Abstract
Disorders of Sex Development (DSD) are congenital conditions in which the chromosomal, gonadal, or anatomical development of sex is atypical. DSD can occur due to variations in sex chromosomes or autosomes, in genes related to gonadal or genital development, or in alterations in hormone production by the reproductive organs. These conditions can range from common abnormalities such as cryptorchidism and hypospadias to rare and complex conditions such as complete sex reversal. This study analyzed the clinical and cytogenetic profile of individuals suspected of DSD who underwent karyotype testing in the state of Piauí from 2020 to 2022. Out of the 250 patients evaluated, 21% were suspected of having DSD, with a predominance of females (60%). Turner syndrome was the most common clinical suspicion, followed by ambiguous genitalia, Klinefelter syndrome, and micropenis. The results emphasize the importance of early diagnosis and psychological support for parents and individuals with DSD, aiming for appropriate treatment and the promotion of a healthy and satisfying life. Additionally, the study highlighted the need for the implementation of molecular tests to reach a conclusive diagnosis when DSD is not of chromosomal origin.
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