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Malformation of Female Reproductive System
Malformation of Female Reproductive System
Malformation of Female Reproductive System
Prepared by:
Kriti Banstola
Malformation of the female external genitalia
Congenital uterine abnormalities result from abnormal formation, fusion
or resorption of the mullerian duct during fetal life. These anomalies
have been associated with an increase rate of miscarriage, preterm
delivery and other adverse fetal outcomes. Neither uterine size, shape
nor position is permanently fixed.
Imperforated hymen:
A hymen is a membrane that surrounds or covers the opening of the
vagina. The hymenal tissue is a circular form of tissue, which has a hole
within the center. When there is no opening in the hymen, a membrane
covers the area called an imperforate hymen.
An imperforate hymen is a congenital disorder where a hymen without
an opening completely obstructs the vagina. It is caused by a failure of
the hymen to perforate during fetal development. It is most often
diagnosed in adolescent girls when menstrual blood accumulates in the
vagina and sometimes also in the uterus.
Causes
A congenital imperforate hymen is a result of the failure of completion
of the cannulization of the epithelial plug that fills the vagina.
Complications
• Rectovaginal fistula
• Vesicovaginal fistula
• Bleeding
• Infection
• Dyspareunia
Vaginal atresia
Vaginal atresia is a condition in which the vagina is abnormally closed
or absent. The main causes can either be complete vaginal hypoplasia,
or a vaginal obstruction, often caused by an imperforated hymen, or less
commonly, a transverse vaginal septum.
Clinical features
• Asymptomatic before puberty
• Primary amenorrhea
• Infertility
• Dyspareunia
• Vaginal dimple on examination
Treatment: Vaginoplasty
Transverse vaginal septum
• A transverse vaginal septum results when there is a failure of fusion
and/or canalization of the urogenital sinus and Mullerian duct. A
transverse vaginal septum is a horizontal collection of the tissue that
forms in the embryo. It essentially creates a blockage of the vagina.
This can occur at different level of vagina. Some women have a small
hole in the septum called fenestration.
• During a menstrual period, blood could take longer to flow, causing
periods to last longer than four to seven days. If there is no hole and
the teenage girls may well present with primary amenorrhea and
dysmenorrhea and in these circumstances, clinical examination is all
that is required to make the diagnosis.
Clinical features
• Asymptomatic before puberty
• Primary amenorrhea
• Infertility
• Periodic lower abdominal pain
• Possibly, palpable lower abdominal mass
• Perineal examination: normal vulva and external genitalia
Diagnosis
• Abdominal palpation may reveal a mass arising from the pelvis if the
hematocolpos is large enough.
• A mass may be palpated above the examining finger on recto-
abdominal examination.
• USG\MRI
Treatment
• First line: dilation over 6-12 months using graduated vaginal dilators
• Second line: vaginoplasty
Anastomosis
Vertical or complete vaginal septum
A vertical or complete vaginal septum is a condition where a wall of
tissue runs vertically up and down the length of the vagina, dividing it
into two cavities. While this condition may cause no symptoms, the
client could experience pain when removing or inserting a tampon, or
pain during intercourse.
Longitudinal septa are typically associated with uterine anomalies, such
as the septate uterus and uterus didelphys. The septum that divides the
vagina may be partial or complete.
Clinical features
• Asymptomatic
• Dyspareunia
• Persistent bleeding despite use of tampons
Diagnosis
• Physical examination
• Imaging of upper reproductive tract to determine if there is a single uterus
or two uterine structure.
Treatment
• Complete resection of the septum
Uterine anomalies/malformation
A uterine malformation is a type of female genital malformation
resulting from abnormal development of the mullerian duct(s) during
embryogenesis. Symptoms ranges from amenorrhea, infertility,
recurrent pregnancy loss and pain, to normal functioning depends on the
nature of the defect.
Uterine anomalies may result from three mechanism:
Failure of one or both of the 2 mullerian ducts to form.
Failure of the 2 ducts to fuse completely
Failure of the 2 fused mullerian duct to dissolve the septum
Types:
Uterine anomalies have been divided into 7 types by the American
Fertility Society (1988).
1. Hypoplasia (Mullerian agenesis)
2. Unicornuate uterus
3. Didelphys uterus
4. Bicornuate uterus
5. Septated uterus
6. Arcuate uterus
7. Diethylstilbesterol
1. Hypoplasia/Mullerian agenesis
Mullerian agenesis is a congenital malformation characterized by a
failure of the mullerian duct to develop, resulting in a missing uterus
and variable degree of vaginal hypoplasia of its upper portion.
