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[Malformed macrocephalous sperm with polytails and chromosomal aberrance]
1The Human Reproductive Engineering Department and Laboratory of Electronic Microscopy, the Hunan Medical University, Changsha, Hunan, 410078 P.R. China. fanlq@public.cs.hn.cn
Objective:
To investigate the relationship between sperm anomalies and chromosomal aberrance and to further understand the pathological changes of anomalous spermatozoa.
Methods:
Light and electronic (SEM or TEM) microscopes were used for morphological analysis. Fluorescence in situ hybridization(FISH) with chromosome X-, Y-specific probes were used for aneuploidy detection in sperms of the patient.
Results:
Ninety eight point seven five per cent of the Papanicolaou stained sperms were observed to be abnormal; 100% of the sperm heads were abnormal, measured under oil objective (1000 times); 60.25% of the sperms had two or more tails (the maximum being eight tails). SEM and TEM demonstrated that the heads contained a large amount of cytoplasmic structure, the surfaces of heads were uneven, the nuclei were of much irregular shape; besides aberrance in quantity, anomalies occurred with centromeres, mitochondria and flagella in the tails. The results of FISH showed that the aneuploidy rate of sex chromosomes was 61.41% which was parallel to the rate of polytails.
Conclusion:
Even though the chromosomes in somatic cells are normal, the chromosomes in anomalous sperms may be abnormal.
Insights
Sperm morphology anomalies, including multiple tails, are linked to abnormal sex chromosomes. This indicates that even with normal somatic cells, sperm chromosomes can be aberrant, impacting reproductive health.
Area of Science:
- Reproductive Biology
- Human Genetics
- Cell Biology
Background:
- Sperm anomalies can impact male fertility.
- Understanding the link between sperm morphology and chromosomal aberrations is crucial for diagnosing infertility.
- Previous research has explored various sperm defects, but a comprehensive analysis correlating morphology with aneuploidy is needed.
Observation:
- Microscopic examination revealed widespread sperm abnormalities, with 98.75% of Papanicolaou stained sperm showing defects.
- 100% of sperm heads were abnormal, and 60.25% exhibited multiple tails (up to eight).
- Scanning Electron Microscopy (SEM) and Transmission Electron Microscopy (TEM) detailed irregular nuclear shapes, cytoplasmic inclusions, and flagellar/centromere anomalies.
Findings:
- Fluorescence in situ hybridization (FISH) detected a high sex chromosome aneuploidy rate of 61.41% in the patient's sperm.
- This aneuploidy rate strongly correlated with the observed high incidence of multiple tails (polytails).
Implications:
- The study highlights that significant chromosomal abnormalities can exist in sperm even when somatic cells appear normal.
- These findings suggest that sperm morphology analysis, particularly tail defects, may serve as an indicator for underlying chromosomal aneuploidy.
- This has implications for genetic counseling and diagnostic approaches in male infertility evaluations.