Penile agenesis (afallia) in pueros



Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Introduction. Penile agenesis (aphallia) is an extremely rare congenital defect characterized by the complete absence of the penis in a child with a male karyotype 46XY.

Material. The analysis of the literature on keywords in the Pubmed and Medline databases was carried out.

Results. The incidence of aphallia is estimated 1 out of 10-40 million newborn boys. Aphallia, in spite of its rarity, is a congenital defect which is thoroughly described in the medical literature. The combination of agenesis of the penis with other congenital anomalies often leads to death in such children. Currently, it is believed that these patients should be left with their genetic male sex, therefore, there is a difficult dilemma of choosing the optimal method and age for creating the neophallus and neourethra.

Conclusions. The rarity of the aphallia determines the lack of publications covering the long-term results of phalloplasty in both children and adults.

About the authors

I. M. Kagantsov

Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre;
Pitirim Sorokin Syktyvkar State University

Author for correspondence.
Email: ilkagan@rambler.ru
ORCID iD: 0000-0002-3957-1615

Ilya M. Kagantsov, MD, Dr.Sc. (med), associate professor, chief researcher at the laboratory for surgical correction of congenital and hereditary pathologies at the Institute of Perinatology and Pediatrics in the Almazov National Medical Research Center; professor at department of surgery in the Pitirim Sorokin State University

197341, St. Petersburg,

Syktyvkar, 167001

Россия

V. I. Dubrov

2nd City Children’s Clinical Hospital

Email: fake@neicon.ru
ORCID iD: 0000-0002-3705-1288

Minsk, 167000

Белоруссия

V. V. Sizonov

Rostov-on-Don Regional Children’s Clinical Hospital;
Rostov State Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0001-9145-8671

