Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome

• 作者: Chuan Huang Na-Chuan Liu Xiao-Bo Wang Ben-Hong Gu Jian-Xiong Zhang Li-Zhang Zheng Li
• 来源期刊: 亚洲男性学杂志（英文版）
• 年，卷（期）: 2021,（3）
• 所属期刊栏目: LETTER TO THE EDITOR
• 页码范围: 330-332
• 页数: 3页
• 语种: 英文
• DOI: 10.4103/aja.aja_43_20

摘要

Dear Editor, Male infertility is defined as the inability to achieve pregnancy in a fertile female partner even after 12 months of unprotected intercourse.In humans,it accounts for 40％-50％of cases of infertility,1 and it occurs most often due to problems with sperm production or sperm delivery.Male infertility is commonly due to deficiencies in semen,and semen quality is used as a surrogate measure of male fecundity.Primary ciliary dyskinesia(PCD)is a rare cause of male infertility.2,3 It is an autosomal recessive genetic condition that causes abnormal function of cilia.