Undescended testes (cryptorchidism) in children: Clinical features and evaluation
- Christopher S Cooper, MD, FACS, FAAP
Christopher S Cooper, MD, FACS, FAAP
- Professor of Urology
- University of Iowa College of Medicine
- Steven G Docimo, MD
Steven G Docimo, MD
- Professor of Urology
- University of Pittsburgh School of Medicine
- Section Editors
- Jan E Drutz, MD
Jan E Drutz, MD
- Section Editor — General Pediatrics
- Professor of Pediatrics
- Baylor College of Medicine
- Laurence S Baskin, MD, FAAP
Laurence S Baskin, MD, FAAP
- Section Editor — Pediatric Urology
- Frank Hinman, Jr., MD, Distinguished Professorship in Pediatric Urology
- Chief Pediatric Urology
- Professor of Urology and Pediatrics
- UCSF Benioff Children's Hospital
- Mitchell E Geffner, MD
Mitchell E Geffner, MD
- Section Editor — Pediatric Endocrinology
- Professor of Pediatrics
- Keck School of Medicine, University of Southern California
Cryptorchidism is the most common congenital abnormality of the genitourinary tract . Most cryptorchid testes are undescended, but some are absent (due to agenesis or atrophy).
The clinical features and evaluation of cryptorchidism will be discussed here. The management of undescended testes is discussed separately. (See "Undescended testes (cryptorchidism) in children: Overview of management".)
Cryptorchidism – Cryptorchidism by definition suggests a hidden testis: a testis that is not within the scrotum and does not descend spontaneously into the scrotum by four months of age (or corrected age for premature infants) (picture 1). Cryptorchid testes may be absent or undescended.
Absent testis – An absent testis may be due to agenesis or atrophy secondary to intrauterine vascular compromise (eg, prenatal testicular torsion), also known as the "vanishing testis syndrome" or testicular regression syndrome . Boys who have bilaterally absent testes have anorchia. (See "Neonatal testicular torsion", section on 'Prenatal'.)
Undescended testes – True undescended testes have stopped short along their normal path of descent into the scrotum (figure 1). They may remain in the abdominal cavity (picture 2) or they may be palpable in the inguinal canal (intracanalicular) or just outside the external ring (suprascrotal (picture 3)) .
- Wood HM, Elder JS. Cryptorchidism and testicular cancer: separating fact from fiction. J Urol 2009; 181:452.
- Pirgon Ö, Dündar BN. Vanishing testes: a literature review. J Clin Res Pediatr Endocrinol 2012; 4:116.
- Pillai SB, Besner GE. Pediatric testicular problems. Pediatr Clin North Am 1998; 45:813.
- Keys C, Heloury Y. Retractile testes: a review of the current literature. J Pediatr Urol 2012; 8:2.
- Docimo SG. Testicular descent and ascent in the first year of life. Urology 1996; 48:458.
- Schiffer KA, Kogan SJ, Reda EF, Levitt SB. Acquired undescended testes. Am J Dis Child 1987; 141:106.
- Gracia J, Navarro E, Guirado F, et al. Spontaneous ascent of the testis. Br J Urol 1997; 79:113.
- Hack WW, Meijer RW, Van Der Voort-Doedens LM, et al. Previous testicular position in boys referred for an undescended testis: further explanation of the late orchidopexy enigma? BJU Int 2003; 92:293.
- Husmann DA, Levy JB. Current concepts in the pathophysiology of testicular undescent. Urology 1995; 46:267.
- Hutson JM. Journal of Pediatric Surgery-Sponsored Fred McLoed Lecture. Undescended testis: the underlying mechanisms and the effects on germ cells that cause infertility and cancer. J Pediatr Surg 2013; 48:903.
- Wensing CJ. The embryology of testicular descent. Horm Res 1988; 30:144.
- Attah AA, Hutson JM. The role of intra-abdominal pressure in cryptorchidism. J Urol 1993; 150:994.
- Rajfer J, Walsh PC. Hormonal regulation of testicular descent: experimental and clinical observations. J Urol 1977; 118:985.
- Shenker NS, Huynh J, Farmer PJ, Hutson JM. A new role for androgen in testicular descent: permitting gubernacular cell proliferation in response to the neuropeptide, calcitonin gene-related peptide. J Pediatr Surg 2006; 41:407.
- Hutson JM, Balic A, Nation T, Southwell B. Cryptorchidism. Semin Pediatr Surg 2010; 19:215.
- Virtanen HE, Cortes D, Rajpert-De Meyts E, et al. Development and descent of the testis in relation to cryptorchidism. Acta Paediatr 2007; 96:622.
