Agenesis of the penis: Patterns of associated malformations

American Journal of Medical Genetics

Volumn 84, Issue 1, 1999, Pages 47-55

  Evans, Jane A ^a,b   Erdile, Lawrence B ^a   Greenberg, Cheryl R ^a   Chudley, Albert E ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b Department of Human Genetics ^*  (Canada)

Author keywords

Caudal regression; Numerical taxonomy; Penile aphallia

Indexed keywords

AGENESIS; ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; GENE; HUMAN; INCIDENCE; MALE; MESODERM; MORTALITY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PENIS; PRIORITY JOURNAL;

CHILD, PRESCHOOL; DEMOGRAPHY; EMBRYONIC AND FETAL DEVELOPMENT; FATAL OUTCOME; GENITAL DISEASES, MALE; HUMANS; INFANT, NEWBORN; MALE; PENIS;

ANIMALIA; MAMMALIA; METATHERIA; ORYCTOLAGUS CUNICULUS;

EID: 0033532169     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990507)84:1<47::AID-AJMG10>3.0.CO;2-X     Document Type: Article

References (65)

1. Antony J, Chandrasekhara MK. 1973. Penile agenesis. Intern Surg 58: 650-652.
2. Apold J, Dahl E, Aarskog D. 1976. The VATER association: malformations of the male external genitalia. Acta Pediatr Scand 65:150-152.
3. Attie J. 1961. Congenital absence of the penis: a report of a case with congenital concealed penile agenesis and congenital absence of the left kidney and ureter. J Urol 86:343-345.
4. Azpiroz J. 1971. Agenesis of the penis. J Pediatr Surg 6:74.
5. Beasley SW, Hutson JM, Kelly HK, Howat AJ. 1987. Letter to the editor. J Urol 137:317.
6. Bernardinelli W, Mattoso J, Alburquerque D, Corderio JG. 1953. Aplasie du pénis. Presse Med 61:432.
7. Berry SA, Johnson DE, Thompson TR. 1984. Agenesis of the penis, scrotal raphé and anus in one of monoamniotic twins. Teratology 29:173-176.
8. Bruch SW, Meuli M, Harrison MR. 1996. Immediate reconstruction for penile agenesis. J Pediatr Surg 31:1152-1153.
9. Carter JP, Isa NN, Hashem N, Raasch FO. 1968. Congenital absence of the penis: a case report. J Urol 99:766-769.
10. Casey B, Devoto M, Jones KL, Ballabio A. 1993. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 5:403-407.
11. Choudhury SR, Maji BP. 1993. Penile agenesis: an unusual variant. Intern Urol Nephrol 25(1):71-76.
12. Ciftci AO, Şenocak ME, Büyükpamukça N. 1995. Male gender assignment in penile agenesis: a case report and review of the literature. J Pediatr Surg 30:1358-1360.
13. Collier J. 1889. Malformation of external genitals in the male. Br Med J 1:409.
14. Diamond M, Sigmundson HK. 1997. Sex assignment at birth: long term review and clinical implications. Arch Pediatr Adolesc Med 151:298-304.
15. Drury RB, Schwarzell HH. 1935. Congenital absence of the penis. Arch Surg 30:236-242.
16. Dusmet M, Fête F, Crusi A, Cox JN. 1988. VATER association: report of a case with three unreported malformations. J Med Genet 25:57-60.
17. Farah R, Reno G. 1972. Congenital absence of the penis. J Urol 107:154-155.
18. Gautier T, Salient J, Pena S, Imperto-McGinley J, Peterson RE. 1981. Testicular function in 2 cases of penile agenesis. J Urol 126:556-557.
19. Gebbia M, Ferraro GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. 1997. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 17:305-308.
20. Gilbert J, Clark RD, Koyle MA, 1990. Penile agenesis: a fatal variation of an uncommon lesion. J Urol 143:338-339.
21. Gillies H, Harrison RJ. 1948. Congenital absence of the penis. Br J Plast Surg 1:8-28.
22. Gluer S, Fuchs J, Mildenberger H. 1998. Diagnosis and current management of penile agenesis. J Pediatr Surg 33:628-631.
23. Gürses N, Gürses N, Özkan A, Uysal A. 1987. Penile agenesis: a case report. Z Kinderchir 42:386-387.
24. Haller JR, Schumacher LB, Furness TD. 1957. Congenital absence of the penis: case report. J Urol 78:155-157.
25. Hanafy M, Khalil M, El-Khateeb S. 1962. Congenital absence of the penis: report of a case. Alexandria Med J 8:582-586.
26. Harris RP. 1898. Congenital absence of the penis, the urethra making its exit into or below the rectum, and emptying the bladder by, or exterior to the anus. Phil Med J 1:71-77.
27. Hicks RPB, Timmons MC, Aylsworth AS. 1994. Holoprosencephaly with caudal dysplasia: pseudo-trisomy 13 or a distinct entity? Am J Hum Genet 55(suppl):A83.
28. Johnston WG, Yeatman GW, Weigel JW. 1977. Congenital absence of the penis. J Urol 117:508-512.
