Early detection of imperforate hymen prevents morbidity from delays in diagnosis.

Objective: Although it is detectable at all ages through inspection of the external genitalia, imperforate hymen (IH) is a diagnosis that is missed commonly. We hypothesized that children with late diagnoses (predefined as > or =8 years of age, chosen to reflect the timing of normal menarche) would be more likely to be symptomatic, undergo more diagnostic testing, and lack appropriate documentation in their medical records, compared with children with earlier diagnoses (ie, <8 years of age).

Methods: All patients with IH were identified through searches of 3 hospital databases with International Classification of Diseases, Ninth Revision, codes. The medical records of eligible subjects were reviewed by a single, blinded researcher. Comparisons were made between children diagnosed at younger versus older ages.

Results: A bimodal distribution of age at diagnosis was demonstrated; 43% (n = 10) of girls were diagnosed at <8 years of age, and 57% (n = 13) were diagnosed at > or =8 years of age. Among older girls, 100% were symptomatic (abdominal pain and/or urinary symptoms; duration of symptoms: 1-120 days), whereas 90% of cases in the younger group were detected incidentally. Documentation was lacking for breast development (77%), pubic hair development (69%), and menstrual history (46%) among the older girls. Older children were more likely to present symptomatically (odds ratio: 42.0; 95% confidence interval: 3.1-1965.7) and to undergo ancillary testing (odds ratio: 20.3; 95% confidence interval: 1.6-983.1).

Conclusions: Two distinct populations of girls with IH exist, ie, those diagnosed without symptoms at a young age and those not diagnosed until >8 years of age. By incorporating an examination of the external genitalia into their routine practice, clinicians caring for children can prevent the significant delays in diagnosis, misdiagnosis, and morbidity associated with the latter group.