- Huff DS, Hadziselimović F, Snyder HM 3rd, et al. Early postnatal testicular maldevelopment in cryptorchidism. J Urol 1991; 146:624.
- Hadziselimović F, Geneto R, Emmons LR. Elevated placental estradiol: a possible etiological factor of human cryptorchidism. J Urol 2000; 164:1694.
- Huff DS, Hadziselimovic F, Snyder HM 3rd, et al. Postnatal testicular maldevelopment in unilateral cryptorchidism. J Urol 1989; 142:546.
- Yamanaka J, Baker M, Metcalfe S, Hutson JM. Serum levels of Mullerian inhibiting substance in boys with cryptorchidism. J Pediatr Surg 1991; 26:621.
- Rabinowitz R, Hulbert WC Jr. Late presentation of cryptorchidism: the etiology of testicular re-ascent. J Urol 1997; 157:1892.
- Barthold JS, González R. The epidemiology of congenital cryptorchidism, testicular ascent and orchiopexy. J Urol 2003; 170:2396.
- Virtanen HE, Bjerknes R, Cortes D, et al. Cryptorchidism: classification, prevalence and long-term consequences. Acta Paediatr 2007; 96:611.
- Cryptorchidism: a prospective study of 7500 consecutive male births, 1984-8. John Radcliffe Hospital Cryptorchidism Study Group. Arch Dis Child 1992; 67:892.
- Zakaria M, Azab S, El baz M, et al. Cryptorchidism in Egyptian neonates. J Pediatr Urol 2013; 9:815.
- Boyd HA, Myrup C, Wohlfahrt J, et al. Maternal serum alpha-fetoprotein level during pregnancy and isolated cryptorchidism in male offspring. Am J Epidemiol 2006; 164:478.
- Schneuer FJ, Holland AJ, Pereira G, et al. Age at Surgery and Outcomes of an Undescended Testis. Pediatrics 2016; 137:e20152768.
- Berkowitz GS, Lapinski RH, Dolgin SE, et al. Prevalence and natural history of cryptorchidism. Pediatrics 1993; 92:44.
- Ritzén EM, Kollin C. Management of undescended testes: how and when? Pediatr Endocrinol Rev 2009; 7:32.
- Boisen KA, Kaleva M, Main KM, et al. Difference in prevalence of congenital cryptorchidism in infants between two Nordic countries. Lancet 2004; 363:1264.
- Nah SA, Yeo CS, How GY, et al. Undescended testis: 513 patients' characteristics, age at orchidopexy and patterns of referral. Arch Dis Child 2014; 99:401.
- Kolon TF, Herndon CD, Baker LA, et al. Evaluation and treatment of cryptorchidism: AUA guideline. J Urol 2014; 192:337.
- Virtanen HE, Adamsson A. Cryptorchidism and endocrine disrupting chemicals. Mol Cell Endocrinol 2012; 355:208.
- Cortes D. Cryptorchidism--aspects of pathogenesis, histology and treatment. Scand J Urol Nephrol Suppl 1998; 196:1.
- Cortes D, Thorup JM, Beck BL, Visfeldt J. Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5. APMIS 1998; 106:953.
- Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E. Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations. Am J Med Genet 2000; 95:169.
- Rundle JS, Primrose DA, Carachi R. Cryptorchism in cerebral palsy. Br J Urol 1982; 54:170.
- Marshall FF. Anomalies associated with cryptorchidism. Urol Clin North Am 1982; 9:339.
- Rajfer J, Walsh PC. The incidence of intersexuality in patients with hypospadias and cryptorchidism. J Urol 1976; 116:769.
- Kaefer M, Diamond D, Hendren WH, et al. The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position. J Urol 1999; 162:1003.
- Tasian GE, Zaid H, Cabana MD, Baskin LS. Proximal hypospadias and risk of acquired cryptorchidism. J Urol 2010; 184:715.
- Saleem M, Ather U, Mirza B, et al. Persistent mullerian duct syndrome: A 24-year experience. J Pediatr Surg 2016; 51:1721.
- Ferlin A, Zuccarello D, Zuccarello B, et al. Genetic alterations associated with cryptorchidism. JAMA 2008; 300:2271.
- Foresta C, Zuccarello D, Garolla A, Ferlin A. Role of hormones, genes, and environment in human cryptorchidism. Endocr Rev 2008; 29:560.
- Kirsch AJ, Escala J, Duckett JW, et al. Surgical management of the nonpalpable testis: the Children's Hospital of Philadelphia experience. J Urol 1998; 159:1340.
- Ferrer FA, McKenna PH. Current approaches to the undescended testicle. Contemp Pediatr 2000; 17:106.
