Cytogenetic evidence of autosomal chromosomal aberrations in disorders of sex development from an Iraqi cohort
Autosomal Chromosomal Aberrations in DSD
DOI:
https://doi.org/10.29409/4vy1gx53Keywords:
chromosomal abnormalities, chromosome 19, DSD, Iraqi patients, G-bandingAbstract
Background: Disorders of sex development (DSD) are congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. Although sex chromosome abnormalities are well recognized, autosomal alterations remain insufficiently studied, especially in underrepresented populations. Objective: This study aimed to describe cytogenetic findings related to clinical phenotypes, particularly autosomal rearrangements, in an Iraqi cohort with DSD.
Methods: A total of 81 patients with clinically suspected DSD were subjected to cytogenetic analysis using standard G-banding techniques. Typically, 25-30 metaphases were analyzed per case whenever culture quality permitted, with additional metaphases examined when necessary. Chromosomal abnormalities were classified as numerical or structural and involved sex chromosomes and/or autosomes. Descriptive statistics were applied, and associations between chromosomal abnormalities and clinical phenotypes were explored.
Results: Chromosomal abnormalities were identified in 64% (53/81) of the patients. Both sex chromosomes and multiple autosomes were involved, with recurrent abnormalities observed mainly on chromosomes 19, 2, 5, 12, and 16. The short arm of chromosome 19 (19p) was the most frequently affected region. Notably, several patients exhibited discordance between their sex and chromosomal constitution, often in association with complex autosomal rearrangements. Autosomal abnormalities were most frequent in ambiguous genitalia and primary amenorrhea.
Conclusion: These findings suggest that autosomal chromosomal abnormalities contribute to the phenotypic diversity of DSD. Recurrent chromosome 19p involvement in female patients may indicate a broader role in sex development beyond male-specific pathways. Further molecular studies are needed. These results emphasize the importance of comprehensive cytogenetic evaluation beyond sex chromosomes in DSD patients.
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Data Availability Statement
The data sets generated and analyzed during the current study contain sensitive clinical and genetic information and are therefore not publicly available. Data may be obtained from the corresponding author upon reasonable request and with appropriate ethical approval.
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