eMedicine Specialties > Pediatrics: Surgery > Urology

Cryptorchidism: Differential Diagnoses & Workup

Author: Marcos Perez-Brayfield, MD, Consulting Staff, HIMA-San Pablo, San Juan, Puerto Rico
Coauthor(s): Andrew J Kirsch, MD, FAAP, FACS, Clinical Professor of Urology, Emory University School of Medicine, Children's Healthcare of Atlanta; President, Georgia Urology, PA; Adam G Baseman, MD, Pediatric Urologist, North Texas Pediatric Urology Associates, Urology Clinics of North Texas
Contributor Information and Disclosures

Updated: Sep 18, 2009

Differential Diagnoses

Other Problems to Be Considered

Retractile testis
Anorchia
Intra-abdominal testis
Vanishing testis syndrome or nubbin testicle resulting from perinatal torsion

Workup

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 an intersex condition.
    • The evaluation should include chromosomal analysis and measurement of 17-hydroxylase progesterone, testosterone, LH, and follicular-stimulating hormone (FSH).
    • For bilateral nonpalpable testis, abdominal-pelvic ultrasonography is advisable, mainly to determine if any Müllerian structures, such as a uterus, are present.
  • Anorchia can be confirmed with hormonal stimulation (with 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 per 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 MIS. MIS levels that exceed 5 ng/mL suggest the presence of testicular tissue and are an indication for exploration. However, this study is rarely used and may not have any application in older children.

Imaging Studies

  • Imaging studies have little or no role in the diagnosis of cryptorchidism.
  • Ultrasonography, CT scanning, MRI, and angiography have been used to detect undescended testes. However, these studies have unacceptable false-positive and false-negative rates. CT scanning exposes to high levels of radiation, and MRI requires sedation or anesthesia; both are costly.
  • Diagnostic laparoscopy is the most effective and efficient modality to identify an intra-abdominal testis.

Procedures

  • Laparoscopy
    • Diagnostic laparoscopy is the most reliable technique for localizing the nonpalpable testis.
    • Laparoscopy is performed in conjunction with definite therapy (laparoscopic orchiopexy or open orchiopexy).
    • Laparoscopic findings can be helpful in determining the need for inguinal exploration, for deciding between 1-stage and 2-stage repair, and for assessing viability of the gonad.
    • Findings from laparoscopy can also help clarify the anatomy in complex DSD (intersex) cases.

      Diagnostic laparoscopy of a crossed ectopic testi...

      Diagnostic laparoscopy of a crossed ectopic testis.

      Diagnostic laparoscopy of a crossed ectopic testi...

      Diagnostic laparoscopy of a crossed ectopic testis.

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 and/or delayed orchiopexy.

Carcinoma in situ is present in up to 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 2 findings is unclear.

Staging

No staging system is reported. The physical finding of a palpable testis versus a nonpalpable testis is the most reliable and easy way to group cryptorchidism cases.

More on Cryptorchidism

Overview: Cryptorchidism
Differential Diagnoses & Workup: Cryptorchidism
Treatment & Medication: Cryptorchidism
Follow-up: Cryptorchidism
Multimedia: Cryptorchidism
References

References

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Further Reading

Keywords

cryptorchidism, undescended testis, undescended testes, undescended testicles, ectopic testis, ectopic testes, ectopic testicles, retractile testis, retracted testis, retracted testes, retracted testicles, absent testis, absent testes, absent testicles, atrophic testis, atrophic testes, atrophic testicles, hidden testis, hidden testes, hidden testicles, obscure testis, obscure testes, obscure testicles, Fowler Stephens orchidopexy, Fowler-Stephens orchidopexy, testicular maldescent, SRY gene, Hoxa-10 gene, Hoxa-11 gene, intra-abdominal testis, intraabdominal testis, inguinal testis

Contributor Information and Disclosures

Author

Marcos Perez-Brayfield, MD, Consulting Staff, HIMA-San Pablo, San Juan, Puerto Rico
Marcos Perez-Brayfield, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, and American Urological Association
Disclosure: Nothing to disclose.

Coauthor(s)

Andrew J Kirsch, MD, FAAP, FACS, Clinical Professor of Urology, Emory University School of Medicine, Children's Healthcare of Atlanta; President, Georgia Urology, PA
Andrew J Kirsch, MD, FAAP, FACS is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, and Society for Fetal Urology
Disclosure: QMED Grant/research funds Investigation, Consulting; COOK Urological Royalty Consulting

Adam G Baseman, MD, Pediatric Urologist, North Texas Pediatric Urology Associates, Urology Clinics of North Texas
Disclosure: Nothing to disclose.

Medical Editor

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, and Massachusetts Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Harry P Koo, MD, Chairman of Urology Division and Director of Pediatric Urology, Virginia Commonwealth University; Professor of Surgery, VCU 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, and American Urological Association
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic 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, European Society for Paediatric Urology, Johns Hopkins Medical and Surgical Association, New Hampshire Medical Society, Society for Fetal Urology, and Society for Pediatric Urology
Disclosure: Nothing to disclose.

 
 
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