Journal
ANDROLOGIA
Volume 51, Issue 1, Pages -Publisher
WILEY
DOI: 10.1111/and.13151
Keywords
CFAP43; CFAP44; intracytoplasmic sperm injection; multiple morphological abnormalities of the sperm flagella; pregnancy outcome
Categories
Funding
- Natural Science Foundation of Shandong Province [ZR2017LH012]
- Youth Scientific Research Project of Fujian Provincial Health and Family Planning Commission [2015-2-52, 2016-2-72]
- Science and Technology Project of Fujian Province [2015D018, 2016D010, 2017D011]
- Xiamen Science and Technology Planning Project [3502Z20154033, 3502Z20154035]
- Young/Middle-aged Talent Cultivation Project [2015-ZQN-JC-44]
- Medicine and Health Science Technology Development Project of Shandong Province [2016WS0704]
- Major/Important Disease Research Project [3502Z20159022]
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Multiple morphological abnormalities of the sperm flagella (MMAF) are a rare type of male infertility. Mutations in DNAH1, CFAP43 and CFAP44 are the main aetiology of the disorder. Previously, good intracytoplasmic sperm injection (ICSI) outcomes were reported for MMAF patients with DNAH1 mutations. However, the ICSI prognosis for MMAF patients with CFAP43 or CFAP44 mutations was not known. We designed a retrospective cohort study. Molecular genetic testing identified six MMAF patients with biallelic CFAP44 (CFAP44(+) group) or CFAP43 mutations and 12 patients with homozygous or compound heterozygous DNAH1 mutations (DNAH1(+) group). A control group consisted of age-matched, non-MMAF men. For MMAF patients carrying CFAP44 mutations, the recorded rates of fertilisation, transferable embryos, pregnancy and delivery after ICSI were 76.47%, 88.46%, 50.0% and 50.0% respectively. The fertilisation rate was significantly higher in the CFAP44(+) group than in the DNAH1(+) group (76.47% vs. 54.5%, p = 0.0196). There were no statistically significant differences in the rates of transferable embryos, implantation, clinical pregnancy and miscarriage between the CFAP44(+) group and either the DNAH1(+) group or the age-matched control group. Our results support a good ICSI prognosis for MMAF patients carrying CFAP44 or CFAP43 mutations.
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