Cytogenetic study of Sex chromosomal abnormalities in ......examination, pubertal staging,...
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55ESPE Poster presented at: Cytogenetic study of Sex chromosomal abnormalities in Egyptian DSD patients Inas Mazen, Aya Elaidy, Rasha Hamza, Hanan Ibrahim, Mona Mekkawy National Research Centre (NRC) and Ain Shams University, Cairo, Egypt OBJECTIVES METHODS CONCLUSIONS The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at studying the prevalence of Sex chromosomal abnormalities among DSD patients Patients were subjected to detailed clinical examination, pubertal staging, cytogenetic and FISH analysis. Laparoscopy with gonadal biopsy and FISH on gonadal tissue cells were done when indicated • Sex chromosomal abnormalities constitute a high proportion of DSD • Application of ACGH is necessary for diagnosing MCA with DSD • Detection of Y abnormalities in MGD is necessary for genetic counseling and gonadectomy ( dysgerminoma) RESULTS and GRAPHS 50 % 35% 14% 1% 0 20 40 60 80 100 120 140 160 180 200 Sex chromosomal Abnormalities 46,XY 46,XX Autosomal abnormalities Results of Chromosomal Analysis Karyotype and FISH analysis of a patient with ambiguous genitalia and isodicentric (Yq) abnormality. 417--P2 inas Mazen DOI: 10.3252/pso.eu.55ESPE.2016 Gonads & DSD
Transcript of Cytogenetic study of Sex chromosomal abnormalities in ......examination, pubertal staging,...
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ESP
E
Poster
presented at:
Cytogenetic study of Sex chromosomal abnormalities in Egyptian DSD patients
Inas Mazen, Aya Elaidy, Rasha Hamza, Hanan Ibrahim, Mona Mekkawy National Research Centre (NRC) and Ain Shams University, Cairo, Egypt
OBJECTIVES METHODS
CONCLUSIONS
The study included 379 patients comprising a wide spectrum of
presenting features, associated with different arrays of
chromosomal abnormalities aiming at studying the prevalence of
Sex chromosomal abnormalities among DSD patients
Patients were subjected to detailed clinical
examination, pubertal staging, cytogenetic and FISH
analysis. Laparoscopy with gonadal biopsy and FISH
on gonadal tissue cells were done when indicated
• Sex chromosomal abnormalities constitute a high proportion of DSD
• Application of ACGH is necessary for diagnosing MCA with DSD
• Detection of Y abnormalities in MGD is necessary for genetic counseling and gonadectomy ( dysgerminoma)
RESULTS and GRAPHS
50 %
35%
14%
1%
0
20
40
60
80
100
120
140
160
180
200
Sex chromosomalAbnormalities
46,XY 46,XX Autosomalabnormalities
Results of Chromosomal Analysis
Karyotype and FISH analysis of a patient with ambiguous genitalia and isodicentric (Yq) abnormality.
417--P2inas Mazen DOI: 10.3252/pso.eu.55ESPE.2016
Gonads & DSD
