Disorders of Sexual Development (DSD)


Disorders of Sexual Development (DSD) refer to congenital conditions in which chromosomal, gonadal, or anatomical sex development is atypical (Hughes et al., 2006). These conditions are classified based on karyotype and underlying etiology, including 46,XX DSD, 46,XY DSD, and sex chromosome DSD (Godfrey, 2021).

Types of DSD

Androgen Insensitivity Syndrome (AIS) 

AIS occurs when individuals with a 46,XY karyotype have a partial or complete inability to respond to androgens, leading to atypical male sexual development (Godfrey, 2021). Complete AIS results in female-typical external genitalia despite a male chromosomal pattern.

Congenital Adrenal Hyperplasia (CAH) 

CAH is a condition affecting 46,XX individuals, characterized by excessive androgen production, leading to masculinization of external genitalia (Ernst et al., 2018). It is one of the most common causes of atypical sexual development.

Gonadal Dysgenesis 

This condition involves incomplete or absent gonadal development, often associated with Turner syndrome (45,X) or Swyer syndrome (46,XY) (Cai et al., 2022). Individuals may have atypical or absent secondary sexual characteristics.

Hypospadias 

Hypospadias is a condition in which the urethral opening is located on the underside of the penis rather than at the tip, affecting individuals with 46,XY DSD (Godfrey, 2021). It is often surgically corrected in infancy.

Ovotesticular

 DSD Formerly known as "true hermaphroditism," this rare condition involves the presence of both ovarian and testicular tissue in the same individual (Ernst et al., 2018). The phenotype varies widely.

Psychological and Social Considerations

Individuals with DSD often experience psychological distress due to gender identity concerns and medical interventions (Cai et al., 2022). Studies indicate higher rates of anxiety and depression among children with DSD compared to their peers (Cai et al., 2022). Psychosocial support is crucial for affected individuals and their families (Ernst et al., 2018).



Post Author

Geoffrey W. Sutton, Professor Emeritus of Psychology at Evangel University, holds a master’s degree in counseling and a PhD in psychology from the University of Missouri-Columbia. His postdoctoral work encompassed education and supervision in forensic and neuropsychology. As a licensed psychologist, he conducted clinical and neuropsychological evaluations and provided psychotherapy for patients in various settings, including schools, hospitals, and private offices. During his tenure as a professor, Dr. Sutton taught courses on psychotherapy, assessment, and research. He has authored over one hundred publications, including books, book chapters, and articles in peer-reviewed psychology journals. His website is https://suttong.com


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References

Cai, J., Zhu, G., Tian, H., Yuan, J., Gao, H., Sun, L., Dong, G., Ru, W., Wu, D., Tang, D., Gao, W., & Yang, R. (2022). Mental health status of children with disorders of sexual development and their correlates. Frontiers in Public Health, 10, 756382. https://doi.org/10.3389/fpubh.2022.756382

Ernst, M. M., Liao, L. M., Baratz, A. B., & Sandberg, D. E. (2018). Disorders of sex development/intersex: Gaps in psychosocial care for children. Pediatrics, 142(2), e20174045. https://doi.org/10.1542/peds.2017-4045

Godfrey, L. M. (2021). Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review. Journal of Health Psychology, 26(1), 40–59. https://doi.org/10.1177/1359105320909863

Hughes, I. A., Houk, C., Ahmed, S. F., & Lee, P. A. (2006). Consensus statement on management of intersex disorders. Archives of Disease in Childhood, 91(7), 554–563. https://doi.org/10.1136/adc.2006.098319

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