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Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection.
Andrologia. 2019 Feb; 51(1):e13151.A

Abstract

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.

Authors+Show Affiliations

Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China.Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China.Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China.Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China.Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30251428

Citation

Sha, Yan-Wei, et al. "Patients With Multiple Morphological Abnormalities of the Sperm Flagella Harbouring CFAP44 or CFAP43 Mutations Have a Good Pregnancy Outcome Following Intracytoplasmic Sperm Injection." Andrologia, vol. 51, no. 1, 2019, pp. e13151.
Sha YW, Wang X, Su ZY, et al. Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection. Andrologia. 2019;51(1):e13151.
Sha, Y. W., Wang, X., Su, Z. Y., Mei, L. B., Ji, Z. Y., Bao, H., & Li, P. (2019). Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection. Andrologia, 51(1), e13151. https://doi.org/10.1111/and.13151
Sha YW, et al. Patients With Multiple Morphological Abnormalities of the Sperm Flagella Harbouring CFAP44 or CFAP43 Mutations Have a Good Pregnancy Outcome Following Intracytoplasmic Sperm Injection. Andrologia. 2019;51(1):e13151. PubMed PMID: 30251428.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection. AU - Sha,Yan-Wei, AU - Wang,Xiong, AU - Su,Zhi-Ying, AU - Mei,Li-Bin, AU - Ji,Zhi-Yong, AU - Bao,Hongchu, AU - Li,Ping, Y1 - 2018/09/24/ PY - 2018/06/24/received PY - 2018/08/06/revised PY - 2018/08/21/accepted PY - 2018/9/27/pubmed PY - 2019/4/24/medline PY - 2018/9/26/entrez KW - CFAP43 KW - CFAP44 KW - intracytoplasmic sperm injection KW - multiple morphological abnormalities of the sperm flagella KW - pregnancy outcome SP - e13151 EP - e13151 JF - Andrologia JO - Andrologia VL - 51 IS - 1 N2 - 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. SN - 1439-0272 UR - https://www.unboundmedicine.com/medline/citation/30251428/Patients_with_multiple_morphological_abnormalities_of_the_sperm_flagella_harbouring_CFAP44_or_CFAP43_mutations_have_a_good_pregnancy_outcome_following_intracytoplasmic_sperm_injection_ L2 - https://doi.org/10.1111/and.13151 DB - PRIME DP - Unbound Medicine ER -