1 Department of Medical Laboratories, College of Applied Medical Sciences, Taibah University, Almadeena Almonawara, Saudi Arabia
2 Department of Clinical Genetics, Nahda College, Sudan
Genomics and Applied Biology, 2015, Vol. 6, No. 8 doi: 10.5376/gab.2015.06.0008
Received: 27 Sep., 2015 Accepted: 22 Nov., 2015 Published: 14 Jan., 2016
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Samia Mahdi Ahmed, and Imad Fadl-Elmula., 2015, Clinical, Cytogenetic, and Molecular characterization of Disorders of Sexual Development (DSD) in Sudan, Genomics and Applied Biology, Vol.6, No.8: 1-6 (doi: 10.5376/gab.2015.06.0008)
Abstract Sex determination is defined as a genetic events that lead to male or female gonadal-development, whereas sexual differentiation is the subsequent steps leading to functional sexuality and secondary sexual characteristics. DSD have an estimated incidence of 0.1 to 0.5% of live births. It presents in several forms e.g., male and female pseudohermaphroditism, gonadaldysgenesis, and true hermaphroditism.
The present study aimed to explore and characterize cytogenetics, molecular alterations, hormonal profile, and clinical aspects of different types of DSD in Sudan for the first time.
The study comprised 70 patients, of which 18 raised as males, and 52 as females. Medical history, physical examination, culturing of lymphocytes, chromosomal analysis, PCR analysis for SRY gene, hormonal profile, pelvic ultrasound, laparoscopic examination (when required), histopathology, and psychological assessment were done.
The vast majority of patients (40%) were adults ≥17-year-old, followed by patients ≤ 2 year-old (33%). Although, 50% of the patients were referred due to genital ambiguity, other cause including primary amenorrhea, failure to thrive, and short stature were reported. Of the 70 patients only 13 patients (19%) were satisfied with their sex of rearing, 5 patients (6%) were not satisfied, 16 patients (23%) could not decide, and 36 patients (51%) were children. Female genital mutilation was performed in almost all adult patients raised as female including those diagnosed as Male pseudohermaphrodites. The analysis showed 23 patients were diagnosed as male pseudohermaphrodites, 2 as testicular feminization syndrome, 14 as complete gonadal dysgenesis, 8 as female pseudohermaphrodites, 6 as true hermaphrodites, 1 as Smith-Lemli-Opitz syndrome, one case of Down syndrome, and 15 patients were under controversial till the end of the study.
Based on the study conclusion one may concludes that multidisciplinary approach remains the best strategy for diagnosis and management of such cases. Labor-attending staff should be well trained to avoid sex assignment errors`. Female genital mutation, if performed in DSD, ends the chance of prepuberty diagnosis and complicates the sex-reassignment constructive surgery.