Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male)


  • Diana Morais Costa General and Family Medicine, Unidade de Saúde Familiar Bom Porto, Agrupamento de Centros de Saúde do Grande Porto V - Porto Ocidental
  • Nuno Teles Pinto General and Family Medicine, Unidade de Saúde Familiar Fânzeres, Agrupamento de Centros de Saúde do Grande Porto II - Gondomar
  • Ana Sofia Marinho Department of Pediatric Surgery, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • João Moreira Pinto Department of Pediatric Surgery, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto; EPIUnit - Instituto de Saúde Pública, Universidade do Porto



anomaly, children, external genitalia, anomalies, physical examination, children, male, male, physical examination


Introduction: Findings in the physical examination of the external genitalia in children are often a source of concern for parents and caregivers, not only for the emotional significance that people unconsciously attribute to these structures (partly due to their reproductive function), but also for the physical and psychological impact in the child.

Due to the child’s close monitoring and periodic surveillance, the family physician has a key role in the identification and initial guidance of these cases.

Objectives: To review the evidence about main variations and anomalies of the external male genitalia in pediatric age regarding diagnosis and clinical approach in primary health care.

Results: In most cases, anomalies in the external male genitalia represent variants of normal and/or do not significantly affect function, thus only requiring clinical surveillance and no intervention. However, some cases − as epispadias, hypospadias, and urethral duplication − require surgical intervention and early action is crucial for the success of implemented measures.

Conclusion: Physical examination is a key aspect of child assessment. Although changes in physical examination of the external male genitalia mostly represent normality variants, clinicians should be able to recognize pathological changes and properly refer those cases without overloading health services or causing unnecessary anxiety to children and caregivers.


Download data is not yet available.


Kumar P, Deb M, Das K. Preputial adhesions—a misunderstood entity. The Indian Journal of Pediatrics. 2009; 76:829.

Dias M, Silva A R. Genitais externos masculinos – patologia comum em idade pediátrica. AIMGF Magazine. 2014.

Hayashi Y, Kojima Y, Mizuno K, Kohri K. Prepuce: phimosis, paraphimosis, and circumcision. The Scientific World Journal. 2011; 11:289-301.

Wilcox D. Care of the uncircumcised penis in infants and children. 2019. (Cited 2019 Jul 12). Available from:

Mota DM, Barros AJD. Toilet training: situation at 2 years of age in a birth cohort. Jornal de pediatria. 2008; 84:455-62.

Fleiss P. Protect your uncircumcised son. Mothering Magazine. 2000; 103:40-7.

Falcão BP, Stegani MM, Matias JEF. Phimosis and circumcision: concepts, history, and evolution. International Journal of Medical Reviews. 2018; 5:6-18.

Shahid SK. Phimosis in children. ISRN urology. ISRN Urol. 2012; 2012:707329.

Oliveira G, Saraiva J. Lições de Pediatrai Vol. II. Imprensa da Universidade de Coimbra/Coimbra University Press. 2017.

Van Howe RS. Cost-effective treatment of phimosis. Pediatrics. 1998; 102: e43.

Menezes B, Sassetti L, Prazeres V. Programa Nacional de Saúde Infantil e Juvenil. 2013:1-121.

Choe JM. Paraphimosis: current treatment options. American family physician. 2000; 62:2623-32.

Tews M, Singer JI. Paraphimosis: Clinical manifestations, diagnosis, and treatment. 2019. (Cited 2019 Jul 12). Available from:

Dees JE. Congenital epispadias with incontinence. The Journal of urology. 1949; 62:513-22.

Borer JG. Clinical manifestations and initial management of infants with bladder exstrophy. 2019. (Cited 2019 Jul 13). Available from:

Spinoit AF, Claeys T, Bruneel E, Ploumidis A, Van Laecke E, Hoebeke P. Isolated male epispadias: anatomic functional restoration is the primary goal. BioMed research international. 2016: 6983109.

Nerli RB, Pujar VC, Patil RA, Jali SM. Modified Cantwell-Ransley epispadias repair in children our experience. Journal of the Scientific Society. 2015; 42:7.

Baskin LS. Hypospadias: Pathogenesis, diagnosis, and evaluation. (Cited 2019 Jul 17). Available from:

Macedo AJr, Srougi M. Hipospádias. Revista da Associação Médica Brasileira. 1998; 44:141-5.

Baskin LS. Hypospadias: Management and outcome. 2019. (Cited 2019 Jul 13). Available from:

Keays MA, Dave S. Current hypospadias management: Diagnosis, surgical management, and long-term patient-centred outcomes. Canadian Urological Association Journal. 2017; 11:S48.

