Author
Information
Prasad
R*, Parulekar SV**.
(*
Third Year Resident, ** Professor and Head, Department of Obstetrics and
Gynecology, Seth GS Medical College and KEM
Hospital , Mumbai , India
Abstract
A
girl can present with primary amenorrhea, which may be due to cryptomenorrhea
due to an obstruction of the genital outflow tract. In presence of normal
genital tract, there can be a number of causes. We present a case in which
there was cervical and vaginal aplasia combined with an end organ (endometrial)
defect. This is the first case of this type in the world literature.
Introduction
Primary
amenorrhea can be due to a number of causes. Cryptomenorrhea could be a cause
of a primary absence of menstruation associated with an outflow tract
obstruction of the genital tract. In presence of normal anatomy of the genital
tract, primary amenorrhea can occur due to genital tuberculosis. We present a
case in which there was aplasia of the vagina and the cervix, normal uterine
corpus, normal appearance endometrial shadow on ultrasonography (USG) and no
cryptomenorrhea. Possible etiology of the condition is discussed.
Case
Report
An
18 year old unmarried woman presented with primary amenorrhea. She had a
history of cyclical lower abdominal pain for 3 to 4 years. It was experienced
every month, lasting for 2 to 3 days every time. There was no history of any
bleeding per vaginum or leucorrhea. There were no bladder or bowel complaints.
The breast development had occurred at the age of 13 years, and axillary and
pubic hair development had occurred at the age of 12 years. There was no
history suggestive of any medical disorder including tuberculosis, or any
endocrine disorder. Her mother had menarche at the age of 12 years. Her vital
parameters were normal and general and systemic examination revealed no
abnormality. Breasts development of Tanner's stage 5. There was no
galactorrhea. Axillary and pubic hair development was stage 5. Thyroid was
normal. There was no hirsutism. There was no abnormality on abdominal
examination. Local examination showed an absence of vagina. There was a shallow
dimple at the position of the expected vaginal opening. External genitals were
normal. Rectal examination showed a normal sized uterus. There was no pelvic
tenderness or mass. Abdominopelvic ultrasonography showed uterus measuring
6x3.9x2.8 cm, central endometrial echo measuring 8.1 mm, 2x1.7 cm sized cyst in
the right ovary, 2.3x1.9 cm cyst in the left ovary, normal kidneys, and no
fluid in the pelvis or uterine cavity. There was no vagina. Her hemogram,
thyroid, liver and renal function tests, serum prolactin level,and chest radiograph were normal.
Figure
1. USG of the pelvis showing normal uterus with endometrial echo, and absence
of cervix and vagina.
A
laparoscopy was performed under general anesthesia. The uterus was of normal
size and shape. The fallopian tubes and ovaries were normal. Uterine ligaments
were normal. Cervix was not seen producing an elevation on the anterior wall of
the pouch of Douglas , between the uterosacral
ligaments. Mild inflammatory fibrosis and a thin band of adhesion was seen
around the left ovary. No endometriosis was seen anywhere. Bowel, bladder,
omentum and liver were normal. There was no evidence of tuberculosis. The
patient made an uneventful recovery. TB Gold test was performed on her
postoperatively. Its result was negative. The woman was counseled and offered
vaginoplasty and creation of an opening in the lower end of the uterus into the
neovagina. She opted to undergo that when she planned to get married.
Discussion
In a
woman with an outflow tract obstruction in the form of imperforate hymen,
vaginal agenesis or atresia, cervical atresia or agenesis, the patient suffers
from cryptomenorrhea.[1,2] The menstrual blood collects behind the site of the obstruction
and distends the genital tract, producing hematocolpos (if the obstruction is
in the vagina or at the introitus),
hematocervix (if the obstruction is below the level of the internal os),
and hematometra. Usually the patient presents early, with cyclical lower
abdominal pain, and often retention of urine due to elevation of the bladder
neck and elongation of the urethra. The endometrium is functional, and recovery
is complete when the obstruction is relieved surgically. There can be residual
complication in the form of pelvic endometriosis. Primary amenorrhea can be a
presenting feature of genital tuberculosis, though secondary amenorrhea is far
more common.[3,4,5] The amenorrhea is due to an end organ failure, the endometrium
being destroyed by tuberculous inflammation and often being replaced by fibrous
tissue.[6]
In
the case presented, the woman had cervical and vaginal agenesis, while the
uterine corpus was normally developed and had normal endometrial shadow on
ultrasonography. Thus she should have been menstruating and had
cryptomenorrhea. But there was no fluid in the uterine cavity. This would be
possible only if there was end organ defect in the form of endometrial
destruction due to tuberculosis. If she had contacted the disease in early
childhood, then the genital infection could have manifested before menarche,
and then she would have primary amenorrhea, but no cryptomenorrhea. But all
investigations failed to reveal the presence of tuberculosis. It is possible that
she still had tuberculosis in the endometrium, which could not be sampled for
histopathological examination and TB-PCR test. The other possibility was Leon
Israel syndrome. It is a rare disorder, with only seven cases in the world
literature. The condition is characterized by normal uterus, normal ovulation,
primary amenorrhea, and successful pregnancies without any treatment. The
defect is believed to be an absence of a proteolytic enzyme in the endometrium,
which prevents the normal breakdown of the endometrium at the time of the
menstruation, which gets resorbed and then grows again in the next cycle.[7,8] Owing
to rarity of the condition, the patient presented is more likely to have
genital tuberculosis rather than Leon Israel syndrome. The chronic inflammatory
lesions on the left side adnexa would support the diagnosis. The final
diagnosis may be possible when the woman plans to get married and undergoes a
vaginoplasty, with creation of an opening in the lower end of the uterus
communicating with the neovagina. The endometrium can be curetted at that time
and studied histologically as well as by TB-PCR test.
References
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- Rock JA, Breech LL. Surgery for Anomalies of the Mullerian Ducts. In Te Linde's Operative Gynecology, 10th Edition. 10th Edition. Rock JA, Jones HW III. Eds 2008 Lippincott Williams & Wilkins. pp. 539-584.
- Samal S1, Gupta U, Agarwal P. Menstrual disorders in genital tuberculosis. J Indian Med Assoc. 2000;98(3):126-7, 129.)
- Schaefer G. Female genital tuberculosis. Clin Obstet Gynecol 1976;19:223-39.
- Reiss, HE. Primary amenorrhoea as a manifestation of pelvic tuberculosis. BJOG: An International Journal of Obstetrics & Gynaecology, 1958;65: 734–738. doi: 10.1111/j.1471-0528.1958.tb08863.x
- Parulekar SV, Bhattachryya M. Pregnancy in Leon Israel syndrome (Journal of Obstetrics and Gynecology of India 1986;36:6-7.
- Israel SL. Menstrual
disorders and sterility. Fifth ed
Citation