Mullerian agenesis is the cause of primary amenorrhea. Because most of
the vagina does not develop from the Mullerian duct, instead of
developing from the urogenital sinus, along with the bladder and
urethra, it is present even when the mullerian duct is completely absent.
Because ovaries do not develop from the mullerian ducts, affected
women might have normal secondary sexual characteristics but are
infertile due to the lack of a functional uterus.
Clinical features
• Asymptomatic before puberty
• Dysmenorrhea
• Primary amenorrhea
• Infertility and dyspareunia
Increased risk of the following obstetric complications:
• Ectopic pregnancy
• Mid-trimester miscarriage
• Malpresentation
• Retained placenta
• Cervical impotence
• Preterm labor
• Obstructed labor
• Postpartum hemorrhage
• Diagnosis
- Internal examination - Screening tests
- Transvaginal or abdominal ultrasound - Hysterosalphingography
- Hysteroscopy - Confirmatory test: MRI
• Treatment
- Mullerian duct anomaly is not an indication for surgical therapy. In a
patient with infertility and congenital uterine anomalies, its is important to
rule out other causes of infertility before surgical therapy is considered.
- Metroplasty ( it is a reconstructive surgery used to repair congenital
anomalies of the uterus, including septate uterus and Bicornuate uterus.
The surgery entails removing the abnormal tissue that separates the cornua
of the uterus, then using several layers of stitches to create a normal shape)
2. Unicornuate uterus
A Unicornuate uterus represents a uterine malformation where the
uterus is formed from only one of the paired mullerian duct while the
other Mullerian duct does not develop or only in a rudimentary fashion.
A Unicornuate uterus has a single cervix and vagina. Associated defects
may affect the renal system, and less common, the skeleton.
Sign and symptom
• May be asymptomatic and normal pregnancy may occur
• Ectopic pregnancy
• Miscarriage
• Preterm delivery
3. Uterine didelphys
Uterine didelphys is a condition where a women has two uterine bodies.
Each uterus has a cervix. Uterus didelphys, with completely separate
uterine cavities, are also frequent. The cervices are externally united and
the uterine fundi are externally separate. In most patient the vagina is
septate, causing a double vagina. The halves of such a uterus are often
of different sizes.
Signs and symptoms
• Dysmenorrhea
• Dyspareunia
• Premature delivery
• Breech presentation
4. Bicornuate uterus
A Bicornuate uterus or bicornate uterus is a type of mullerian anomaly
in the human uterus, where there is a deep indentation at the fundus
(top) of the uterus.
Bicornuate uterus develops when the proximal portion os the
paramesonephric ducts does not fuse, but the distal portion that
develops into the lower uterine segment, cervix, and upper vagina fuses
normally.
Clinical features
• Pelvic pain (cyclic or non-cyclic)
• Abnormal vaginal bleeding
• Uterine rupture during pregnancy
• Dysmenorrhea
• Vaginal pain
• Recurrent pregnancy loss
• The patient may have a concurrent renal abnormalities
Complications:
• Recurrent miscarriage • Uterine rupture due to poor
• Preterm birth development
• Abortion • Disruption to fetal growth
• Weak uterine action • Premature rupture of membrane
• Postpartum hemorrhage • Placenta Previa
• Adhesion of the placenta • Retained placenta
• Malpresentation • Cesarean delivery
• Prolonged or obstructed labor
Treatment
• Bicornuate uterus typically requires no treatment
• Metroplasty : People who have recurrent miscarriage with no other
explanation may benefit from surgery.
5. Septate uterus
• A septate uterus results from a problem in stage 2 or 3 uterine
development. The two mullerian duct fused normally. However, there
was a failure in degeneration of the median septum.
• If the failure was complete, a median septum persists in the entire
uterus, separating the uterine cavity into two single-horned uteri that
share one cervix.
• If the failure was partial, resorption of the lower part of the median
septum occurred in stage 2 but the top of the septum failed to dissolve
in stage 3. Thus, there is a single cervix and uterine cavity at the
bottom, but at the top that cavity divides into two distinct horns.
• Because this uterine anomaly occurs later in uterine development, after
complete duct fusion the external shape of the uterus is a normal-
appearing single unit. This is distinct from the Bicornuate uterus,
which can be seen branching into two distinct horns when viewed
from the outside.
• Preterm delivery and Malpresentation are common with pregnancy.
6. Arcuate uterus
This type of uterus is essentially normal in shape with a small midline
indentation in the uterine fundus, which results from failure to dissolve
the median septum completely. It is given a distinct classification
because it does not seem to have any negative effects on pregnancy in
regard to preterm labor or Malpresentation.