- Redman JF. Impalpable testes: observations based on 208 consecutive operations for undescended testes. J Urol 1980; 124:379.
- Smolko MJ, Kaplan GW, Brock WA. Location and fate of the nonpalpable testis in children. J Urol 1983; 129:1204.
- Wenzler DL, Bloom DA, Park JM. What is the rate of spontaneous testicular descent in infants with cryptorchidism? J Urol 2004; 171:849.
- Aynsley-Green A, Zachmann M, Illig R, et al. Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. Clin Endocrinol (Oxf) 1976; 5:381.
- Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006; 118:e488.
- Fenig DM, Snyder HM 3rd, Wu HY, et al. The histopathology of iatrogenic cryptorchid testis: an insight into etiology. J Urol 2001; 165:1258.
- Surana R, Puri P. Iatrogenic ascent of the testis: an under-recognized complication of inguinal hernia operation in children. Br J Urol 1994; 73:580.
- Silver RI, Docimo SG. Cryptorchidism. In: Pediatric Urology Practice, Gonzales ET, Bauer SB (Eds), Lippincott-Raven, Philadelphia 1999. p.499.
- Sheldon CA. The pediatric genitourinary examination. Inguinal, urethral, and genital diseases. Pediatr Clin North Am 2001; 48:1339.
- Marshall FF, Weissman RM, Jeffs RD. Cryptorchidism: the surgical implications of non-union of the epididymis and testis. J Urol 1980; 124:560.
- Belman AB, Rushton HG. Is an empty left hemiscrotum and hypertrophied right descended testis predictive of perinatal torsion? J Urol 2003; 170:1674.
- Koff SA. Does compensatory testicular enlargement predict monorchism? J Urol 1991; 146:632.
- McAleer IM, Kaplan GW. Is routine karyotyping necessary in the evaluation of hypospadias and cryptorchidism? J Urol 2001; 165:2029.
- Scorer CG, Farrington GH. Congenital Deformities of the Testis and Epididymis, Appleton-Century-Crofts, New York 1972.
- Elder JS. Cryptorchidism: isolated and associated with other genitourinary defects. Pediatr Clin North Am 1987; 34:1033.
- Tasian GE, Copp HL. Diagnostic performance of ultrasound in nonpalpable cryptorchidism: a systematic review and meta-analysis. Pediatrics 2011; 127:119.
- Penson DF, Krishnaswami S, Jules A, et al. Evaluation and treatment of cryptorchidism. Comparative Effectiveness Review No. 88. AHRQ December 2012. http://www.effectivehealthcare.ahrq.gov/ehc/products/300/1353/CER88_Cryptorchidism_FinalReport_20121207.pdf (Accessed on January 11, 2013).
- Tasian GE, Copp HL, Baskin LS. Diagnostic imaging in cryptorchidism: utility, indications, and effectiveness. J Pediatr Surg 2011; 46:2406.
- Bajpai A, Kabra M, Menon PS. 21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children. Indian Pediatr 2004; 41:1226.
- Misra M, MacLaughlin DT, Donahoe PK, Lee MM. Measurement of Mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism. J Clin Endocrinol Metab 2002; 87:3598.
- Jarow JP, Berkovitz GD, Migeon CJ, et al. Elevation of serum gonadotropins establishes the diagnosis of anorchism in prepubertal boys with bilateral cryptorchidism. J Urol 1986; 136:277.
- Lee MM, Donahoe PK, Silverman BL, et al. Measurements of serum müllerian inhibiting substance in the evaluation of children with nonpalpable gonads. N Engl J Med 1997; 336:1480.
- Grant DB, Laurance BM, Atherden SM, Ryness J. HCG stimulation test in children with abnormal sexual development. Arch Dis Child 1976; 51:596.
- Merksz M, Tóth J, Pirót L. Testosterone secretion in children with undescended testis. Int Urol Nephrol 1992; 24:429.
- Davenport M, Brain C, Vandenberg C, et al. The use of the hCG stimulation test in the endocrine evaluation of cryptorchidism. Br J Urol 1995; 76:790.
- EPIDEMIOLOGY AND RISK FACTORS
- ASSOCIATED CONDITIONS
- CLINICAL FEATURES
- COMPLICATIONS AND SEQUELAE
- - General examination
- - Examination of the testes and genitalia
- DIAGNOSTIC APPROACH
- Palpable cryptorchid testes
- Unilateral nonpalpable testis
- - Unilateral nonpalpable testis and hypospadias
- Bilateral nonpalpable testes
- - Newborn
- - Older child
- INDICATIONS FOR REFERRAL
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS