Definition
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).
Clinical Features
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...
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References and Further Reading
Dangle, P., Salgado, C., Reyes-Mugica, M., Schneck, F., Ost, M., & Sims-Lucas, S. (2017). Testicular hypoplasia is driven by defective vascular formation. Urology, 101, 94–98.
Grinspon, R. P., Habib, C., Bedecarrás, P., Gottlieb, S., & Rey, R. A. (2016). Compensatory function of the remaining testis is dissociated in boys and adolescents with monorchidism. European Journal of Endocrinology, 174, 399–407.
Hunter, J. D., Pierce, S. R., Calikoglu, A. S., & Howell, J. O. (2016). Embryonic testicular regression syndrome presenting as primary amenorrhea: A case report and review of disorders of sexual development. Journal of Pediatric and Adolescent Gynecology, 29, e59–e62.
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.
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.
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Nistal, M., González-Peramato, P. (2019). Anorchism, Testicular Regression Syndrome. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4781-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_4781-1
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