344015, Rostov-on-Don,

344022, Rostov-on-Don

Россия

V. G. Bairov

Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre

Email: fake@neicon.ru
ORCID iD: 0000-0002-8446-830X

St-Petersburg, 197349

Россия

A. A. Sukhotskaya

Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre

Email: fake@neicon.ru

St-Petersburg, 197349

Россия

References

  1. Jack S. Elder. In: Walsh P.C., Retik A.B., Vaughan E.D. Jr, Wein A.J., ed. Campbell’s. Urology. 8th ed. Saunders: Elsevier Science; 2002: 2343-45.
  2. Evans J.A., Erdile L.B., Greenberg C.R., Chudley A.E. Agenesis of the penis: patterns of associated malformations. Am J Med Genet. 1999; 84(1): 47–55. https://doi.org/10.1102/(SICI)1096-8628(19990507)84:13.0.CO;2-X
  3. Venkatesh S.K., Babu P.R., Joseph T.P., Varma K.K. Male gender assignment of a child with aphallia and associated complex urological anomaly. J Indian Assoc Pediatr Surg. 2017; 22: 38-9. doi: 10.4103/0971-9261.194619
  4. Gabler T., Charlton R., Loveland J., Mapunda E. Aphallia: a review to standardize management. Pediatric Surgery International. Published online: 20 April 2018. https://doi.org/10.1007/s00383-018-4271-z.
  5. Palacios-Juárez J., Hanson-Viana E., Rodríguez-Quintero J.H., Morales-Maza Aphallia: do sociocultural issues affect treatment decisions? J. BMJ Case Rep. 2018; 14; 2018: bcr2018226459. doi: 10.1136/bcr-2018-226459.
  6. Qiang S., Li F.Y., Zhou Y., Yuan Y., Li Q. Congenital absence of the penis (aphallia): A rare case report. Medicine (Baltimore). 2019 Apr; 98(15): 15129. doi: 10.1097/MD.0000000000015129.
  7. Hagelschuer P., Mack-Detlefsen B., Korsch E., Ekamp A., Boemers T.M. Urologe A. 2020 May 29. doi: 10.1007/s00120-020-01244-3. Online ahead of print. PMID: 32472223 German.
  8. Decker E., Upasani A., Giuliani S., Cherian A. A Rare Case of Complete Penile Agenesis. Urology. 2020; 138: 8-9. doi: 10.1016/j.urology.2020.01.011.
  9. Каганцов И.М., Дубров В.И., Де Кастро Р. Фаллопластика по De Castro при агенезии полового члена. Российский вестник детской хирургии, анестезиологии и реаниматологии. 2020; 10(2): 183-91. DOI: https://doi.org/10.17816/psaic659.
  10. Joshi A., Gross J., Thomalla J.V. Congenital Aphallia: Review of Pathogenesis and Current Treatment Guidelines. Urology. 2015; 86(2): 384-7. doi: 10.1016/j.urology.2015.04.031 (in Russian)
  11. Demirer Z., Aip B.F., Uguz S., Guragac A., Irkilata H.C. A rare case of penis agenesis (Aphallia) with associated multipleurogenital anomalies. International Journal of Surgery Case Reports. 2015; (15): 10–2. https://dx.doi.org/10.1016/j.ijscr.2015.08.004
  12. Sharma D., Singh R., Shastri S. A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition. Int Med Case Rep J. 2015; 4(8): 317-20. doi: 10.2147/IMCRJ.S92122.
  13. Bahe P., Sharma D., Bahe A., Pandita A. An Infant With Aphallia and Its Associated Complication: A Rare Case Report and Review of Literature. Trop Doct. 2016; 46(1): 51-3. doi: 10.1177/0049475515576675.
  14. Vanelli M., Bernasconi S., Balestrazzi, et. al. Absence congenitale et isolee du clitoris. Arch Fr Pediatr. 1978; 35: 165.
  15. Friedman A.A., Zelkovic P.F., Reda E.F., Franco I., Palmer L.S. Male and female aphallia associated with severe urinary tract dysplasia. Journal of Pediatric Urology. 2016; 12(268): 1-7. https://dx.doi.org/10.1016/j.jpurol.2016.04.040
  16. Choudhury S.R., Maji B.P. Penile agenesis: an unusual variant. Intern Urol Nephrol. 1993; 25(1): 71–6.
  17. Martinez Tallo ME, Galan Gomez E, Cordero Carrasco JL, Hidalgo Barquero EH, Campo Sampedro PM, Cardesa Carcie JJ. Agenesia de pene y sindrome polimalformative asociado con ingestio´n materna de etretinato. An Esp Pediatr. 1989;31:399–400.
  18. Oesch I.L., Pinter A., Ransley P.G. Penile agenesis: a report of six cases. J Pediatr Surg. 1987; 22: 172–4.
