XX Testicular Disorder of Sex Development (DSD)

XX male syndrome, also known as de la Chapelle syndrome or 46,XX testicular disorder of sex development (DSD), is a rare genetic condition in which individuals with a 46,XX karyotype—typically associated with females—develop a male phenotype. This condition occurs in approximately 1 in 20,000 to 25,000 live male births (Vorona et al., 2007).

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XX DSD is a developmental difference. Individuals with XX DSD and their families may benefit from psychological support alongside medical consultation. This post provides mental health professionals with a concise overview. Additionally, general readers may find this information useful to better understand the complexities faced by those whose sexual characteristics—either at birth or during development—do not align with typical male or female patterns.

Summary

The majority of cases (around 80–90%) are SRY-positive, meaning the SRY gene—normally located on the Y chromosome—is translocated to one of the X chromosomes during paternal meiosis. The presence of this gene initiates testicular development and male differentiation (Rajender et al., 2006). SRY-negative individuals, on the other hand, often present with ambiguous genitalia, gynecomastia, or delayed puberty, and the underlying genetic mechanisms in these cases are not yet well understood (Grigorescu-Sido et al., 2005).

Clinical features vary depending on SRY status. Most SRY-positive individuals have normal male external genitalia, although they typically experience small testes and azoospermia, resulting in infertility. Shorter stature compared to typical males and gynecomastia during adolescence are also common. In SRY-negative cases, ambiguous genitalia may be observed, prompting earlier medical attention.

Diagnosis often occurs during adulthood when patients seek evaluation for infertility, or during childhood if genital ambiguity is evident. Diagnostic workups include karyotyping, analysis of the SRY gene, and hormonal profiling (Uçan et al., 2013). Medical management strategies are individualized and may include testosterone therapy to enhance virilization and reduce gynecomastia, surgical intervention to address ambiguous genitalia, and psychological counseling to support emotional development and identity formation. Fertility counseling is also crucial, with discussions centered around options like adoption and sperm donation.

Coping strategies depend on both the phenotype and the age at diagnosis. Individuals raised as males commonly maintain a male gender identity and adapt well, particularly when supported by medical and psychological care. Peer support groups, genetic counseling, and educational resources serve as valuable aids for both individuals and families. Research highlights the importance of early diagnosis, honest and informed communication, and multidisciplinary care in promoting resilience and mental well-being (Biesecker, 2001).

Note

This page is for education and not personal advice. Consult health care providers for the most recent information and personal concerns.

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 and psychopharmacology. 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 You can find Dr. Sutton's books on   AMAZON    and  GOOGLE. Many publications are free to download at ResearchGate   and Academia  

 

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References

Biesecker, B. (2001). Prenatal diagnoses of sex chromosome conditions: Parents need more than just accurate information. British Medical Journal, 322(7280), 441–442.

Grigorescu-Sido, A., Heinrich, U., Grigorescu-Sido, P., et al. (2005). Three new 46,XX male patients: A clinical, cytogenetic and molecular analysis. Journal of Pediatric Endocrinology and Metabolism, 18(2), 197–203.

Rajender, S., Rajani, V., Gupta, N. J., et al. (2006). SRY-negative 46,XX male with normal genitals, complete masculinization and infertility. Molecular Human Reproduction, 12(5), 341–346. https://doi.org/10.1093/molehr/gal030

Uçan, B., Özbek, M., Topaloğlu, O., et al. (2013). 46,XX male syndrome: Hormonal, molecular and cytogenetic findings in an adult male. Turkish Journal of Endocrinology and Metabolism, 17, 46–48.

Vorona, E., Zitzmann, M., Gromoll, J., et al. (2007). Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. The Journal of Clinical Endocrinology & Metabolism, 92(9), 3458–3465. https://doi.org/10.1210/jc.2007-0447