American Academy of Pediatrics, et al. Timing of elective surgery on the genitalia of male children with particular reference to the risks, benefits and psychological effects of surgery and anesthesia. Pediatrics. 1996; 97:590-4.

Erdil H, Mavi A, Erdil S, Gumusburun E. Urethral duplication. Acta Medica Okayama. 2003; 57:91-3.

Trevino-Rangel R, Bodden-Mendozaa BA, Cantú-Salinasb N, García-Rodríguezc MA. Decision-making in the management of an incomplete urethral duplication in a young male. Medicina universitaria. 2015; 17:94-6.

Lopes RI, Giron AM, Mello MF, Neto CMB, Santos J, Moscardi PRM, Srougi V, Denes FT, Srougi M.. Urethral duplication type influences on the complications rate and number of surgical procedures. International braz j urol. 2017; 43:1144-51.

Brás-Silva C, Alves MC, Ribeiro JC, Santos AR. Fimose e Circuncisão. 2006.

Tekgül S, Riedmiller H, Dogan HS, Hoebeke P, Kocvara R, Nijman R, Radmayr C, Stein R. Guidelines on paediatric urology. European Association of Urology. 2013; 22.

Sonthalia S, Jha AK. Smegma pearl. Indian dermatology online journal. 2017; 8:520.

Faridi MMA, Kumar A. Prepucial Epstein Pearls: Revisited. Dermatology online journal. 2017; 8:520.

López-Cruz G, Pérez-Campos E, Hernandéz-Cruz P. Criptorquidia: Importancia del Diagnóstico Oportuno. Boletín Clínico Hospital Infantil del Estado de Sonora. 2007; 24:32-7.

Cooper CS, Docimo SG. Undescended testes (cryptorchidism) in children: Management. 2019. (Cited 2019 Jul 16). Available from:

Cooper CS, Docimo SG. Undescended testes (cryptorchidism) in children: Clinical features and evaluation. 2019. (Cited 2019 Jul 16). Available from:

Bouty A, Ayers KL, Pask A, Heloury Y, Sinclair AH. The genetic and environmental factors underlying hypospadias. Sexual Development. 2015; 9:239-59.

Virtanen HE, Bjerknes R, Cortes D, Jørgensen N, Meyts ERD, Thorsson AV, Thorup J, Main KM. Cryptorchidism: classification, prevalence and long‐term consequences. Acta Paediatrica. 2007; 96:611-6.

Chavarría O. Criptorquidia. Archivos de Pediatría del Uruguay. 2001; 72:286-7.

Niedzielski JK, Oszukowska E, Slowikowska-Hilczer J. Undescended testis–current trends and guidelines: a review of the literature. Archives of medical science. 2016; 12:667.

Ritzén EM. Undescended testes: a consensus on management. European Journal of Endocrinology. 2008; 159:S87-90.

Da Cruz Neto JS, Macêdo CC, Lins HLCC, Da Cruz LL. Criptorquidia: uma revisão sistemática da literatura de 2002 a 2012. Cadernos de Cultura e Ciência. 2013; 12:44-65.

Hutson JM, Hasthorpe S, Heyns CF. Anatomical and functional aspects of testicular descent and cryptorchidism. Endocrine reviews. 1997; 18:259-80.

Cytryn L, Cytryn E, Rieger RE. Psychological implications of cryptorchism. Journal of the American Academy of Child Psychiatry. 1967; 6:131-65.

Zaccara A, Spagnoli A, Capitanucci ML, Villa M, Lucchetti MC, Ferro F. Impalpable testis and laparoscopy: when the gonad is not visualized. Journal of the Society of Laparoendoscopic Surgeons. 2004; 8:39.

Brenner JS, Ojo A. Causes of painless scrotal swelling in children and adolescents. 2019. (Cited 2019 Jul 14). Available from:

Brenner J S, Ojo A. Evaluation of scrotal pain or swelling in children and adolescents. (Cited 2019 Jul 14). Available from:

Santoro G, Romeo C. Morphological and surgical overview of adolescent testis affected by varicocele. The Scientific World Journal. 2013.

Eyre R. Evaluation of nonacute scrotal conditions in adults. 2017. (Cited 2019 Jul 10). Available from:




How to Cite

Costa DM, Pinto NT, Marinho AS, Pinto JM. Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male). REVNEC [Internet]. 2021Apr.6 [cited 2023Dec.1];30(1):26-32. Available from:



Review Articles

Most read articles by the same author(s)