Telomere Dysfunction in Pediatric Patients with Differences/Disorders of Sexual Development

Overview

Journal Biomedicines

Specialty Biomedical Engineering

Date 2024 Mar 28

PMID 38540177

Authors

Haifaou Younoussa

Macoura Gadji

Mamadou Soumboundou

Bruno Colicchio

Ahmed Said

Ndeye Aby Ndoye

Steffen Junker

Andreas Plesch

Leonhard Heidingsfelder

Ndeye Rama Diagne

Alain Dieterlen

Philippe Voisin

Patrice Carde

Eric Jeandidier

Radhia Mkacher

Affiliations

Soon will be listed here.

Abstract

Materials And Methods: Peripheral blood lymphocytes were sampled from 35 DSD patients (mean age: 3.3 years; range 0-18 years) admitted to two hospital centers in Dakar. Peripheral blood lymphocytes from 150 healthy donors were used as a control. Conventional cytogenetics, telomere, and centromere staining followed by multiplex FISH, as well as FISH with -specific probes, were employed.

Results: Cytogenetic analysis identified 19 male and 13 female patients with apparently normal karyotypes, two patients with Turner syndrome, and one patient with Klinefelter syndrome. Additional structural chromosome aberrations were detected in 22% of the patients (8/35). Telomere analysis revealed a reduction in mean telomere lengths of DSD patients compared to those of healthy donors of similar age. This reduction in telomere length was associated with an increased rate of telomere aberrations (telomere loss and the formation of telomere doublets) and the presence of additional chromosomal aberrations.

Conclusions: To the best of our knowledge, this study is the first to demonstrate a correlation between telomere dysfunction and DSDs. Further studies may reveal the link between telomere dysfunction and possible mechanisms involved in the disease itself, such as DNA repair deficiency or specific gene mutations. The present study demonstrates the relevance of implementing telomere analysis in prenatal tests as well as in diagnosed genetic DSD disorders.

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