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Penile agenesis

MedGen UID:
278031
Concept ID:
C1387005
Congenital Abnormality
Synonyms: Agenesis of the penis; Micropenis; Penis agenesia; Penis agenesis
 
Monarch Initiative: MONDO:0018846
Orphanet: ORPHA49

Definition

Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPenile agenesis
Follow this link to review classifications for Penile agenesis in Orphanet.

Professional guidelines

PubMed

Bangalore Krishna K, Cinnatti C, Hoebeke P, Spinoit AF, De Castro R, Lee PA
J Pediatr Urol 2024 Feb;20(1):39-44. Epub 2023 Sep 7 doi: 10.1016/j.jpurol.2023.08.031. PMID: 37749008

Recent clinical studies

Etiology

Cezarino BN, Arceo R, Leslie JA, Koyle M, Dénes FT, Prieto JC
J Pediatr Urol 2023 Feb;19(1):53.e1-53.e6. Epub 2022 Oct 7 doi: 10.1016/j.jpurol.2022.10.001. PMID: 36272933
Sen S, Arunachalam P, Sam CJ
J Pediatr Urol 2021 Feb;17(1):83.e1-83.e7. Epub 2020 Oct 29 doi: 10.1016/j.jpurol.2020.10.023. PMID: 33223457
Lumen N, Monstrey S, Selvaggi G, Ceulemans P, De Cuypere G, Van Laecke E, Hoebeke P
Urology 2008 Feb;71(2):272-6; discussion 276-7. doi: 10.1016/j.urology.2007.08.066. PMID: 18308099
Meyer-Bahlburg HF
Arch Sex Behav 2005 Aug;34(4):423-38. doi: 10.1007/s10508-005-4342-9. PMID: 16010465
Ragan DC, Casale AJ, Rink RC, Cain MP, Weaver DD
J Urol 1999 Feb;161(2):622-5. PMID: 9915472

Diagnosis

Adumah CC, Akpaette IC, Oni O, Obasi IA, Ogundele IO, Adesunkanmi A, Oyinloye OA, Talabi AO, Sowande OA, Adejuyigbe O
Afr J Paediatr Surg 2024 Jan 1;21(1):75-77. Epub 2024 Jan 20 doi: 10.4103/ajps.ajps_81_22. PMID: 38259027Free PMC Article
Bangalore Krishna K, Cinnatti C, Hoebeke P, Spinoit AF, De Castro R, Lee PA
J Pediatr Urol 2024 Feb;20(1):39-44. Epub 2023 Sep 7 doi: 10.1016/j.jpurol.2023.08.031. PMID: 37749008
Bencharef O, Fouraiji K, Kamili EOEA, Oulad Saiad M
Fetal Pediatr Pathol 2022 Apr;41(2):338-340. Epub 2020 Aug 13 doi: 10.1080/15513815.2020.1805533. PMID: 32787699
Decker E, Upasani A, Giuliani S, Cherian A
Urology 2020 Apr;138:e8-e9. Epub 2020 Jan 17 doi: 10.1016/j.urology.2020.01.011. PMID: 31958534
Ragan DC, Casale AJ, Rink RC, Cain MP, Weaver DD
J Urol 1999 Feb;161(2):622-5. PMID: 9915472

Therapy

Yagmurlu A, Vargun R, Gollu G, Gokcora IH
Int Urol Nephrol 2004;36(2):213-6. doi: 10.1023/b:urol.0000034669.47545.ef. PMID: 15368696
Rossi F, De Castro R, Ceccarelli PL, Dòmini R
J Urol 1998 Sep;160(3 Pt 2):1173-7. doi: 10.1097/00005392-199809020-00058. PMID: 9719303
Choudhury SR, Maji BP
Int Urol Nephrol 1993;25(1):71-6. doi: 10.1007/BF02552257. PMID: 8514476

Prognosis

Adumah CC, Akpaette IC, Oni O, Obasi IA, Ogundele IO, Adesunkanmi A, Oyinloye OA, Talabi AO, Sowande OA, Adejuyigbe O
Afr J Paediatr Surg 2024 Jan 1;21(1):75-77. Epub 2024 Jan 20 doi: 10.4103/ajps.ajps_81_22. PMID: 38259027Free PMC Article
Cezarino BN, Arceo R, Leslie JA, Koyle M, Dénes FT, Prieto JC
J Pediatr Urol 2023 Feb;19(1):53.e1-53.e6. Epub 2022 Oct 7 doi: 10.1016/j.jpurol.2022.10.001. PMID: 36272933
Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T
Mol Genet Metab 2010 Jul;100(3):269-73. Epub 2010 Apr 3 doi: 10.1016/j.ymgme.2010.03.023. PMID: 20409737
Arai M, Suzuki S, Ishino H, Igarashi K, Araki T
Arch Gynecol Obstet 2001 Nov;265(4):219-20. doi: 10.1007/s004040000162. PMID: 11789751
Ragan DC, Casale AJ, Rink RC, Cain MP, Weaver DD
J Urol 1999 Feb;161(2):622-5. PMID: 9915472

Clinical prediction guides

De Castro R, Rondon A, Barroso U Jr, Ortiz V, Macedo A Jr
J Pediatr Urol 2013 Feb;9(1):108.e1-2. Epub 2012 Nov 7 doi: 10.1016/j.jpurol.2012.09.001. PMID: 23140937
Lima M, Ruggeri G, Randi B, Dòmini M, Gargano T, La Pergola E, Gregori G
J Pediatr Surg 2010 Oct;45(10):2087-91. doi: 10.1016/j.jpedsurg.2010.05.016. PMID: 20920736
Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T
Mol Genet Metab 2010 Jul;100(3):269-73. Epub 2010 Apr 3 doi: 10.1016/j.ymgme.2010.03.023. PMID: 20409737

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