  19. Carter J.P., Isa N.N., Hashem N. Raasch F.O, Jr.: Congenital absence of the penis: a case report. J. Urol. 1968; 99: 766.
  20. Koffler H., Aase J.M., Papile L. Coen R.W. Persistent cloaca with absent penis and anal atresia in one of identical twins. J. Ped. 1978; 93: 821.
  21. Berry S.A., Johnson D.E., Thompson T.R. Agenesis of the penis, scrotal raphe´ and anus in one of monoamniotic twins. Teratology. 1984; 29: 173–6.
  22. Kessler W.O. McLaughlin A.P. III: Agenesis of penis: embryology and management. Urology. 1973;1:226.
  23. Ширяев Н.Д., Каганцов И.М. Очерки реконструктивной хирургии наружных половых органов у детей (часть I): Монография. Сыктывкар. 2012.
  24. Amiri T., et. al. Aphallia: Report of three cases and literature review. Int J Reprod BioMed. 2016: 14(4): 279-84.
  25. Gautier T., Salient J., Pena S., Imperto-McGinley J., Peterson R.E. Testicular function in 2 cases of penile agenesis. J Urol. 1981; 126: 556–7.
  26. Goenka A., Jain V., Sharma R., Gupta A.K., Bajpai M. MR diagnosis of penile agenesis: Is it just absence of a phallus? Pediatr Radiol. 2008; 38: 1109 12.
  27. Wang H., Guo K., Wang J., Liu L., Li F. Aphallia in an adult male with 46,XY karyotype. International Journal of Urology. 2011; 18: 540–2. doi: 10.1111/j.1442-2042.2011.02785.
  28. Shamsa A., Kajbafzadeh A.M., Parizadeh S.M.J., Zare M.A., Abolbashari M. Aphallia associated with urethro-rectal fistula and stones in the bladder and urethra. Saudi J Kidney Dis Transpl. 2008; 19(3): 435-8.
  29. Mouriquand P.D.E., Gorduza D.B., Gay C.L., et. al. Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how? J Pediatr Urol. 2016; 12(3): 139–49. https://doi.org/10.1016/j.jpurol.2016.04.001.
  30. Skoog S.J., Belman A.B. Aphallia: its classification and management. J Urol. 1989; 141(3): 589–92. https://doi.org/10.1016/S0022-3468(89)80153-8
  31. Money J., Hampson J.G., and Hampson J.L. Hermaphroditism: Recommendations Concerning Assignment of Sex, Change of Sex and Psychologic Management, Bull. Johns Hopkins Hosp. 1955; 97: 284-300.
  32. Hendren W.H. The genetic male with absent penis and urethrorectal communication: experience with 5 patients. J Urol. 1997; 157(4): 1469-74.
  33. Peňa A., Devries P.A. Posterior sagittal anorectoplasty: important technical considerations and new applications. J Pediatr Surg. 1982; 17(6): 796-811.
  34. Stolar C.J.H., Wiener E.S., Hensle T.W., et. al. Reconstruction of penile agenesis by a posterior sagittal approach. J Pediatr Surg. 1987; 22: 1076-80.
  35. Bruch S.W., Meuli M., Harrison M.R. Immediate Reconstruction for Penile Agenesis. Journal of Pediatric Surgery. 1996; 31(8): 1152-4.
  36. Macedo A., et. al., The anterior sagittal transrectal approach (ASTRA) for cases associated with rectal implantation of the urethra: A retrospective review of six cases, Journal of Pediatric Urology. 2017. https://dx.doi.org/10.1016/j.jpurol.2017.04.011
  37. Mane S.B., Thakur A., Dhende N.P., Obaidah A., Acharya H. Singlestage feminizing genitoplasty in aphallia through an anterior saggital approach. Journal of Pediatric Surgery. 2009; 44: 2233–5.
  38. Mirshemirani A. et. al. Penile Agenesis: Report on 8 Cases. Iran J Pediatr. 2009; 19(2): 173-9.
  39. Meyer-Bahlburg H.F. Gender identity outcome in female-raised 46, XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav. 2005; 34: 423.
  40. Reiner W.G., Kropp B.P. A 7-year experience of genetic males with severe phallic inadequacy assigned female. J Urol. 2004; 172: 2395.
  41. Reiner W.G., Gender Identity and Sex-of-rearing in Children with Disorders of Sexual Differentiation. Journal of Pediatric Endocrinology & Metabolism. 2005; 18: 549-53.
