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Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men

  • Assisted Reproduction Technologies
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A Correction to this article was published on 05 November 2022

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Abstract

Purpose

Sex chromosome abnormalities are associated with male infertility. The aim of this study was to characterize the clinical, cytogenetic, and molecular findings of 12 infertile men with isodicentric Y-chromosome [idic(Y)] abnormalities diagnosed over a period of 13 years.

Materials and methods

Chromosomal analyses of peripheral blood samples were done using standard procedures. Fluorescence in situ hybridization (FISH) analysis was performed on metaphase spreads of the patients. Multiplex polymerase chain reaction (PCR) using several sequence-tagged site (STS) primer sets within the long arm of Y-chromosome was used to detect AZF deletions.The breakpoints and copy number variations (CNV) were identified by array comparative genomic hybridization analysis (aCGH) analysis.The short-stature homeobox (SHOX) gene deletions were verified using multiplex ligation-dependent probe amplification (MLPA) analysis.

Results

Twelve infertile men were diagnosed cytogenetically with idic(Y). The karyotypes of two of the patients were non-mosaic, and the remaining karyotypes showed various degrees of mosaicism. SHOX gene deletion was found in two of the four patients with short stature, and the remaining two patients had shown a 45,X dominant cell line (33.3%). The most common breakpoints for idic(Yq) and idic(Yp) were found to be in Yq11.222 and Yp11.32, respectively. Semen analysis of ten patients (83.3%) demonstrated azoospermia, and the remaining two patients (16.7%) showed severe oligoasthenoteratozoospermia (OAT). In total, 33% (4/12) of idic(Y) patients with or without microsurgical testicular sperm extraction (microTESE) had sperm retrieval.

Conclusions

Twelve patients with idic(Y) and different breakpoints of Y-chromosome were characterized using multiple detection strategies. Sperm retrieval outcomes of patients either with idic(Yp) or idic(Yq) showed the possibility to find sperm by microTESE.

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Data availability

The datasets generated during the study are available from the corresponding author on request.

Change history

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Author information

Authors and Affiliations

  1. Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

    Ummet Abur, Omer Salih Akar & Engin Altundag

  2. Department of Molecular Medicine, Graduate Institute, Ondokuz Mayis University, Samsun, Turkey

    Ummet Abur, Sezgin Gunes, Omer Salih Akar, Engin Altundag & Ramazan Asci

  3. Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, 55139, Turkey

    Sezgin Gunes & Neslihan Hekim

  4. Department of Urology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

    Ramazan Asci

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Contributions

Conceptualization, UA and SG. Data curation, RA, ÜA, ÖSA, and EA. Formal analysis, ÜA, NH, ÖSA, and EA. Investigation, ÜA, NH, ÖSA, and EA. Methodology, ÜA. Resources, ÜA. Supervision, ÜA and SG. Validation, ÖSA and EA. RA was responsible for the diagnosis of patients. UA, SG, NH, EA, OSA, and RA contributed to manuscript revision, read, and approved the final version.

Corresponding author

Correspondence to Sezgin Gunes.

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Ethics approval and consent to participate

The present study protocol was reviewed and approved by the institutional review board of the Ondokuz Mayis University Hospital (Reg. No. 58–2007). Informed consent was submitted by all subjects when they were enrolled.

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The authors declare no competing interests.

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The original online version of this article was revised: In this article the affiliation details for Author 3 Neslihan Hekim were incorrectly given as 2 but should have been 3.

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Abur, U., Gunes, S., Hekim, N. et al. Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men. J Assist Reprod Genet 39, 2799–2810 (2022). https://doi.org/10.1007/s10815-022-02632-8

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