Gene deletions in an infertile man with sperm fibrous sheath dysplasia
Open Access
- 24 June 2005
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Reproduction
- Vol. 20 (10), 2790-2794
- https://doi.org/10.1093/humrep/dei126
Abstract
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.Keywords
This publication has 19 references indexed in Scilit:
- Notulae seminologicae. 2. The ‘short tail’ and ‘stump’ defect in human spermatozoaAndrologia, 2009
- EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004International Journal of Andrology, 2004
- 10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: Case reportHuman Reproduction, 2003
- Sperm pathology: a step beyond descriptive morphology. Origin, characterization and fertility potential of abnormal sperm phenotypes in infertile menHuman Reproduction Update, 2003
- A-Kinase Anchoring Protein 4 Binding Proteins in the Fibrous Sheath of the Sperm FlagellumBiology of Reproduction, 2003
- Fibrous sheath of mammalian spermatozoaMicroscopy Research and Technique, 2003
- Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic FailureAmerican Journal of Human Genetics, 2002
- Regulation of Protein Tyrosine Phosphorylation in Human Sperm by a Calcium/Calmodulin-Dependent Mechanism: Identification of A Kinase Anchor Proteins as Major Substrates for Tyrosine PhosphorylationDevelopmental Biology, 1996
- Multicolor Fluorescence in Situ Hybridization Analysis of Aneuploidy and Diploidy Frequencies in 225 846 Sperm from 10 Normal Men1Biology of Reproduction, 1996
- Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterilityFertility and Sterility, 1987