Investigations
1st investigations to order
clinical diagnosis
Test
Imaging and/or laboratory evaluation are not generally recommended.
Result
usually noted on routine physical examination
Investigations to consider
ultrasound
Test
Current evidence does not support routine imaging for cryptorchidism.[55][56][57] Ultrasound does not reliably localise intra-abdominal non-palpable testes.[58][67][68] Furthermore, there is an elevated risk of malignant degeneration of an intra-abdominal testis left in situ.
For infants with bilateral cryptorchidism referred for evaluation of a difference in sex development (DSD), ultrasound is recommended first-line to delineate internal genitalia and assess renal anatomy and drainage.[31]
Typically, laparoscopic surgical exploration is recommended for all non-palpable unilateral testicles, and many bilateral cryptorchid patients.[58]
Result
testis can be identified, either within the inguinal canal or as it emerges into the superficial inguinal pouch
magnetic resonance imaging (MRI)
Test
Current evidence does not support routine imaging for cryptorchidism.[55][56][57]
Meta-analysis of prospective case series investigating the use of MRI to detect non-palpable undescended testes reported low sensitivity (62% for MRI) and poor reliability in accurately localising testes.[69]
Some physicians consider MRI/magnetic resonance angiogram (MRA) to be the best of the imaging modalities for non-palpable testis; it may be cost-effective in institutional protocols that observe inguinal nubbins.[67][68][70][71] Need for anaesthesia may preclude MRI. Typically, laparoscopic surgical exploration is recommended for all non-palpable unilateral testicles, and many bilateral cryptorchid patients.[58]
Result
testis is identified along its normal path of descent
hormonal evaluation with human chorionic gonadotrophin (hCG) stimulation test
Test
Rarely required. Ordered for bilateral non-palpable testes to determine presence or absence of testes. The hCG stimulation test demonstrates no increase in plasma testosterone after hCG stimulation when testes are absent, with positive and negative predictive values of 89% and 100%, respectively.[62]
Result
no increase in testosterone after hCG, in conjunction with elevated basal rates of gonadotrophins LH and follicle-stimulating hormone, signifies that the testes are absent
hormonal evaluation with Mullerian inhibiting substance (MIS), inhibin B, and follicle-stimulating hormone (FSH)
Test
A phenotypic 46 XY male with bilateral non-palpable testes has anorchia if inhibin and MIS levels are undetectable, and FSH is elevated, making neither the hCG stimulation test nor surgical exploration necessary.[59][60][72]
Inhibin B is a potential candidate for early identification of testicular dysfunction before or after orchiopexy for cryptorchidism; however, a clear role has not yet been defined.[73]
Result
signifies that the testes are absent
karyotyping
Test
Patients with bilateral cryptorchidism should be screened with karyotyping for a difference of sex development.[31]
Result
may show abnormal karyotype
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