Gene deletions in an infertile man with sperm fibrous sheath dysplasia

Hum Reprod. 2005 Oct;20(10):2790-4. doi: 10.1093/humrep/dei126. Epub 2005 Jun 24.


Background: Asthenozoospermia may sometimes be related to genetic structural defects of the sperm tail detectable by transmission electron microscopy. Dysplasia of the fibrous sheath (DFS) is a genetic sperm defect, characterized by dysplastic development of the axonemal and periaxonemal cytoskeleton. We report the case of an infertile man with normal sperm count and total sperm immotility in which dysplasia of the fibrous sheath, Akap3, Akap4 gene deletions, meiotic segregation of chromosomes 18, X and Y and Y microdeletions were investigated.

Methods: A 32-year-old man with a 3-year history of primary infertility presented at our Regional Referral Center for Male Infertility. Family medical history, lymphocyte karyotype, PCR analysis, physical examination, hormone assays and semen analysis were performed.

Results: Ultrastructural sperm evaluation showed dysplasia of the fibrous sheath. Immunostaining of AKAP4 protein was negative in sperm tails. PCR analysis revealed intragenic deletions of the Akap3 and Akap4 genes. Fluorescence in situ hybridization on sperm showed a high frequency of XY disomy.

Conclusion: In this infertile patient, our results suggest a possible relationship between dysplasia of the fibrous sheath, partial deletions in the Akap3 and Akap4 genes and absence of AKAP4 protein in the fibrous sheath. These findings, however, were not detected in another four patients with dysplasia of the fibrous sheath. Our results require future confirmatory molecular analyses.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • A Kinase Anchor Proteins
  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • Chromosomes, Human, Pair 18 / ultrastructure
  • Chromosomes, Human, X / ultrastructure
  • Chromosomes, Human, Y / ultrastructure
  • DNA Primers / chemistry
  • Gene Deletion*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility, Male / genetics*
  • Karyotyping
  • Male
  • Meiosis
  • Microscopy, Electron
  • Microscopy, Fluorescence
  • Oligospermia / diagnosis
  • Oligospermia / genetics
  • Polymerase Chain Reaction
  • Protein Precursors / genetics
  • Spermatozoa / pathology*
  • Spermatozoa / ultrastructure*
  • Ultraviolet Rays


  • A Kinase Anchor Proteins
  • AKAP3 protein, human
  • AKAP4 protein, human
  • Adaptor Proteins, Signal Transducing
  • DNA Primers
  • Protein Precursors