| Keywords [eng] |
Sex differentiation, Disorders of sex development, Diverse Sex Development, Genetics, Hormonal regulation, Klinefelter Syndrome, Turner Syndrome, Androgen insensitivity syndrome, Environmental factors, Ethics, Gender identity, |
| Abstract [eng] |
This work explores the complexities that can arise in sex development, from normal biological processes to developmental deviations that lead to disorders of sex development. Normal biological sex differentiation is determined by hormonal and genetic factors where the sex chromosomes XY and XX determine the path of the first developmental stages. Pivotal genes such as SRY, SOX9, and WNT4 play crucial roles in gonadal development, where ovaries develop in the absence of the Y chromosome and testicles develop in the presence of it. Hormonal regulation, including testosterone and the anti-Mullerian hormone, affects the further formation of the sex organs and secondary sex characteristics. Gene mutations, hormonal imbalances, or environmental factors can cause deviations in sex development. Disorders of sex development can be classified into three main groups based on the karyotype of the affected individual: Sex chromosomal DSD, 46, XY DSD, and 46, XX DSD. We discuss in detail sex chromosomal deviations such as Klinefelter's and Turner’s syndrome, gonadal deviations such as Swyers syndrome, hormonal deviations such as androgen insensitivity syndrome and 5-alpha reductase deficiency. These conditions can lead to ambiguous sex development, infertility, and medical or psychological challenges. This work also explores psychosocial and environmental factors such as exposure to endocrine disruptors, the mother’s health during pregnancy, and cultural norms that influence gender identity and self-image. Ethical issues surrounding consent, autonomy, and surgical interventions are also discussed, with a focus on person-centered care and a multidisciplinary approach to treating individuals with differences in sex development. |
