Mosaic ring chromosome 13 presented with isolated male infertility: case report

Document Type : Case Report

Authors

1 Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR

2 Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

3 Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR,Tehran,Iran

10.22074/ijfs.2022.548793.1262

Abstract

Ring chromosomes are the result of breakage and re-union of the distal ends of chromosomal arms and have a general frequency of 1 in 50,000 and 1 in 58,000 for chromosome 13. Ring chromosome 13 is usually presented as a syndromic situation stigmatized by particular features including developmental delay, mental retardation and CNS, skeletal or organ anomalies. Here, we report a 31 years old male with no major phenotypic manifestations who was evaluated for azoospermia and his karyotype revealed presence of a mosaic ring chromosome 13. He had a history of bilateral varicocelectomy and no other major findings in his routine infertility work up were determined. Genetic counseling did not provide any clues for mental disability or dysmorphic features. Pathology examination of the testicular tissue revealed very scarce number of spermatid/spermatozoa within the tubules in conjunction with degrees of maturation arrest mostly in spermatocyte stage. In our knowledge, this is the first report of a ring chromosome 13 manifested by an isolated male infertility.

Keywords

Main Subjects

International Journal of Fertility and Sterility

Articles in Press, Accepted Manuscript
Available Online from 22 August 2022

Files

Share

How to cite

Statistics