Andrology-Open Access
Open Access

Abstract

Prevalence and Patterns of Y Chromosome Microdeletions in Patients with Differences of Sex Development and 45,X Mosaicism

Laura da Silva Salvanini, Elinaelma Suelane do Nascimento Silva, Jose Antonio Diniz Faria Junior, Renata Scalco, Alexander Augusto de Lima Jorge, Mirian Yumie Nishi, Berenice Bilharinho de Mendonca and Sorahia Domenice*

Background: Sex development in mammals is regulated by a complex interplay of genetic and epigenetic mechanisms. Deviations in this process can lead to Differences of Sex Development (DSD), including sex chromosome DSD conditions such as 45,X/46,XY mosaicism. Y chromosome microdeletions, particularly in the Azoospermia Factor (AZF) region, have been associated with this condition due to their potential to cause Y chromosome instability, leading to the formation of 45,X cell lineages. This study investigated the frequency and patterns of Yq microdeletions in subjects with sex chromosome DSD and 45,X mosaicism.

Methods: We analyzed 28 patients with sex chromosome DSD, all of whom had a 45,X cell lineage identified in their karyotype. Yq microdeletions were assessed using conventional and multiplex PCR, targeting 32 Sequence-Tagged Sites (STS).

Results: Yq microdeletions were identified in 13 patients (46.4%). Most deletions were observed in the AZFc subregion, with ten of eleven STSs tested in this region being absent.

Conclusion: This study corroborates previous findings linking Yq microdeletions with sex chromosome disorders and chromosomal instability. The high frequency of deletions in the AZFc subregion underscores its role in the development of 45,X cell lineages and highlights its importance for patient counseling and fertility management.

Published Date: 2024-10-28; Received Date: 2024-09-25