7. DES uterus (Diethylstilbestrol)
The daughter of mother exposed to diethylstilbestrol (DES) during
pregnancy are predisposed to uterine abnormalities and clear cell
carcinoma of the vagina.
Two-thirds have abnormalities, including a small, incompletely formed
uterus (“hypoplastic”) and/or a T-shaped cavity and 50% have cervical
defects, for example, an incompletely formed cervix that predisposes to
cervical insufficiency. The mechanism by which DES disrupts normal
uterine development is unknown.
Cervical Agenesis
Cervical agenesis is a congenital disorder of the female genital system
that manifests itself in the absence of cervix, the connecting structure
between the uterus and vagina. Milder forms of the condition, in which
the cervix is present but deformed and nonfunctional, are known as
cervical atresia or cervical dysgenesis. Patient with cervical agenesis
typically present in early adolescence, around the time of menarche,
with primary amenorrhea and cyclic pelvic pain caused by the
obstruction of menstrual flow from the uterus.
Cervical agenesis arises during fetal development, during which time
the paramesonephric duct (mullerian duct) fails to canalize into the
cervix.
Diagnosis
• Ultrasound can be done to identify a hematoma secondary to cervical
agenesis
• MRI can detect the absence of a cervix (agenesis), it is unable to show
cervical dysgenesis (where the cervix is present but malformed).
Management
• The first line of therapy after diagnosis typically involves the
administration of the combined oral contraceptive pill,
medroxyprogesterone acetate or gonadotropin releasing hormone
agonist to suppress menstruation and thereby relieve pain.
• Surgically, cervical agenesis has historically been treated through
hysterectomy (removal of the uterus) to relieve symptoms caused by
hematocolpos (the accumulation of menstrual fluid in the vagina).
• Other surgical methods of management involve the creation of
anastomotic connection between the uterus and vagina by
vaginoplasty or recanalization of the cervix.
• Cervical agenesis occurs when a woman is born without a cervix. This
means there could be the absence of a uterus and a vagina. If a uterus
is present, the doctor may suggest medications to control retrograde
menstruation (the backward movement of menstrual fluid). Perform a
surgical procedure that fuses the uterus to a vagina.
• Outcomes in these cases are generally poor, since the natural functions
of the cervix such as mucus production and providing a barrier against
ascending infection.
Cervical duplication
Cervical duplication occurs when a women is born with two cervixes.
Symptoms
• Abnormal pain before a period
• Abnormal bleeding
• Infertility issue
• Dysmenorrhea
Diagnosis
• Complete medical history, history of clinical features, obstetrical
history.
• Physical examination
• Other diagnostic procedure includes:
‾ Hysterosalpingogram (HSG)
‾ Ultrasound
‾ Diagnostic laparoscopy
‾ Ct scan
‾ MRI
Treatment
Congenital uterine abnormalities are treated through surgical
procedures. If the doctor determines the need of treatment after
assessing the location, severity, symptoms or concern about a successful
pregnancy, the following surgical techniques may be used:
• Laparoscopy: Operative laparoscopy involves the use of a thin, lighted
tube inserted through a small incision in the patient abdomen. This
procedure is minimally invasive.
• Hysteroscopy: Operative hysteroscopy is a less invasive surgical
procedure used to remove polyps, tumor or abnormalities through
cauterizing.
Fallopian tube anomalies
• Rarely, the absence of one or both tubes may occur and is almost
always associated with the absence of the uterus as well as with other
anomalies. Localized factors may result in an incomplete tube.
• The tubes may be unduly elongated; may have accessory ostia or
diverticula.
• If the tube is long, thin hypoplastic structure and responds to
appropriate endocrine therapy, it is classified as infantile.
• Occasionally, ostia are duplicated or an accessory tube may be present.
• Most anomalies as such do not require any treatment.
Retroversion of the uterus
Definition
Retroversion of the uterus occurs when a woman’s uterus (womb) tilts
backward rather than forward . It is commonly called a “tipped uterus”.
The incidence of uterine retroversion in pregnancy is about 15%. In most
cases, retroversion resolves spontaneously by 14 weeks when the gravid uterus
grows into the abdominal cavity. Rarely the uterus remains retroverted and
becomes fixed in the pelvic cavity as it grows.
Causes
• Retroversion of the uterus is common. One in five women has this condition.
• The problem may also occur due to weakening of the pelvic ligamnets at the
time of menopause. An enlarged uterus can also be caused by pregnancy or a
tumor.
• Scar tissue in the pelvis (pelvic adhesions) can also hold the uterus in a
retroverted position.
