Other namesPenile agenesis[1]

Aphallia is a congenital malformation in which the phallus (penis or clitoris) is absent.[2] It is also known as penile agenesis in the case of males. The word is derived from the Greek a- for "not", and phallos for "penis". It is classified as a disorder of sex development[2]


Aphallia has no known cause. It is not linked to deficient hormone amounts or action, but rather to a failure of the fetal genital tubercle to form between 3 and 6 weeks after conception. The urethra of an affected child opens on the perineum.


Aphallia is usually diagnosed at birth by observation of the genital area, which is usually ambiguous.


Congenital anomalies like cryptorchidism, renal agenesis/dysplasia, musculoskeletal and cardiopulmonary anomalies are also common (>50% cases), hence evaluation of the patient for internal anomalies is mandatory. Although aphallia can occur in any body type, it is considered a substantially more troublesome problem with those who have testes present, and has in the past sometimes been considered justification for assigning and rearing a male infant as a girl, after the outdated 1950s theory that gender as a social construct was purely nurture and so an individual child could be raised early on and into one gender or the other. Many advocacy groups have advocate harshly against coercive genital reassignment however, and encourage infants genitals to be left intact. The nurture theory has been largely abandoned and cases of trying to rear children this way have not proven to be successful transitions.[3] Consensus recommends male gender assignment.[4][5][6]

Recent advances in surgical phalloplasty techniques have provided additional options for those still interested in pursuing surgery.[7][8]


It is a rare condition, with only approximately 60 cases reported as of 1989,[9] and 75 cases as of 2005.[10] However, due to the stigma of the condition and the issues of keeping accurate statistics and records among doctors, it is likely there are more cases than reported.

See also


  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Penile agenesis". www.orpha.net. Retrieved 16 March 2019.((cite web)): CS1 maint: numeric names: authors list (link)
  2. ^ a b "U.K. National Health Service (NHS). 2017-10-18. Retrieved 2024-04-21".((cite web)): CS1 maint: url-status (link)
  3. ^ "What's wrong with the way intersex has traditionally been treated?". Intersex Society of North America.
  4. ^ Meyer-Bahlburg, H.F.L.; Baratz Dalke, K.; Berenbaum, S.A.; Cohen-Kettenis, P.T.; Hines, M.; Schober, J.M. (2016). "Gender Assignment, Reassignment and Outcome in Disorders of Sex Development: Update of the 2005 Consensus Conference". Horm Res Paediatr. 85 (2): 112–118. doi:10.1159/000442386. PMID 26727471. S2CID 32937051.
  5. ^ Venkatesh, S. K; Babu, P. R; Joseph, T. P; Varma, K. K (2017). "Male Gender Assignment of a Child with Aphallia and Associated Complex Urological Anomaly". Journal of Indian Association of Pediatric Surgeons. 22 (1): 38–39. doi:10.4103/0971-9261.194619. PMC 5217138. PMID 28082775.
  6. ^ Gabler, Tarryn; Charlton, Robyn; Loveland, Jerome; Mapunda, Ellen (2018). "Aphallia: a review to standardize management". Pediatric Surgery International. 34 (8): 813–821. doi:10.1007/s00383-018-4271-z. PMC 5217138. PMID 28082775. S2CID 4998662.
  7. ^ De Castro R, Merlini E, Rigamonti W, Macedo A (2007). "Phalloplasty and urethroplasty in children with penile agenesis: preliminary report". J. Urol. 177 (3): 1112–6, discussion 1117. doi:10.1016/j.juro.2006.10.095. PMID 17296424.
  8. ^ Descamps MJ, Hayes PM, Hudson DA (2007). "Phalloplasty in complete aphallia: pedicled anterolateral thigh flap". J Plast Reconstr Aesthet Surg. 62 (3): e51–4. doi:10.1016/j.bjps.2007.04.014. PMID 17574944.
  9. ^ Skoog SJ, Belman AB (1989). "Aphallia: its classification and management". J. Urol. 141 (3): 589–92. doi:10.1016/S0022-5347(17)40903-7. PMID 2918598.
  10. ^ Chibber PJ, Shah HN, Jain P, Yadav P (2005). "Male gender assignment in aphallia: a case report and review of the literature". Int Urol Nephrol. 37 (2): 317–9. doi:10.1007/s11255-004-7974-0. PMID 16142564. S2CID 30865999.