Vaginal agenesis, the hymen, and associated anomalies

J Pediatr Adolesc Gynecol. 2012 Feb;25(1):54-8. doi: 10.1016/j.jpag.2011.08.003. Epub 2011 Nov 3.

Abstract

Study objectives: Review anomalies in patients with vaginal agenesis. In particular, to clarify the impact of an absent hymen on the presence of other anomalies; on the success of creating a vagina with dilators; and on sexual function outcomes.

Design: Retrospective medical record review; questionnaire on sexual function.

Setting: Gynecology service at a children's hospital and the practice of 1 gynecologist.

Participants: All patients with vaginal agenesis were identified from the databases, as well as the subgroup in which hymenal status was known.

Outcome measures: Data regarding hymen, renal, skeletal, cardiac, and other anomalies; for women who had a neovagina, the technique used to create a functional vagina.

Results: Of 69 females (age range 2-70 years), renal tract anomalies (43.3%), vertebral anomalies (29%), cardiac anomalies (14.5%), and syndromes including Klippel-Feil (7%) and MURCS association (7%) were identified. Where hymenal status was known (n = 47), 31 were normal, and 16 had an absent hymen. Where the hymen was absent, renal agenesis was increased (odds ratio = 13.5, P < .001). There was no association between other anomalies and an absent hymen, or between the various anomalies. For women without a hymen, the likelihood of failing dilation therapy was increased (odds ratio = 21.7; P < .01].

Conclusion: An absent hymen makes renal agenesis more likely and increases the likelihood that dilator techniques will fail. This condition appears to be associated with reports of long-term problems with poor lubrication that are potentially related to the absence of the peri-hymenal Bartholin's glands.

MeSH terms

  • 46, XX Disorders of Sex Development
  • Abnormalities, Multiple / epidemiology*
  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Congenital Abnormalities / epidemiology
  • Female
  • Heart Defects, Congenital / epidemiology
  • Humans
  • Hymen / abnormalities*
  • Infant
  • Kidney / abnormalities
  • Kidney Diseases / congenital
  • Kidney Diseases / epidemiology
  • Klippel-Feil Syndrome / epidemiology
  • Middle Aged
  • Mullerian Ducts / abnormalities
  • Retrospective Studies
  • Somites / abnormalities
  • Spine / abnormalities
  • Surveys and Questionnaires
  • Uterus / abnormalities
  • Vagina / abnormalities*
  • Victoria / epidemiology

Supplementary concepts

  • Hereditary renal agenesis
  • Mullerian aplasia