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What Impact on Phenotype for Patients with Karyotype 46, xx dsd SRY Positive at CHU Dantec in Senegal: About 5 Cases?

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Open Journal of Genetics 2023年第2期13卷 83-96页

作者： Fatou Diop Gueye Arame Ndiaye Adji Dieynaba Diallo Mame Venus Gueye Ndiaga Diop Macoura Gadji Oumar Faye Mama Sy Diallo Cytogenetics Unit Laboratory of Clinical Cytology-Cytogenetics-Biology of Reproduction and Human Development Aristide Le Dantec Hospital Dakar Senegal Doctoral School of Life Health and Environmental Sciences ED-SEV Human Biology and Pathology Faculty of Medicine Pharmacy and Odontology Cheikh Anta Diop University Dakar Senegal Histology-Embryology Laboratory Department of Biology and Functional Explorations Faculty of Medicine Pharmacy and Odontology Cheikh Anta Diop University Dakar Senegal Sciences Biologiques et Pharmaceutiques Appliquées Université Cheikh Anta Diop Dakar Senegal

Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, xx dsd where most patients are female phenotype with clitoral hypertrophy that can go to complete masculinization especially in the presence of the SRY gene. Objective: The goal of this work is to demonstrate a relationship between the genotype and the phenotype in five patients karyotype 46, xx with the presence of the SRY gene. Methodology: The study involves five patients referred to the laboratory under suspicion of sexual development anomalies. The diagnosis took place through hormonal and echography examinations, a classic cytogenetic study (Barr chromatin and karyotype) and an amplification of the SRY gene located on the Y chromosome. The resulting PCR products were sent for sequencing. Results: Based on the results of clinical and paraclinical tests carried out it was found clitoral hypertrophy, the presence of clitoris penis for some, presence of normal penis for others. In addition, echography revealed a lack of female internal genitalia (P2, P3), and a presence of testicles (P3, P4, P5). Genetic analysis (chromosomal and molecular) showed a karyotype 46, xx SRY (+) for all patients. New mutations were found c.246 T > A, p.82 Asn82Lys and c.171 G > C, p.57 Gln57His. Conclusion: In our study, we were able to correlate each dsd with karyotype 46, xx to a pathology such as 46, xx dsd testicular, 46, xx dsd with clitoral hypertrophy and ovotestis 46, xx. The next step will undoubtedly be the integration of other molecular techniques (genotyping, FISH, CGH or even the CGH array) to further genetic exploration.

关键词： 46 xx dsd SRY Phenotype Hypertrophy

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