15th April 2024

Cryptorchidism

Cryptorchidism refers to the absence of the testes from the scrotum either unilaterally or bilaterally. It may be bilateral in up to 30% of patients and about 80% of undescended testis can be palpated.

Aetiology

Cryptorchidism can occur as a result of anatomical, hormonal or genetic abnormalities. However, most patients have no identifiable cause for their presentation.

Cryptorchidism can be caused by anatomical abnormalities and hormonal abnormalities, including deficiency of androgens (testosterone), GnRH deficiency, LH/FSH deficiency or insensitivity of the GnRH/LH/testosterone receptors. Mutations in the genes for the androgen receptor, the gene for the 5a-reductase or CAG repeat length may be associated with cryptorchidism.

Presentation

Cryptorchidism is a relatively common presentation in new-borns with a prevalence between 1.8% to 8.4%. It is typically identified by manual palpation during the new born physical examination. The position of the testis can be classified as:

• Cryptorchid – This is a testis that is not located within the scrotum and can’t be manipulated to reposition it into the scrotum
• Ectopic – An ectopic testis is a testis that has not followed the normal developmental route of the testis during descent, it may be femoral, perineal, pubopenile or crossed scrotal
• Gliding – A testis which can be manipulated to be located in the upper scrotum but once the manipulation is stopped, the testis retract to their original position
• Retractile – A testis which can be manipulated to be located in the scrotum and does not immediately return to its original position (15)
• Acquired – In a patient born with scrotal testis, if they later ascend to a higher position, this is known as acquired cryptorchidism

Management

Screening of all new born babies should take place within 72 hours of birth and at 6-8 weeks of birth, which should involve evaluation of the scrotum for the presence of the testis, if not identified, the child should be reviewed at 4-5  months in case of spontaneous descent of the testes, if still undescended these patients should be urgency referred to a surgeon.

A child presenting with bilateral impalpable testis, abnormalities of the penis or ambiguous genitalia requires urgent referral to a tertiary paediatric centre for identification of disorders of sexual differentiation.  

Surgical treatment

If the testis are palpable during examination, they should be treated with orchidopexy (release of the undescended testis and fixation in the scrotum) via either an inguinal or scrotal approach.  If the testis are not palpable examination under anaesthesia (EUA) along with inguinal exploration/diagnostic laparoscopy is needed to identify the site of the testis to facilitate a subsequent orchidopexy/orchidectomy.

References

• Radmayr C. Management of undescended testes: European Association of Urology/European Society for Paediatric Urology guidelines. J Pediatr Urol. 2017;13(5):550.
• Titi-Lartey OA, Khan YS. Embryology, Testicle.  StatPearls. Treasure Island (FL)2022.
• Virtanen HE, Toppari J. Epidemiology and pathogenesis of cryptorchidism. Hum Reprod Update. 2008;14(1):49-58.
• Niedzielski JK, Oszukowska E, Slowikowska-Hilczer J. Undescended testis – current trends and guidelines: a review of the literature. Arch Med Sci. 2016;12(3):667-77.
• Rodprasert W, Virtanen HE, Mäkelä JA, Toppari J. Hypogonadism and Cryptorchidism. Front Endocrinol (Lausanne). 2019;10:906.
• National Institute for Health and Care Excellence: Clinical Guidelines.  Postnatal care. London: National Institute for Health and Care Excellence (NICE) Copyright © NICE 2021.; 2021.
• Cho A, Thomas J, Perera R, Cherian A. Undescended testis. BMJ. 2019;364:l926.