Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia
Abstract
:1. Introduction
2. Role of PCD Genes in Male Fertility
2.1. Sperm Specific Dynein Heavy Chain Genes
2.2. Male Specific Motile Cilia
3. Diagnosing Male Infertility in PCD Patients
3.1. Semen Quality Analysis
3.2. Sperm Viability
4. Treating Male Infertility in PCD
5. Success of ART in PCD Patients
6. Future Perspectives
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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Defect | Sperm Phenotype |
---|---|
Normozoospermia | Normal ejaculate and semen parameters |
Azoospermia | No sperm in the ejaculate |
Oligozoospermia | Sperm concentration <15 million/mL |
Asthenozoospermia | Sperm motility <40% |
Teratozoospermia | Normal morphology <4% |
Oligoasthenozoospermia | Sperm concentration <15 million/mL |
Sperm motility <40% | |
Oligoteratozoospermia | Sperm concentration <15 million/mL |
Normal morphology <4% | |
Asthenoteratozoospermia | Sperm motility <40% |
Normal morphology <4% | |
Oligoasthenoteratozoospermia | Sperm concentration <15 million/mL |
Sperm motility <40% | |
Normal morphology <4% |
WHO Reference Range | |
---|---|
Total sperm count in ejaculate | 39–928 million |
Ejaculate volume | 1.5–7.6 mL |
Sperm concentration | 15–259 million per mL |
Total motility (progressive and non-progressive) | 40–81 percent |
Progressive motility | 32–75 percent |
Sperm morphology | 4–48 percent |
Gene | ICSI Result | Sperm Origin | Reported Sperm Phenotype | Viability % | Sperm Count | Reference |
---|---|---|---|---|---|---|
- | live birth | ejaculated sperm | immotile | 90 | normal | [97] |
- | live birth | ejaculated sperm, swim-up | 25% motility | nd | normal | [98] |
- | live birth | testicular sperm | azoospermia | nd | 0 | [83] |
- | live birth | testicular sperm | immotile | <5% | low (4.8) | [83] |
- | live birth | testicular sperm | immotile, severe oligospermia | nd | extremely low | [57] |
- | pregnancy | testicular sperm | immotile | >65 | normal | [57] |
- | live birth | testicular sperm | immotile, malformed | nd | normal | [94] |
- | live birth | viable ejaculated sperm | immotile, dynein arm defect | 40 | normal | [61] |
- | live birth | ejaculated sperm, swim-up | 0.3% motile, lack of dynein arms | 30 | normal | [99] |
- | no pregnancy | viable ejaculated and testicular | 0.3% motile, 76.4% DNA fragmentation | 30 | low (1.2) | [74] |
- | live birth | viable ejaculated sperm | immotile, dynein arm defect | 54 | low (0.9) | [85] |
- | live birth | testicular sperm | azoospermia | nd | 0 | [84] |
- | live birth | viable ejaculated sperm | immotile | nd | normal | [62] |
- | live birth | testicular sperm | immotile, malformed | 20 | low (10.1) | [100] |
- | live birth | viable ejaculated sperm, | immotile, abnormal morphology | 32 | low (1.8) | [86] |
- | live birth | viable ejaculated sperm | immotile | 60–74 | normal | [101] |
- | no pregnancy | viable ejaculated sperm | immotile | 35–65 | normal | [101] |
ZMYND10 | healthy baby | viable ejaculated sperm | immotile, oligoasthenoteratozoospermia, lack of dynein arms | 54 | low (2–9) | [69] |
CFAP74 | healthy baby | ejaculated sperm | low motility (2%), malformed | nd | normal | [103] |
DNAAF6 | healthy baby | viable ejaculated sperm | immotile | nd | low (5.2–11.2) | [104] |
DNAAF7 | healthy baby | viable ejaculated sperm | low motility (8.6%) | nd | low (3.5–8.7) | [104] |
SPAG6 | healthy baby | viable ejaculated sperm | immotile, malformed | nd | normal | [66] |
RSPH3 | healthy baby | viable ejaculated sperm | immotile, malformed | nd | normal | [66] |
DNAH9 | clinical pregnancy | motile ejaculated sperm | very low motility (0.3–0.8% motile) | 75–82 | normal | [50] |
LRRC6 | clinical pregnancy | testicular sperm | immotile, axoneme defects | 75 | normal | [102] |
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Jayasena, C.N.; Sironen, A. Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia. Diagnostics 2021, 11, 1550. https://doi.org/10.3390/diagnostics11091550
Jayasena CN, Sironen A. Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia. Diagnostics. 2021; 11(9):1550. https://doi.org/10.3390/diagnostics11091550
Chicago/Turabian StyleJayasena, Channa N., and Anu Sironen. 2021. "Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia" Diagnostics 11, no. 9: 1550. https://doi.org/10.3390/diagnostics11091550