Constitutional Chromosomal Abnormalities Associated with Reproductive Disorders at Félix Houphouët-Boigny University of Abidjan (Côte d’Ivoire): Three Case Reports

Introduction: This article discusses female reproductive disorders, specifically primary amenorrhea and recurrent spontaneous abortions (RSA). Primary amenorrhea affects 3 to 4% of adolescent girls and can result from hormonal abnormalities, malformations, or chromosomal abnormalities, mainly involving the X chromosome. Recurrent spontaneous abortions (RSA), affecting 2% to 3% of women of childbearing age, are associated with significant psychological stress. Chromosomal abnormalities, particularly Robertsonian translocations, play a key role in RSA, with homologous translocations being particularly high-risk. The study of these genetic etiologies is limited in Côte d’Ivoire. Observations: Three clinical cases are presented. The first concerns a 16-year-old adolescent with primary amenorrhea due to a rare interstitial chromosomal duplication (Xp22.3-p11.4 and 9q11-q13). It highlights the role of chromosomal abnormalities in gonadal dysgenesis. The other two cases concern patients with RSA associated with Robertsonian translocations that disrupt meiosis. One presents with a homologous Robertsonian translocation (13;13), and the other with a heterologous translocation (13;14). The normal karyotype of the daughter of the patient with the homologous 13 translocations demonstrates the complexity of the genetic mechanisms involved. Karyotyping was performed using G-banding and microscopic analysis. Appropriate genetic counseling was provided to the patients and their families. Conclusion: Cytogenetic analysis is essential for exploring reproductive disorders. Precise characterization of chromosomal abnormalities by PCR and sequencing is crucial for genetic counseling and understanding the underlying genetic mechanisms. These observations enhance knowledge of the links between specific chromosomal abnormalities and clinical phenotypes in Côte d’Ivoire.