• Scarring may come from:
Endometriosis
Pelvic inflammatory disease
Pelvic surgery
Symptoms
• Retroversion of the uterus almost never causes any symptoms.
• Rarely, it may cause pain or discomfort
• Dyspareunia
• Dysmenorrhea
• UTI
Treatment
• Underlying disorders such as endometriosis or adhesions should be
treated as needed.
Retroflexion of the uterus
A retroflexed uterus is oriented in a backward-tilting position when
compared to a normal uterus. In this condition the top of the uterus
points towards the back of the pelvic region rather than tilting towards
the bladder.
Causes
• Complication of endometriosis, fibroids, PID, multiparty, lack of
abdominal tone, genetics, previous abdominal surgeries.
Symptoms
• Painful menstruation
• Dyspareunia
• UTI
Treatment
• Treatment of the underlying cause.
• Surgery is performed to suspend a retroflexed uterus.
• Knee-chest position for ten minutes, three times per day.
• Kegel’s exercise
• Use of pessary
Menstrual irregularities and AUB
Abnormal Uterine Bleeding (AUB)
Menstruation is considered normal when uterine bleeding occurs
every 21 to 35 (average 28) days and is not excessive (blood
loss<80ml). The normal duration of menstrual bleeding is between
two and seven days (average 4days).
Abnormal uterine bleeding is excessive or prolonged or frequent
bleeding episodes.
Total Menstrual Blood loss >80ml
When Bleeding persists for >7days
Cycles <21 days
Treatment
Drugs: Phenothiazine's, cimetidine, methyldopa
Treatment according to the cause
Metorrhagia
• A type of abnormal bleeding that occur at irregular intervals and with
variable amounts. The bleeding occurs between periods or is unrelated
to periods.
• Bleeding has no cycle, it is either irregular in occurance or is
continuous.
• Painless bleeding or other features may be associated with periods
• Intermenstrual bleeding often light or sometimes heavy
Causes
1. Uterine causes
2. Non-uterine causes
Uterine causes
• Fibroids especially sub-mucous type.
• Intrauterine mucus polyp, Dysfunctional uterine bleeding.
• Carcinoma body of the uterus.
• Retained products of the conception following childbirth, abortion.
• Ovulation bleeding.
• Erosion of the cervix.
• Carcinoma of cervix.
• Polyps of cervix.
• Use of IUCD or birth control pills.
Non-uterine causes
• Acute pelvic inflammation due to salphingitis.
• Complication of ovarian tumors
• Estrogen withdrawal bleeding
• Thrombocytopenia.
• Stress
• IUCD in uterus
Diagnosis
• History
• Obtain complete medical and menstrual cycles.
• Bleeding and non-bleeding days, heavy bleeding should be collected.
• Clinical examination
• Special investigations:
-Complete blood count,
-Thyroid function studies
-diagnostic curettage.
• Endometrial biopsy
• Hysteroscopy
• Hysterosalphingography
• USG of uterus, ovaries and pelvis.
Treatment
• Treatment is directed to the underlying pathology. Malignancy is
to be excluded prior to any definitive treatment.
• When a pelvic lesion is detected, this should be treated appropriately
according to cause.
• When no lesion is found, general measures are adopted;
✓Bed rest.
✓Sedatives
✓Drug: ergometrine to minimize the bleeding.
✓Hormones: commonly using hormones are estrogen,
progesterone and testosterone.
Surgery:
• Curettage, especially for retained products of conception,
endometritis and metropathia (abnormal excessive often continuous
uterine bleeding due to persistence of the follicular phase of menstrual
cycle).
• Hysterectomy: not responding to any form of treatment.
• Radiation: hemorrhage may be stopped by using either x-ray radiation
or by radium.
Dysmenorrhea
• Dysmenorrhea is defined as severe cramping pain in the lower
abdomen that occurs just before or during menses.
• Menstrual pain that interferes with daily activities.
• It is a painful menstruation of sufficient magnitude so as to
incapacitate day-to-day activities.
• Menstrual pain is any pain during menstruation whether it is normal or
abnormal.
Types
• Primary dysmenorrhea
• Secondary dysmenorrhea
Other types
• Membranous dysmenorrhea
• Neuralgic dysmenorrhea
• Obstructive or congenital or mechanical dysmenorrhea
• Ovarian dysmenorrhea
Primary dysmenorrhea
• Primary dysmenorrhea is defined as painful menses in women with
normal pelvic anatomy, usually begins during adolescence. It is
characterized by crampy pelvic pain beginning shortly before or at the
onset of menses and lasting one to three days.
• Dysmenorrhea is thought to be caused by the release of prostaglandins
in the menstrual fluid, which causes uterine contractions and pain.
