Abnormal genitalia in infants are often described as “ambiguous genitalia” because their malformations can make it difficult to determine what sex a child is.

 

What is the cause of absent vaginal opening in a girl?

Imperforate hymen

• In female infants, there is normally a thin membrane (hymen) that surrounds the vaginal opening.
• In rare conditions, a congenital vaginal blockage occurs due to an imperforate hymen. Therefore the vaginal opening remains covered.

Labial adhesions

• Fusion of labial skin extending from the posterior fourchette towards the urethral opening. A thin membrane can be seen in the midline.
• Occurs in 3% of the pre-pubertal girls with peak incidence in the first year of life.
• The etiology is unknown but lack of estrogen may probably contribute to its occurrence.

 

Anomalies of the vagina

The vagina is a muscular canal connecting the cervix of the uterus to the vulva.

1. Vaginal agenesis

• • Absence of the vagina (vaginal agenesis) occurs when the vaginal plate fails to form vagina during intrauterine life.
  • It is also known as mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of the vagina with variable uterine development)
  • It affects approximately 1 in every 5,000 female infants
  • It usually occurs with absence of uterus/cervix but presence of normal ovaries. The patient without a uterus will not menstruate and cannot become pregnant. With the presence of normal ovaries, patients can have normal breast and pubic hair development.
  • It may be associated with other malformations, such as:
    • Kidney abnormalities in 25-50% of patients (absence of one kidney or the dislocation of one or both kidneys, fusion of two kidneys forming a horseshoe-like shape)
    • Skeletal abnormalities in 10-15% of patients affecting the spine, ribs or limbs
    • Urinary tract abnormalities. The urethra can open into the vaginal wall or the vagina can open into a persistent urogenital sinus
    • Rectal abnormalities (vaginorectal fistula, vulvovaginal anus, rectosigmoid fistula)
    • Other less common anomalies include congenital heart lesions, abnormalities of the hand, deafness, cleft palate, inguinal or femoral hernias. 

• •  

2. Vaginal atresia or absence of the lower vagina

• • The lower portion of the vagina is replaced by fibrous tissue
  • Usually associated with normal development of the ovaries, uterus, cervix and upper vagina
  • Surgical reconstruction is the treatment

3. High transverse vaginal septum

• • Occurs due to incomplete canalization of the vagina during development

 

How does a patient with vaginal abnormality present?

Though absence of vaginal opening may be detected early during neonatal period, it can also go unnoticed until pubertal years. 

Imperforate hymen

• In affected infants, they may have bulging introitus mucocolpos (due to accumulation of vaginal secretions in response to maternal oestradiol). If the diagnosis is not made, the mucus gets reabsorbed and the child remains asymptomatic until menarche. The girl may present during adolescence with cyclical abdominal pain or pelvic pain due to hematocolpos (accumulation of menstrual blood in the vagina).

Labial adhesions

• Most infants are asymptomatic.
• Some may have urine pool behind the vaginal adhesions and cause post-micturition dribble, soreness and vulvar irritation.

Vaginal agenesis

• Vaginal agenesis is typically not diagnosed until puberty (around age 15) because the external genitalia appear normal from birth
• Usually the young girl notices that she has not had her menstrual period and seeks medical attention
• A subgroup of patients may be diagnosed during infancy during which the abnormality detected during an examination or test for other unrelated problems

Importance of accurate diagnosis: 

• Vaginal agenesis can potentially be misdiagnosed as an imperforate hymen, and attempts at hymenotomy may result in secondary scar formation. This can lead to treatment difficulties in the future.
• Labial adhesions must be differentiated from other pediatric vaginal disorders to avoid unnecessary intervention causing anxiety to a child and her

 

How to diagnose this condition?

Physical examination

• Patients with imperforate hymen may be diagnosed during neonatal period. An abdominal swelling (vagina filled by secretions from the cervical glands in response to the mother’s hormones) may be felt during physical examination.
• The diagnosis of labial adhesion can be made on examination alone and usually no investigations are indicated.
• Patients with vaginal agenesis generally have normal appearance of the external genitalia. In place of the vagina, there can be a small pouch or dimple that is I – 4 cm in depth.

