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Background <p>The 46,XX testicular difference of sex development is a rare genetic condition linked to primary hypogonadism and male infertility. However, research on how this condition affects male sexual functioning is lacking.</p> Case presentation <p>Here, we describe the several dimensions of sexual function and its related associates in a 27-year-old Egyptian male man who has the disease but did not initially disclose any sexual dysfunction. Using self-administered validated questionnaires, the man demonstrated a reduction in erectile function, sexual desire, and intercourse satisfaction, along with premature ejaculation. Additionally, he had varying degrees of mental disorders, including depression, anxiety, and perceived stress. The hormonal assay revealed hypergonadotropic hypogonadism. The quality of life was poor.</p> Conclusion <p>To the best of our knowledge, this is the first case report that used validated measuring instruments to show detrimental alterations in mood, numerous facets of sexual function, and quality of life in a man with 46,XX testicular difference of sex development. Men with this syndrome should receive a multidisciplinary strategy, which includes coping with hypogonadism and psychological support, in addition to sexual dysfunction treatment. This can help patients enhance their quality of life.</p>

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Sexual functioning, mental health and quality of life in 46,XX male: a case report

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月28日

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  • Nader Salama,
  • Omer Sirelkhatim Hassan,
  • Dario Kuron Lado

摘要

Background

The 46,XX testicular difference of sex development is a rare genetic condition linked to primary hypogonadism and male infertility. However, research on how this condition affects male sexual functioning is lacking.

Case presentation

Here, we describe the several dimensions of sexual function and its related associates in a 27-year-old Egyptian male man who has the disease but did not initially disclose any sexual dysfunction. Using self-administered validated questionnaires, the man demonstrated a reduction in erectile function, sexual desire, and intercourse satisfaction, along with premature ejaculation. Additionally, he had varying degrees of mental disorders, including depression, anxiety, and perceived stress. The hormonal assay revealed hypergonadotropic hypogonadism. The quality of life was poor.

Conclusion

To the best of our knowledge, this is the first case report that used validated measuring instruments to show detrimental alterations in mood, numerous facets of sexual function, and quality of life in a man with 46,XX testicular difference of sex development. Men with this syndrome should receive a multidisciplinary strategy, which includes coping with hypogonadism and psychological support, in addition to sexual dysfunction treatment. This can help patients enhance their quality of life.