2020; 8(24): 6380-6388 Published online Dec 26, 2020. doi: 10.12998/wjcc.v8.i24.6380
SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature
Yan-Hua Wu, Ke-Na Sun, Hui Bao, Ying-Jian Chen
Yan-Hua Wu, Hui Bao, Ying-Jian Chen, Department of Laboratory Medicine, The 960th Hospital of The PLA Joint Logistics Support Force, Jinan 250031, Shandong Province, China
Ke-Na Sun, Department of Medical Laboratory, Weifang Medical University, Weifang 261053, Shandong Province, China
Author contributions: Chen YJ designed the study and revised the manuscript; Wu YH performed data acquisition, analysis, and interpretation and wrote the manuscript; Sun KN and Bao H performed the experiments; All authors issued final approval of the submitted version of the manuscript.
Informed consent statement: All study participants, or their legal guardians, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ying-Jian Chen, PhD, Chief Doctor, Professor, Department of Laboratory Medicine, The 960th Hospital of The PLA Joint Logistics Support Force, No. 25 Shifan Road, Tianqiao District, Jinan 250031, Shandong Province, China. yjqchen@126.com
Received: August 6, 2020 Peer-review started: August 6, 2020 First decision: September 13, 2020 Revised: September 28, 2020 Accepted: October 13, 2020 Article in press: October 13, 2020 Published online: December 26, 2020 Processing time: 135 Days and 7.6 Hours
Abstract
BACKGROUND
45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner’s syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-appearing male phenotype are not found until a chromosome test is performed to investigate the cause of male infertility.
CASE SUMMARY
In this study, a 29-year-old male patient with complete azoospermia is reported. Chromosomal analyses of his lymphocytes revealed the karyotype 45,X[93%]/46,X,+mar(Y)[7%]. In addition, Y chromosome-specific markers, such as SRY, ZFY, AZFa, AZFb and AZFc, were not observed in his blood DNA according to multiplex polymerase chain reaction test. A literature review identified several 45,X/46,XY cases with a normal-appearing male phenotype, most of whom were diagnosed during infertility investigation. However, the present case is the first SRY-negative 45,X/46,XY male case diagnosed during a premarital medical examination.
CONCLUSION
This finding further suggests that sex determination is a complex process regulated by multiple genetic and environmental factors.
Core Tip: A rare chromosomal abnormality is 45,X/46,XY mosaicism. Here, we describe the diagnosis of a rare case of a 45,X/46,XY SRY-negative man with complete virilization and infertility as the main anomaly.
