Mosaic Ring Chromosome 13 Presented with Isolated Male Infertility: Case Report

oleh: Mohamamdreza Zamanian, Hesam Sajadi, Masoomeh Tahsili, Parnaz Borjian Boroujeni, Navid Almadani

Format: Article
Diterbitkan: Royan Institute (ACECR), Tehran 2023-04-01

Deskripsi

Ring chromosomes are the result of breakage and re-union of distal ends of chromosomal arms. They have a generalfrequency of 1 in 50,000 and 1 in 58,000 for chromosome 13. Ring chromosome 13 is usually presented as a syndromicsituation stigmatized by particular features, including developmental delay, mental retardation and CNS, skeletalor organ anomalies. As an experimental study, here we report a 31 years old male with no major phenotypic manifestationwho was evaluated for azoospermia, while his karyotype revealed presence of a mosaic ring chromosome 13. Hehad a history of bilateral varicocelectomy and no other major finding in his routine infertility work up was determined.Genetic counseling did not provide any clue for mental disability or dysmorphic features. Pathology examination ofthe testicular tissue revealed very scarce number of spermatid/spermatozoa within the tubules in conjunction withdegrees of maturation arrest mostly in spermatocyte stage. In our knowledge, this is the first report of a ring chromosome13, manifested by an isolated male infertility.