Investigation

• Ultrasound may be done to check if the uterus and ovaries are both present. Ultrasound can confirm mucocolpos/hydrocolpos (abnormal swelling of the vagina) or hydrometrocolpos (abnormal swelling of both the vagina and uterus).
• In patients with vaginal agenesis, intravenous pyelography may detect congenital urinary tract abnormality and radiography may be needed if skeletal abnormalities are suspected.

 

How to treat it?

Treatment depends on the cause of the vaginal blockage.

Labial adhesions

Spontaneous resolution is common. Treatment is usually not necessary in the absence of symptoms.

Estrogen cream can be used topically at the midline of the fusion for a short duration of not more than 6 weeks. It will cause the membrane to separate but recurrence after discontinuing treatment is common. Prolong use is not allowed as estrogen can cause breast swelling and tenderness. Surgical separation is rarely needed unless urinary symptoms are persistent and estrogen therapy has failed. Recurrence is common even after surgery.

Imperforate hymen

The urologist will make a simple incision that does not require anesthesia. Once drainage occurs, the anatomy should be examined for other abnormalities.

Vagina with high transverse septum

Surgical correction depends on its thickness and location.

Vaginal agenesis

Generally the treatment for this condition includes psychosocial support and medical/surgical correction of the anatomic abnormality. Strong support and counseling and psychological preparation before treatment is very important to ensure satisfactory outcome. A normal sex life is possible.  Since the condition is usually associated with absence of uterus, the patient will be unable to carry a pregnancy.

Support and counseling for a child with vaginal agenesis:

Professional counseling of the patient and her parents should be provided timely after the condition is 

diagnosed. This will help them to cope with issues of gender/sexual identity and uncertainty. The patient should be informed that she was born with a vagina that did not develop completely and not “born without a vagina”. Emphasis should be placed on the female features and functions that the child has and not on the abnormality. The child and her parents should be reassured that the health care team can help them achieve a good outcome. Patients should be reassured that a “more functional” vagina can be developed with the help of the health care team. Avoid using the term “artificial vagina” in communication.

When vaginal agenesis is diagnosed during adolescence, the girl may react with shock and inability to accept the condition. She may fear rejection. The patient and her parents should be reassured that she can achieve normal development of breasts, pubic hair, vulva and clitoris. The patient should be reassured that a normal sex life is possible.

 

Figure1:  A. Müllerian and wolffian ducts. B. Fusion of müllerian ducts. C. Regression of mesonephric ducts. D. Uterus, cervix, and vagina.

 

Figure 2:  Diagram of various lesions causing hydrometrocolpos. A. Imperforate hymen. B. Transverse septum. C and D. Low and high atresia of vagina.

 

Reference:

1. Lee, K., Hong, J., Jung, H., Jeong, H., Moon, S., Park, W., … Shin, J. (2019). Imperforate Hymen: A Comprehensive Systematic Review. Journal of Clinical Medicine, 8(1), 56. doi:10.3390/jcm8010056
2. Ramareddy, Raghu Sampally; Kumar, Anjala; Alladi, Anand. Imperforate Hymen: Varied Presentation, New Associations, and Management. Journal of Indian Association of Pediatric Surgeons 22(4):p 207-210, Oct–Dec 2017. | DOI: 10.4103/0971-9261.214451 
3. Egbe, T. O., Kobenge, F. M., & Wankie, E. M. (2019). Virginity-sparing management of hematocolpos with imperforate hymen: case report and literature review. SAGE Open Medical Case Reports, 7, 2050313X1984676. doi:10.1177/2050313×19846765
4. Marino, G., Alfieri, N.,Tessitore, I.V. etal.Hematocolpos due to imperforate hymen:a case report and literature systematic review. Int UrogynecolJ 34,357–369(2023).https://doi.org/10.1007/s00192-022-05270-x
5. HAMOUIE, ANGIE MD; DIETRICH, JENNIFER E. MD, MSc. Imperforate Hymen: Clinical Pearls and Implications of Management. Clinical Obstetrics and Gynecology 65(4):p 699-707, December 2022. | DOI: 10.1097/GRF.0000000000000703 

 

Last Reviewed	:	10 May 2024
Writer	:	Dr Janet Hong
Accreditor	:	Dr. Zainab bt. Kusiar
Reviewer	:	Dr. Nurul’Ain binti Mat Kassim