Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia

被引：18
作者：
Jayasena, Channa N. [1 ]
Sironen, Anu [2 ]
机构：
[1] Imperial Coll London, Sect Investigat Med, London W12 0NN, England
[2] Nat Resources Inst Finland, Prod Syst, Jokioinen 31600, Finland
来源：
DIAGNOSTICS | 2021年 / 11卷 / 09期
基金：
美国国家卫生研究院;
关键词：
PCD; sperm; male fertility; ICSI; INTRACYTOPLASMIC SPERM INJECTION; MULTIPLE MORPHOLOGICAL ABNORMALITIES; IMMOTILE EJACULATED SPERMATOZOA; NORMAL LIVE BIRTH; TESTICULAR SPERM; NONOBSTRUCTIVE AZOOSPERMIA; KARTAGENERS-SYNDROME; MOTILE CILIA; MUTATIONS; FLAGELLA;
D O I：
10.3390/diagnostics11091550
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Primary ciliary dyskinesia (PCD), a disease caused by the malfunction of motile cilia, manifests mainly with chronic recurrent respiratory infections. In men, PCD is also often associated with infertility due to immotile sperm. Since causative mutations for PCD were identified in over 50 genes, the role of these genes in sperm development should be investigated in order to understand the effect of PCD mutations on male fertility. Previous studies showed that different dynein arm heavy chains are present in respiratory cilia and sperm flagellum, which may partially explain the variable effects of mutations on airways and fertility. Furthermore, recent studies showed that male reproductive tract motile cilia may play an important part in sperm maturation and transport. In some PCD patients, extremely low sperm counts were reported, which may be due to motile cilia dysfunction in the reproductive tract rather than problems with sperm development. However, the exact roles of PCD genes in male fertility require additional studies, as do the treatment options. In this review, we discuss the diagnostic and treatment options for men with PCD based on the current knowledge.
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页数：15
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