  42. Ширяев Н.Д., Каганцов И.М., Сизонов В.В., Дубров В.И. Нарушения половой дифференцировки у детей: критический взгляд на нерешенные вопросы (часть I). Урология. 2018; 2: 116–20.
  43. Ширяев Н.Д., Каганцов И.М., Сизонов В.В., Дубров В.И. Нарушения половой дифференцировки у детей: критический взгляд на нерешенные вопросы (часть II). Урология. 2018; 2: 121–5. Doi: https://dx.doi.org/10.18565/urology.2018.2.121-125
  44. Hage J.J., Bloem J.J., Suliman H.M. Review of the literature on techniques for phalloplasty with emphasis on the applicability in femaleto-male transsexuals. J Urol. 1993; 150: 1093-8.
  45. Oliveira D.E.G., da Cruz M.L., Luquori R., Garrone G., Leslie B., Ottoni S.L., Souza G.R., Ortiz V., de Castro R., Macedo A. Jr Neophalloplasty in boys with aphallia: a systematic review. J Pediatr Urol. 2016; 12(1): 19–24. https://doi.org/10.1016/j.jpurol.2015.10.0
  46. Bluebond-Langner R., Redett R. Phalloplasty in Complete Aphallia and Ambiguous Genitalia. Semin Plast Surg. 2011; 25: 196–205. https://dx.doi.org/10.1055/s-0031-1281489.
  47. Kristinsson S., Johnson M., Ralph D. Review of penile reconstructive techniques Your Sexual. Medicine Journal. Published online: 09 March 2020. https://doi.org/10.1038/s41443-020-0246-4
  48. Миланов Н.О., Адамян Р.Т., Карибеков Т.С. Аутотрансплантация реваскуляризованных тканей в пластической хирургии урогенитальной области. М.: «АирАрт», 2007.
  49. Perovic S. Phalloplasty in children and adolescents using the extended pedicle island groin flap. J Urol. 1995; 154(2 Pt 2): 848:53.
  50. Bajpai M. Scrotal phalloplasty: A novel surgical technique for aphallia during infancy and childhood by pre-anal anterior coronal approach. J Indian Assoc Pediatr Surg. 2012; 17: 162-4.
  51. De Castro R., Merlini E., Rigamonti W., Macedo Jr A. Phalloplasty and urethroplasty in children with penile agenesis: preliminary report. J Urol. 2007; 177(3): 1112-6. discussion 1117.
  52. Willihnganz-Lawson K.H., Malaeb B.S., Shukla A.R. De Castro technique used to create neophallus: a case of aphallia. Urology. 2012; 79: 1149–51. doi: 10.1016/j.urology.2011.10.004.
  53. Gouvea J.J. et. al. Penile prosthesis implantation in a patient with congenital aphallia treated using the De Castro technique 10 years previously. Is it feasible? Journal of Pediatric Urology. 2015; 11: 287: 8. doi.org/10.1016/j.jpurol.2015.05.022.
  54. De Castro R., Rondon A., Barroso Jr.U., Ortiz V., Macedo Jr.A. Phalloplasty and urethroplasty in a boy with penile agenesis. J Pediatr Urol. 2013; 9(1): 108:1-2.
  55. Bajpai M. “Bird-Wing” abdominal phalloplasty: A novel surgical technique for penile reconstruction. J Indian Assoc Pediatr Surg. 2013; 18: 49-52.
  56. Chaudhry R., Theisen K. M., Dangle P. P., Schneck F. X. Congenital Aphallia: Novel Use of Acellular Dermal Matrix During Scrotal Flap Phalloplasty. Urology. 2017; 105: 167-70. doi: 10.1016/j.urology.2017.04.008.
  57. Goyal A., Bianchi A. The parascrotal flap phallo-urethroplasty for aphallia reconstruction in childhood: Report of a new technique, Journal of Pediatric Urology. 2014; 1: 7. https://dx.doi.org/10.1016/j.jpurol.2014.01.007.
  58. Macedo A., et. al. Neophalloplasty to congenital aphallia using two transverse skin-flaps: An alternative approach, Journal of Pediatric Urology. 2015; 5: 25. https://dx.doi.org/10.1016/j.jpurol.2015.05.025
  59. Singh V., Nagathan D.S., Sinha R.J., Gupta D.K. Tricholithobezoar: An Unusual Late Complication of Neourethral Reconstruction in Aphallia. Korean J Urol. 2013; 54: 345-7. https://dx.doi.org/10.4111/kju.2013.54.5.345.
  60. Chen K.L., Eberli D., Yoo J.J., et. al. Bioengineered corporal tissue for structural and functional restoration of the penis. Proc Natl Acad Sci USA. 2010; 107: 3346-50.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c)

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies