Laboratory Studies

Routine laboratory workup is not indicated with unilateral cryptorchidism.

Patients with bilateral nonpalpable testis and those with unilateral or bilateral undescended testis associated with hypospadias should undergo evaluation to rule out a difference (disorder) of sex development (DSD). The evaluation should include chromosomal analysis and measurement of 17-hydroxylase progesterone, testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH). For bilateral nonpalpable testis, abdominal-pelvic ultrasonography (US) is advisable, mainly to determine if any müllerian structures (eg, a uterus) are present.

Anorchia can be confirmed by means of hormonal stimulation with human chorionic gonadotropin (hCG), with baseline and poststimulation measurement of LH, FSH, and testosterone hormone levels. Many hCG stimulation protocols are described. The authors favor a single injection of hCG 2940 IU/m² body surface area, with hormonal levels assessed at 72 hours. Anorchia is found in patients with elevated baseline LH and FSH levels and low testosterone levels without an increase in testosterone after stimulation.

Another marker of testicular function is müllerian-inhibiting substance (MIS; also known as antimüllerian hormone [AMH]).^[15]MIS levels that exceed 5 ng/mL suggest the presence of testicular tissue and are an indication for exploration. However, this study is not yet in widespread use, and its applicability to older children remains to be defined.

Imaging Studies

Imaging studies have little or no role in the diagnosis of cryptorchidism.

US, computed tomography (CT), magnetic resonance imaging (MRI), and angiography have been used to detect undescended testes. However, these studies have unacceptable false-positive and false-negative rates. CT exposes the patient to high levels of radiation, and MRI requires sedation or anesthesia; both are costly.^[16]

Diagnostic Laparoscopy

Diagnostic laparoscopy (see the image below) is the most reliable technique for localizing the nonpalpable testis.^[17]It is performed in conjunction with definitive therapy (laparoscopic orchiopexy or open orchiopexy). Laparoscopic findings can be helpful in determining the need for inguinal exploration, for deciding between one-stage and two-stage repair, and for assessing gonadal viability. They can also help clarify the anatomy in complex DSD cases.

Diagnostic laparoscopy of a crossed ectopic testis.

View Media Gallery

Histologic Findings

The histologic findings of an undescended testis range from normal histology to acquired germ cell hypoplasia with Leydig cell hyperplasia. The severity of the histologic findings is correlated with an intra-abdominal testis, delayed orchiopexy, or both.

Carcinoma in situ is present in as many as 8% of infertile patients undergoing testicular biopsy with a history of orchiopexy. In children with undescended testis, the overall incidence of carcinoma in situ is approximately 0.4%. The clinical significance of these two findings is unclear.

Treatment & Management

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Bishop BM, Anderson KM. Cryptorchidism Review for the Primary Care Provider. S D Med. 2023 May. 76 (5):222-228. [QxMD MEDLINE Link].
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Sharma S, Sen A. Complete testicular epididymal dissociation in the abdominal cryptorchid testis. J Pediatr Urol. 2013 Dec. 9 (6 Pt B):1023-7. [QxMD MEDLINE Link].
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Ayers K, Kumar R, Robevska G, Bruell S, Bell K, Malik MA, et al. Familial bilateral cryptorchidism is caused by recessive variants in RXFP2. J Med Genet. 2019 Nov. 56 (11):727-733. [QxMD MEDLINE Link]. [Full Text].
Tian Q, Zhao X, Zhang C, Yu K, Fang E, Zhou X, et al. Compared outcomes of high-level cryptorchidism managed by Fowler-Stephens orchiopexy versus the Shehata technique: A systematic review and meta-analysis. J Pediatr Urol. 2023 Jun. 19 (3):313-319. [QxMD MEDLINE Link].
Wood HM, Elder JS. Cryptorchidism and testicular cancer: separating fact from fiction. J Urol. 2009 Feb. 181 (2):452-61. [QxMD MEDLINE Link].
Piltoft JS, Larsen SB, Dalton SO, Johansen C, Baker JL, Cederkvist L, et al. Early life risk factors for testicular cancer: a case-cohort study based on the Copenhagen School Health Records Register. Acta Oncol. 2017 Feb. 56 (2):220-224. [QxMD MEDLINE Link].
Florou M, Tsilidis KK, Siomou E, Koletsa T, Syrnioti A, Spyridakis I, et al. Orchidopexy for congenital cryptorchidism in childhood and adolescence and testicular cancer in adults: an updated systematic review and meta-analysis of observational studies. Eur J Pediatr. 2023 Jun. 182 (6):2499-2507. [QxMD MEDLINE Link].
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Media Gallery

Hypoplastic right hemiscrotum in a patient with an undescended right testis.
Ectopic testis.
Diagnostic laparoscopy of a crossed ectopic testis.

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Author

Marcos Perez-Brayfield, MD Consulting Staff, HIMA-San Pablo; Associate Professor, University of Puerto Rico School of Medicine

Marcos Perez-Brayfield, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Urological Association

Disclosure: Nothing to disclose.

Coauthor(s)

Andrew J Kirsch, MD, FAAP, FACS Clinical Professor of Urology, Chief of Pediatric Urology, Emory University School of Medicine, Children's Healthcare of Atlanta; Partner, Georgia Urology, PA

Andrew J Kirsch, MD, FAAP, FACS is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, Society for Fetal Urology

Disclosure: Nothing to disclose.

Adam G Baseman, MD Pediatric Urologist, North Texas Pediatric Urology Associates, Urology Clinics of North Texas

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Harry P Koo, MD Chairman of Urology Division, Director of Pediatric Urology, Professor of Surgery, Virginia Commonwealth University School of Medicine, Medical College of Virginia; Director of Urology, Children's Hospital of Richmond

Harry P Koo, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Urological Association

Disclosure: Nothing to disclose.

Chief Editor

Marc Cendron, MD Associate Professor of Surgery, Harvard School of Medicine; Consulting Staff, Department of Urological Surgery, Children's Hospital Boston

Marc Cendron, MD is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, New Hampshire Medical Society, Societies for Pediatric Urology, Society for Fetal Urology, Johns Hopkins Medical and Surgical Association, European Society for Paediatric Urology

Disclosure: Nothing to disclose.

Additional Contributors

Bartley G Cilento, Jr, MD Instructor, Department of Surgery, Division of Urology, Children's Hospital of Boston and Harvard Medical School

Bartley G Cilento, Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, Massachusetts Medical Society

Disclosure: Nothing to disclose.

Sections Pediatric Cryptorchidism Surgery
Overview
Presentation
DDx
Workup
Treatment
Guidelines
Medication
Media Gallery
References

Pediatric Cryptorchidism Surgery Workup

Laboratory Studies

Imaging Studies

Diagnostic Laparoscopy

Histologic Findings

References

Tables

Contributor Information and Disclosures

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