Vaginal Agenesis, the Hymen, and Associated Anomalies

Journal of Pediatric and Adolescent Gynecology

Volumn 25, Issue 1, 2012, Pages 54-58

  Kimberley, N ^a   Hutson, J M ^a,b   Southwell, B R ^b   Grover, S R ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Associated anomalies; Hymen; Vaginal agenesis

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DATA BASE; DISEASE ASSOCIATION; FEMALE; FEMALE GENITAL TRACT MALFORMATION; GYNECOLOGIST; HEART DISEASE; HUMAN; HYMEN; KIDNEY AGENESIS; KIDNEY MALFORMATION; KLIPPEL FEIL SYNDROME; MAJOR CLINICAL STUDY; MAYER ROKITANSKY RUSTER HAUSER SYNDROME; MEDICAL RECORD REVIEW; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; RETROSPECTIVE STUDY; SCHOOL CHILD; SEXUAL FUNCTION; SKELETON MALFORMATION; VAGINA APLASIA; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; HYMEN; INFANT; KIDNEY; KIDNEY DISEASES; KLIPPEL-FEIL SYNDROME; MIDDLE AGED; MULLERIAN DUCTS; QUESTIONNAIRES; RETROSPECTIVE STUDIES; SPINE; VAGINA; VICTORIA;

EID: 84855334033     PISSN: 10833188     EISSN: 18734332     Source Type: Journal    
DOI: 10.1016/j.jpag.2011.08.003     Document Type: Article

References (32)

1. Aittomaki K., Eroila H., Kajanoja P. A population-based study of the incidence of mullerian aplasia in Finland. Fertil Steril 2001, 76:624-625.
2. Fedele L., Bianchi S., Zanconato G., et al. Laparoscopic creation of a neovagina in patients with Rokitansky syndrome: analysis of 52 cases. Fertil Steril 2000, 74:384-389.
3. Griffin J., Edwards C., Madden J. Congenital absence of vagina. Ann Int Med 1976, 85:224-236.
4. Duncan P.A., Shapiro L.R., Stangel J.J., et al. The MURCS association: Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 1979, 95:399-402.
5. Willemsen W.N. Combination of the Mayer-Rokitansky-Kuster and Klippel-Feil syndrome-a case report and literature review. Eur J Obstet Gynecol Reprod Biol 1982, 13:229-235.
6. Willemsen W.N. Renal, skeletal, ear, and facial anomalies in combination with the Mayer-Rokitansky-Küster (MRK) syndrome. Eur J Obstet Gynecol Reprod Biol 1982, 14:121-130.
7. Strubbe E.H., Cremers C.W., Dikkers F.G., et al. Hearing loss and the Mayer-Rokitansky-Küster-Hauser syndrome. Am J Otol 1994, 15:431-436.
8. Atkinson E., Bennett M.J., Dudley J., et al. Consensus statement: the management of congenital genital tract anomalies in women. Aust N Z J Obstet Gynaecol 2003, 43:107-108.
9. Fleigner J. Long-term satisfaction with Sheares vaginoplasty for congenital absence of the vagina. Aust N Z J Obstet Gynaecol 1996, 36:202-204.
10. Ismail-Pratt I.S., Bikoo M., Liao L.M., et al. Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Küster-Hauser Syndrome. Hum Reprod 2007, 22:2020-2024.
11. Acien P. Embryological observations on the female genital tract. Hum Reprod 1992, 7:437-445.
12. Acien P., Acien M., Sanchez-Ferrer M. Complex malformations of the female genital tract. New types and revision of classification. Hum Reprod 2004, 19:2377-2384.
13. Oppelt P., Renner S.P., Kellermann A., et al. Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod 2006, 21:792-797.
14. Schmid-Tannwald I., Hauser G.A. [Atypical forms of the Mayer-Rokitansky-Küster-syndrom (author's transl)]. Geburtshilfe Frauenheilkd 1977, 37:386-392.
15. Khen-Dunlop N., Lortat-Jacob S., Thibaud E., et al. Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls. J Urol 2007, 177:1107-1111.
16. Creatsas G., Deligeoroglou E., Makrakis E., et al. Creation of a neovagina following Williams vaginoplasty and the Creatsas modification in 111 patients with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 2001, 76:1036-1040.
17. Giannesi A., Marchiole P., Benchaib M., et al. Sexuality after laparoscopic Davydov in patients affected by congenital complete vaginal agenesis associated with uterine agenesis or hypoplasia. Hum Reprod 2005, 20:2954-2957.
18. Cali R.W., Pratt J.H. Congenital absence of the vagina. Long-term results of vaginal reconstruction in 175 cases. Am J Obstet Gynecol 1968, 100:752-763.
19. Creatsas G. Creatsas modification of Williams vaginoplasty: more than 20 years experience. Fertil Steril 2009, 92:e61.
20. Fakih M.H., Williamson H.O., Seymour E.Q., et al. Concurrence of the Holt-Oram syndrome and the Rokitansky-Küster-Hauser syndrome. A case report. JReprod Med 1987, 32:549-550.
21. Ulrich U., Schrickel J., Dorn C., et al. Mayer-von Rokitansky-Küster-Hauser syndrome in association with a hitherto undescribed variant of the Holt-Oram syndrome with an aorto-pulmonary window. Hum Reprod 2004, 19:1201-1203.
22. Böhm J, Heinritz W, Craig A, etal: Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genetics; 92008.
23. Hofstetter G., Concin N., Marth C., et al. Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome ( MURCS association). Wien Klin Wochenschr 2008, 120:435-439.
24. Cheroki C., Krepischi-Santos A.C., Rosenberg C., et al. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A 2006, 140:1339-1342.
25. Drummond J.B., Reis F.M., Boson W.L., et al. Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril 2008, 90:857-859.
26. van Lingen B., Reindollar R., Davis A., et al. Further evidence that the WT1 gene does not have a role in the development of the derivatives of the müllerian duct. Am J Obstet Gynecol 1998, 179:597-603.
27. O'Rahilly R., Müller F. Human Embryology and Teratology 2001, Wiley-Liss, New York. 3rd ed.
28. Nadarajah S., Quek J., Rose G.L., et al. Sexual function in women treated with dilators for vaginal agenesis. J Pediatr Adolesc Gynecol 2005, 18:39-42.
29. Hecker B.R., McGuire L.S. Psychosocial function in women treated for vaginal agenesis. Am J Obstet Gynecol 1977, 129:543-547.
30. Lucco K., Brown C., Spitzer R., et al. Psycholsexual and functional outcomes after creation of a neovagina via laparoscopic Davydov in patients with vaginal agenesis. J Ped Adolesc Gynecol 2008, 21:61.
31. Woodard T.L., Diamond M.P. Physiologic measures of sexual function in women: a review. Fertil Steril 2009, 92:19-34.
32. O'Connell H.E., Eizenberg N., Rahman M., Cleeve J. The anatomy of the distal vagina: towards unity. J Sex Med 2008, 5:1883-1891.