29. Kessler WO, McLaughlin AP. 1973. Agenesis of the penis: embryology and management. Urology 1:226-229.
30. Koffler H, Aase JM, Papile LA, Coen RW. 1978. Persistent cloaca with absent penis and anal atresia in one of identical twins. J Pediatr 93: 821-823.
31. Kothare SV, Marfatia NS, Vidwans AS, Shah MD. 1988. Congenital penile agenesis. Indian Pediatr 25:572-576.
32. Lal KM. 1943. A case of congenital absence of the penis. Indian Med Gaz 78:152.
33. Lin AE. 1991. Two additional patients representing the possible human homologue for the mouse mutant disorganization (Ds). J Med Genet 645-647.
34. Lisa L, Hanak J, Cerny M, Faflora H, Kafka V, Braza J. 1973. Agenesis of the penis. J Pediatr Surg 8:327-328.
35. Martinez Tallo ME, Galan Gomez E, Cordero Carrasco JL, Hidalgo Barquero EH, Campo Sampedro PM, Cardesa Carcie JJ. 1989. Agenesia de pene y sindrome polimalformative asociado con ingestión materna de etretinato. An Esp Pediatr 31:399-400.
36. McCrea LE. 1942. Congenital absence of the penis. J Urol 47:818-823.
37. Mohta A, Chadha R, Bagga D, Dhar A. 1992. Congenital absence of the penis. J Indian Med Assoc 90(4):106.
38. O'Connor TA, LaCour ML, Friedlander ER, Thomas R. 1993. Penile agenesis associated with urethral and bilateral renal agenesis. Urology 41: 564-565.
39. Oesch IL, Pinter A, Ransley PG. 1987. Penile agenesis: a report of six cases. J Pediatr Surg 22:172-174.
40. Opitz JM. 1993. Blastogenesis and the "primary field" in human development. Birth Defects 29(1):3-37.
41. Ozbey H, Ozbey N. 1997. Immediate reconstruction for penile agenesis. J Pediatr Surg 32:938-939.
42. Podani J. 1993. SYN-TAX-pc Version 5.0 computer programs for multivariate data analysis in ecology and systematics. Budapest: Scientia Publishing.
43. Pohlandt F, Kühn H, Teller W, Thomä H. 1974. Weibliche Geschlechtszuweisung unter psychotherapeutischer Betreuung der Eltern. Dtsch Med Wochenschr 99:2166-2172.
44. Potter EL. 1952. Pathology of the fetus and newborn. Chicago: Year Book Publishers.
45. Parida SK, Hall BD, Barton L, Fujimoto A. 1995. Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. Am J Med Genet 59:68-75.
46. Pavone L, Sciacca F, Gruttadauria G, Mazzone D, Marcello F. 1982. Absence de pénis et d'urètre pénien avec atrésie ano-rectale et atrésie de l'oesophage de type II: à propos d'un cas. Ann Genet 29:588-590.
47. Praharaj KC, Parija AC, Choudhury U. 1976. Penile agenesis. J Indian Med Assoc 66:216-218.
48. Reiner W. 1997. To be male or female-that is the question. Arch Pediatr Adolesc Med 151:224-225.
49. Richart R, Benirschke K. 1960. Penile agenesis. Arch Pathol 70:252-260.
50. Rosenblum RR, Turner WR. 1973. Congenital absence of the penis. J South Carolina Med Assoc 69:178-179.
51. Roth JK, Marshall RH, Angel JR, Daftary M, Lewis RW. 1981. Congenital absence of penis. Urology 17:579-583.
52. Roy KS. 1932. A case of complete absence of the penis. Indian Med Gaz 67:518-519.
53. Rukstinat GJ, Hasterlik RJ. 1939. Congenital absence of the penis. Arch Pathol 27:984-993.
54. Schinzel AAGL, Smith DW, Miller JR. 1979. Monozygotic twinning and structural defects. J Pediatr 95:921-930.
55. Schneider A, Harms D. 1987. Transposition of the external genitalia associated with the VACTERL association. Eur J Pediatr 146:95.
56. Sharma SP, Gangopadhyay AN, Gopal SC, Gupta DK, Yadava R. 1994. Penile agenesis. Indian Pediatr 31:1140-1141.
57. Skoog SJ, Belman AB. 1989. Aphallia: its classification and management. J Urol 141:589-592.
58. Soderdahl DW, Brosman SA, Goodwin WE. 1972. Penile agenesis. J Urol 108:496-499.
59. SPSS, Inc.1993. SPSS 6.0 for Windows.Chicago: SPSS, Inc.
60. Stolar CJH, Wiener ES, Hensle TW, Silen ML, Sukarochana K, Sieber WK, Goldstein HR, Pettit J. 1987. Reconstruction of penile agenesis by a posteror sagittal approach. J Pediatr Surg 22:1076-1080.
61. Talwar S, Kapoor R. 1988. Aphallia. Indian Pediatr 25:579-581.
62. Tavares A, de Azevedo G. 1932. Agenésie du pénis chez un nouveau-né. Fol Anat Univ Conimbrigensis 7:1-8.
63. Vera-Roman JM. 1973. Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae. Am J Dis Child 126:206-208.
64. Weyerts LK, Jones MC, Mendoza A, Jones KL. 1992. VACTERR association and genital abnormalities. Proc Greenwood Genet Ctr 11:83-84.
65. Wilcox DT, Quinn FM, Ng CS, Dicks-Mireaux C, Mouriquand PD. 1997. Refining the genital abnormality in the Robinow syndrome. J Urol 157:2312-2314.