- Author: Latha Chandran, MBBS, MD, MPH; Chief Editor: Andrea L Zuckerman, MD more...
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. With appropriate treatment, the prognosis is excellent, and full recovery is typical.
Embryologically, the lower two thirds of the vagina develops 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 two systems in utero may result in bicornuate uterus, uterus didelphus, cervical stenosis or atresia, vaginal atresia, or longitudinal or transverse vaginal septa. In addition, hymenal tissue may be imperforate.
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. Interest has been focused on abnormalities in the structure; expression or function of the mammalian HOX genes may be a possible etiology for such malformations.
Among patients who have posttransplant graft versus host reactions, scarring of the vagina and vaginal agglutination can result in acquired outflow obstructions similar to those seen in patients with lichen planus lesions of the vagina.
Female genital malformations occur in 5-7% of the general population.[2, 3] 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. Imperforate hymen is the most common genital outflow tract anomaly.
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. Patients with undiagnosed imperforate hymen who have reached menarche may have recurrent, cyclic, lower abdominal pain.
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].
Oppelt P, von Have M, Paulsen M, et al. Female genital malformations and their associated abnormalities. Fertil Steril. 2007 Feb. 87(2):335-42. [Medline].
Dietrich JE, Millar DM, Quint EH. Obstructive reproductive tract anomalies. J Pediatr Adolesc Gynecol. 2014 Dec. 27 (6):396-402. [Medline].
Nielsen V, Vyrdal C. [Imperforate hymen can cause abdominal pain and primary amenorrhoea]. Ugeskr Laeger. 2013 May 20. 175(21):1500-1. [Medline].
Deligeoroglou E, Iavazzo C, Sofoudis C, Kalampokas T, Creatsas G. Management of hematocolpos in adolescents with transverse vaginal septum. Arch Gynecol Obstet. 2012 Apr. 285(4):1083-7. [Medline].
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. 2002 Apr. 37(4):666-7. [Medline].
Segal TR, Fried WB, Krim EY, Parikh D, Rosenfeld DL. Treatment of microperforate hymen with serial dilation: a novel approach. J Pediatr Adolesc Gynecol. 2015 Apr. 28 (2):e21-2. [Medline].
Kansagra AP, Miller CB, Roberts AC. A novel image-guided balloon vaginoplasty method to treat obstructive vaginal anomalies. J Vasc Interv Radiol. 2011 May. 22(5):691-4. [Medline].
Cetinkaya SE, Kahraman K, Sonmezer M, Atabekoglu C. Hysteroscopic management of vaginal septum in a virginal patient with uterus didelphys and obstructed hemivagina. Fertility and Sterility. 2011/07. 96:e16-e18.
Cooper AR, Merritt DF. Novel use of a tracheobronchial stent in a patient with uterine didelphys and obstructed hemivagina. Fertil Steril. 2010 Feb. 93(3):900-3. [Medline].
Davies MC, Creighton SM, Woodhouse CR. The pitfalls of vaginal construction. BJU Int. 2005 Jun. 95(9):1293-8. [Medline].
Haddad B, Barranger E, Paniel BJ. Blind hemivagina: long-term follow-up and reproductive performance in 42 cases. Hum Reprod. 1999 Aug. 14(8):1962-4. [Medline].
Pletcher JR, Slap GB. Menstrual disorders. Amenorrhea. Pediatr Clin North Am. 1999 Jun. 46(3):505-18. [Medline].
Altchek A, Deligdish L. Congenital absence of the uterus and the vagina. The Uterus: Pathology, Diagnosis and Management. 1991. 272-93.
Edmonds DK. Congenital malformations of the genital tract. Obstet Gynecol Clin North Am. 2000 Mar. 27(1):49-62. [Medline].
Emans SJ, Laufer MR, Goldstein DP. Structural abnormalities of the female reproductive tract. Pediatric and Adolescent Gynecology. 1998. 303-62.
Spence J, Gervaize P, Jain S. Uterovaginal anomalies: diagnosis and current management in teens. Curr Womens Health Rep. 2003 Dec. 3(6):445-50. [Medline].