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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2022; 10(34): 12761-12767
Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12761
Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12761
Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report
Tian-Qin Deng, Jiang-Bo Pu, Jiang Xuan, Xue-Mei Li, Reproductive Medical Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen 518028, Guangdong Province, China
Yu-Li Xie, Newborn Screening Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen 518028, Guangdong Province, China
Author contributions: Xie YL, Pu JB, and Jiang X actively participated in collection and diagnosis of the patient; Deng TQ wrote the manuscript; Li XM revised the manuscript; all authors have read and approved the final manuscript.
Supported by Shenzhen Key Medical Discipline Construction Fund , Grant/Award, No. SZXK031.
Informed consent statement: A written informed consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: All the authors have nothing to disclose.
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: Tian-Qin Deng, PhD, Chief Doctor, Reproductive Medical Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, No. 3012 Fuqiang Road, Shenzhen 518028, Guangdong Province, China. tianqin02@163.com
Received: September 11, 2022
Peer-review started: September 11, 2022
First decision: October 13, 2022
Revised: October 20, 2022
Accepted: November 4, 2022
Article in press: November 4, 2022
Published online: December 6, 2022
Peer-review started: September 11, 2022
First decision: October 13, 2022
Revised: October 20, 2022
Accepted: November 4, 2022
Article in press: November 4, 2022
Published online: December 6, 2022
Core Tip
Core Tip: Acephalic spermatozoa syndrome (ASS) is an extremely rare form of teratozoospermia. Patients with ASS are often unable to conceive naturally, and intracytoplasmic sperm injection is the main method used for such patients to produce biological offspring. Recent studies have shown that ASS is associated with inherited genetic mutations.