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Bilateral Anorchia: Vanishing Testis Syndrome

Definition of the Vanishing Testis Syndrome

Bilateral anorchia, or the vanishing testis syndrome, is a loss of testicular function during fetal development. It leads, depending on the time of the damage, to more or less pronounced undervirilization of the male child with absent testes. The maximum variation is the loss of testicular function before the 8th week of fetal development, with female differentiation of the internal and external sex organs. The internal female sex organs may be missing if the anti-Müllerian hormone was secreted before loss of the testes. The minimal variation leads to male newborns with normal genitals but without detectable testicular function.

Diagnosis of the Vanishing Testis Syndrome

The testosterone concentration after HCG stimulation does not show an adequate increase. Concentrations of anti-Müllerian hormone and inhibin are low. Diagnostic laparoscopy confirms the absence of testicular tissue (McEachern, 2004).

Treatment of Bilateral Anorchia

Patients with a male phenotype will need lifelong testosterone substitution. If the phenotype is obviously female, puberty is induced with estrogen, and the female gender role is supported. Individualized treatment decisions are necessary for patients with ambiguous external genitalia.

References

McEachern, R.; Houle, A.; Garel, L. & Vliet, G. V. Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia.
Horm Res, 2004, 62, 124-128

C. Radmayr, G. Bogaert, H. S. Dogan, and Tekg&uuml, “EAU Guidelines: Paediatric Urology,” 2022. [Online]. Available: https://uroweb.org/guidelines/paediatric-urology/.

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