Background: Sex chromosome DSD constitute an important category in the definition of DSD.
Objective and hypotheses: 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.
Method: 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.
Results: Abnormal sex chromosomal constitution was found in 188 patients (49.6%). They included both numerical and structural sex chromosomal abnormalities. The most common numerical abnormality was 47,XXY followed by 45,X. Structural sex chromosomal abnormalities showed a wide range of variability. The most common structural abnormality was iso(Xq), which was detected among 31 patients. Isodicentric Y abnormality was detected in nine patients. testicular DSD with SRY translocated to the Xp was found in four patients.
Conclusion: This study confirms the dosage effect of sex chromosomes on somatic development and the phenotypic diversity of their presentation among different age groups.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology