%0 Journal Article
%T What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?
%A Fatou Diop Gueye
%A Arame Ndiaye
%A Adji Dieynaba Diallo
%A Mame Venus Gueye
%A Ndiaga Diop
%A Macoura Gadji
%A Oumar Faye
%A Mama Sy Diallo
%J Open Journal of Genetics
%P 83-96
%@ 2162-4461
%D 2023
%I Scientific Research Publishing
%R 10.4236/ojgen.2023.132005
%X <b><span style=\"font-family:;\" \"=\"\">Background: </span></b><span style=\"font-family:;\" \"=\"\">In disorders of sexual differentiation, sexual development may <span>not conform to the chromosomal structure, thus
forming different types of abnormalities</span>. 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. <b>Objective: </b>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.</span><span style=\"font-family:;\" \"=\"\"> </span><b><span style=\"font-family:;\" \"=\"\">Methodology:</span></b><span style=\"font-family:;\" \"=\"\"> The study involves five patients referred to the la<span>boratory under suspicion of sexual development
anomalies.</span></span><span style=\"font-family:;\" \"=\"\"> </span><span style=\"font-family:;\" \"=\"\">The diagnosis took</span><span style=\"font-family:;\" \"=\"\"> 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.</span><span style=\"font-family:;\" \"=\"\"> </span><b><span style=\"font-family:;\" \"=\"\">Results:</span></b><span style=\"font-family:;\" \"=\"\"> 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.</span><span style=\"font-family:;\" \"=\"\"> </span><span style=\"font-family:;\" \"=\"\">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</span><span style=\"font-family:;\" \"=\"\"> </span><span style=\"font-family:;\" \"=\"\">&gt;</span><span style=\"font-family:;\" \"=\"\"> </span><span style=\"font-family:;\" \"=\"\">A, p.82 Asn82Lys and c.171
G</span><span style=\"font-family:;\" \"=\"\"> </span><span style=\"font-family:;\" \"=\"\">&gt;</span><span style=\"font-family:;\" \"=\"\"> </span><span style=\"font-family:;\" \"=\"\">C, p.57 Gln57His.</span><span style=\"font-family:;\" \"=\"\"> </span><b><span style=\"font-family:;\" \"=\"\">Conclusion:</span></b><span style=\"font-family:;\" \"=\"\"> In our
study, we were able to correlate each
%K 46
%K XX DSD
%K SRY
%K Phenotype
%K Hypertrophy
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=125814