Premature Chromatid Separation Trait Found During the Diagnosis of Male Infertility: A Case Report.
Cureus
; 16(4): e58558, 2024 Apr.
Article
en En
| MEDLINE
| ID: mdl-38770464
ABSTRACT
Premature chromatid separation (PCS)/mosaic variegated aneuploidy (MVA) syndrome is a rare chromosome instability syndrome. This syndrome is inherited in an autosomal recessive pattern. Although heterozygous carriers of a monoallelic mutation reportedly have a normal phenotype, PCS-positive cells are found at a higher rate in such carriers than in the general population. We herein report a case in which a PCS carrier was incidentally diagnosed during investigation of male infertility. A diagnosis of nonobstructive azoospermia was made, and chromosome analysis revealed the PCS trait in 81 of 200 cells (40.5%), indicating that the patient was a PCS carrier. PCS carriers are not uncommon, and if both members of a couple are carriers, there would be a 25% likelihood of the child presenting with PCS syndrome. Therefore, a clinical psychological approach that includes genetic counseling should be considered before proceeding to microsurgical testicular sperm extraction.
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01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Cureus
Año:
2024
Tipo del documento:
Article