AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Background

Genital tract outflow is important for the expulsion of normal secretions from the cervix and vagina. Outflow is also critical for menstrual efflux. Outflow obstruction may occur at different levels with resultant variations in clinical presentation.

Pathophysiology

Embryologically, the lower two thirds of the vagina develop from the urogenital sinus. The upper vagina, cervix, uterus, fallopian tubes, and ovaries form from the Müllerian duct system. Failure of vertical fusion or canalization of the 2 systems in utero may result in cervical stenosis or atresia, vaginal atresia, or transverse vaginal septa. In addition, hymenal tissue may be imperforate.

Frequency

United States

Female genital malformations occur in 5% of the general population.¹ The incidence of Müllerian agenesis is about one in 4500 women; 30-36% of such malformations are associated with other anomalies as well, particularly anomalies of the kidneys and skeleton.

International

Imperforate hymen is the most common genital outflow tract anomaly.

Mortality/Morbidity

Patients with undiagnosed imperforate hymen who have reached menarche may have recurrent, cyclic, lower abdominal pain.

Age

Although imperforate hymen is a congenital anomaly and can be detected early in life, imperforate hymen remains undetected until puberty in many patients. At birth, the presence of increased mucous secretions in the vagina secondary to maternal estrogen effects may result in a mucocele appearing as a bulging hymen, which is easily observed.

If not detected at birth, secretions resorb, and the condition may be undetected until puberty, when menstrual blood collects and causes hematocolpos, a bluish-colored bulging hymen.

CLINICAL

Section 3 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

History

• Although observation of an imperforate hymen can occur upon genital inspection with labial separation, most patients present with history of amenorrhea, recurrent lower abdominal cyclical pain, or lower abdominal midline mass.
• Severe long-standing obstruction may cause urinary retention, constipation, and hydronephrosis.

Physical

• Physical examination reveals imperforation of hymenal tissue. Variations of an imperforate hymen include microperforate, septate, stenotic, and cribriform hymen.
• If menstruation occurs and hematocolpos develops, the hymen may bulge and exhibit a bluish discoloration.
• In cases of transverse vaginal septum, physical findings depend on the site of the septum (ie, low, mid, or high). If the site is low, a knee-chest examination may reveal the presence of the bulging septum. The vagina is observed as a blind pouch. Digital examination reveals the septum in the vagina. The most common location is the upper third of the vagina. Septa usually have microperforations; however, these are usually insufficient in preventing hematocolpos.

Causes

The exact etiology of such genital tract anomalies is unclear. Any defect in the normal organogenesis involving the urogenital sinus or the Müllerian duct can result in genital tract anomalies. Recently, interest has focused on abnormalities in the structure; expression or function of the mammalian HOX genes may be a possible etiology for such malformations.²

DIFFERENTIALS

Section 4 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Other Problems to be Considered

Vaginal cysts
Vaginal tumors
Müllerian agenesis (amenorrhea, absent uterus)
Cervical stenosis or atresia

WORKUP

Section 5 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Lab Studies

• History and physical examination usually establish the diagnosis.
• In rare cases of transverse vaginal septum with microperforation, ascending infection may lead to pyohematometra. Fluid culture is helpful in determining appropriate antibiotic therapy.

Imaging Studies

• Pelvic 3D ultrasonography can reveal additional associated congenital malformations of the uterus or cervix. Ultrasonography also reveals hematocolpos or hematometra.³
• MRI can delineate other associated abnormalities such as those of the urinary tract.

Other Tests

• If the patient has a blind vaginal pouch and no pubic or axillary hair, karyotyping or serum testosterone levels are helpful in establishing the diagnosis of androgen insensitivity syndrome.
• If the patient has Müllerian agenesis (absent uterus and tubes, normal female karyotype, Mayer-Rokitansky-Kuster-Hauser syndrome), consider screening for other skeletal and urinary anomalies. Thirty percent of these patients have associated renal anomalies, most commonly unilateral renal agenesis.

TREATMENT

Section 6 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Surgical Care

• Although repair is facilitated when estrogen stimulation is present, repair of an imperforate hymen can be performed in infancy, childhood, or adolescence. A Bovie with three fourths of its tip shielded can be used to excise the hymen close to the hymenal ring. After the fluid is drained, the hymenal area is opened further, and the vaginal mucosa is sutured to the hymenal ring to prevent recurrence.
• Puncture and drainage of a hematocolpos without a definitive surgical procedure is not recommended. The fluid is viscous and may not adequately drain, which increases the risk of an ascending infection.
• Surgery for a transverse vaginal septum depends on location, thickness, and need for vaginoplasty. Repair usually involves excision of the septum with end-to-end anastomosis of the vaginal walls.
• In patients with Müllerian agenesis, vaginal reconstruction is performed. However, repeat operations are often required and complications, such as stenosis and fistula formation, are not uncommon.⁴

Consultations

• After establishing the diagnosis, consultation with a pediatric gynecologist or urologist who is familiar with these conditions is recommended.

MEDICATION

Section 7 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Drug therapy is not currently a component of the standard of care for this condition. See Treatment.

FOLLOW-UP

Section 8 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Further Outpatient Care

• A follow-up examination 4-6 weeks after repair is recommended to ensure that scar tissue has not caused a recurrence of obstruction.

Complications

• Hematocolpos
• Hematometra
• Pyohematocolpos
• Pyohematometra
• Urinary retention, hydronephrosis (rare)
• Postoperative recurrence of obstruction
• Constipation
• Abdominal mass

Prognosis

• Prognosis is excellent, and full recovery is typical.

Patient Education

• For excellent patient education resources, visit eMedicine's Women's Health Center. Also, see eMedicine's patient education articles Amenorrhea and Female Sexual Problems.

MISCELLANEOUS

Section 9 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Medical/Legal Pitfalls

• Be aware of missed diagnosis. Always perform a genital inspection in patients who present with amenorrhea.⁵ Outflow obstructions cause cryptomenorrhea, not true primary amenorrhea.

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

1. Oppelt P, von Have M, Paulsen M, et al. Female genital malformations and their associated abnormalities. Fertil Steril. Feb 2007;87(2):335-42. [Medline].
2. Burel A, Mouchel T, Odent S, et al. Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina). J Negat Results Biomed. 2006;5:4. [Medline].
3. Nayci A, Avlan D, Oz U, et al. Does menstrual flow exclude hematometra? A rare case of uterine anomaly presenting with anorectal malformation. J Pediatr Surg. Apr 2002;37(4):666-7. [Medline].
4. Davies MC, Creighton SM, Woodhouse CR. The pitfalls of vaginal construction. BJU Int. Jun 2005;95(9):1293-8. [Medline].
5. Pletcher JR, Slap GB. Menstrual disorders. Amenorrhea. Pediatr Clin North Am. Jun 1999;46(3):505-18. [Medline].
6. Altchek A, Deligdish L. Congenital absence of the uterus and the vagina. In: The Uterus: Pathology, Diagnosis and Management. 1991:272-93.
7. Edmonds DK. Congenital malformations of the genital tract. Obstet Gynecol Clin North Am. Mar 2000;27(1):49-62. [Medline].
8. Emans SJ, Laufer MR, Goldstein DP. Structural abnormalities of the female reproductive tract. In: Pediatric and Adolescent Gynecology. 1998:303-62.
9. Spence J, Gervaize P, Jain S. Uterovaginal anomalies: diagnosis and current management in teens. Curr Womens Health Rep. Dec 2003;3(6):445-50. [Medline].

Article Last Updated: Mar 6, 2008