Synonyms
Monorchidism; Testicular regression syndrome (TRS)
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...
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2020 Springer Nature Switzerland AG
About this entry
Cite this entry
Nistal, M., González-Peramato, P. (2020). Anorchism, Testicular Regression Syndrome. In: Raspollini, M.R., Lopez-Beltran, A. (eds) Uropathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-41894-6_4781
Download citation
DOI: https://doi.org/10.1007/978-3-030-41894-6_4781
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-41893-9
Online ISBN: 978-3-030-41894-6
eBook Packages: MedicineReference Module Medicine