TITLE:
What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?
AUTHORS:
Fatou Diop Gueye, Arame Ndiaye, Adji Dieynaba Diallo, Mame Venus Gueye, Ndiaga Diop, Macoura Gadji, Oumar Faye, Mama Sy Diallo
KEYWORDS:
46, XX DSD, SRY, Phenotype, Hypertrophy
JOURNAL NAME:
Open Journal of Genetics,
Vol.13 No.2,
June
27,
2023
ABSTRACT: 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.