Anorchism, Testicular Regression Syndrome
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Monorchidism; Testicular regression syndrome (TRS)
Anorchidism is defined as the absence of one (monorchidism) or both testes (testicular regression syndrome) in males with 46, XY karyotype. The monorchidism may be due to a congenital absence of testis or a loss of it (vanishing testis).
Patients with absence of one testis show no other symptoms than an empty scrotum. The diagnosis is confirmed by laparoscopy when observing blind-ended vas deferens and presence of spermatic vessels. In some patients compensatory hypertrophy of the contralateral testis is observed (more than 2 cm3) (Grinspon et al. 2016).
Testicular regression syndrome (TRS) refers to different situations in which patients show from a female phenotype (congenital bilateral absence of testis) to male phenotype (some microorchies and involutions of both testes). Depending on the moment of fetal life in which the testis disappeared, the following syndromes develop: rudimentary testis...
References and Further Reading
- Nataraja, R. M., Yeap, E., Healy, C. J., Nandhra, I. S., Murphy, F. L., Hutson, J. M., & Kimber, C. (2018). Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review. Pediatric Surgery International, 34, 353–361.CrossRefGoogle Scholar
- Vandewalle, S., Van Caenegem, E., Craen, M., Taes, Y., Kaufman, J. M., & T’Sjoen, G. (2018). Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin. Journal of Pediatric Endocrinology & Metabolism, 31, 361–367.CrossRefGoogle Scholar