• Vasopressin also may play a role by increasing uterine contractility
and causing ischemic pain as a result of vasoconstriction.
• Elevated vasopressin levels have been reported in women with
primary dysmenorrhea.
Causes
• Uterine contractions or ischemia
• Psychological factors
• Mostly confined to adolescents
• Almost always confined to ovulatory cycles
• Pain is like labor usually cured following pregnancy and vaginal
delivery.
1. Psychosomatic factors
• Pain is due to tension and anxiety during adolescence, presents with or
shortly after menarche.
• May starts within 6 months after menarche.
• Lower pain threshold is often aggravating factors.
• Perception of pain
2. Abnormal anatomical and functional aspects of uterus
Uterine contraction
• Contraction abnormalities
• Elevated basal tone
• Elevated active pressure
• Non-rhythmic or in coordinate uterine contraction
• These abnormalities lead to poor uterine perfusion and oxygenation
thus giving rise to pain.
Uterine blood flow
The strong and abnormal uterine contractions in dysmenorrheic
women reduce uterine blood flow and cause myometrium
ischemia, resulting pain.
Stenosis of the internal os or narrowing of the cervical canal
may lead to difficult for the menstrual blood to escape and cause
strong uterine contraction's and pain.
Unequal development of mullerian duct causes the pain due to
unequal muscular contractions.
3. Prostaglandins
1. Warmth
2. Transcutaneous Electrical nerve Stimulation [TENS]
3. Acupuncture & Acupressure
4. Self-help therapy: exercises, behavioral therapy
Surgical approaches
Pathologic amenorrhea
This type of amenorrhea is due to an organic disease; which could be
anatomical or functional.
Cryptomenorrhea
Risk factors
• Hypothalamic tumors and infiltrative lesion
• Systemic illness
• Polycystic ovary syndrome
• Uterine disorders
• Drugs causing hyper prolactinemia
Diagnosis
In primary amenorrhea
• History of the development of secondary sex characteristics, sexual
activity, evidence of psychological dysfunction or emotional stress,
family history of possible genetic anomalies or diabetes, the presence
of galactorrhea, symptoms of a thyroid disorder, weight loss or gain,
hirsutism or menopausal symptoms should be sought.
• If no sexual characteristics are present, there is usually a delay in
puberty due to malnutrition (stunting), chronic childhood illness,
excessive physical activity combined with reduced energy intake or
the delay is constitutional.
History of :
- Infections, especially encephalitis and meningitis
- Abdominal operations. (removal of ovaries)
- Delayed menarche or androgen insensitivity syndrome.
- Chronic childhood disease
- Severe weight loss or gain suggests metabolic disorder that
influences hypothalamic function.
- Cyclic abdominal pain ( suggest underlying malformations)
- Hirsutism
In secondary amenorrhea
Duration of amenorrhea and history of previous cycles. At what age did
menarche start? Did the woman have a regular menstrual cycle (21-35
days) or was it irregular (<21 days or >35 days)? How long has she not
menstruated?
History of :
-contraception
- Subfertility ( around 20% of women with subfertility have
amenorrhea)
- PID and STIs
- Medical history of TB, diabetes, chronic nephritis
- History of severe blood loss or shock after delivery
- Breast feeding
- Galactorrhea
- Endometritis or myometritis or PID
- Fever after miscarriage, deliveries, cesarean section.
- Chronic disease, weight loss, night sweats, fever > 1month,
diarrhea > 1 month. HIV, tuberculosis, cancer, end stage renal
disease etc. can cause a catabolic state with severe wastage.
Physical examination
Investigations
Site of Disorder Diagnosis Investigations
Hypothalamus Hypothalamic- FSH, LH and estradiol low
hypogonadism
Pituitary Pituitary adenoma Prolactin high
Ovary Gonadal dysgenesis FSH and LH High,
Estradiol low
Mullerian tract Absent uterus PCT- negative
Karyotyping- 46XY
Genital tract Imperfotate hymen FSH LH and estradiol-
normal
PCT negative
Management
The overall goals of management in women with amenorrhea include:
• Correcting the underlying pathology
• Helping the women to achieve fertility
• Preventing the complication if the disease process.
Treatment varies depending upon the cause of amenorrhea
• Surgery
- Remove the androgen producing tumor of the ovary
- Remove gonad in testicular feminization
- Imperforated hymen correction
- Creation of functional vagina in absence or hypoplasia of the
vagina
- Hysteroscopic lysis of the intrauterine adhesions
- Surgical resection of the pituitary tumors
- Surgery to correct abnormalities of genital tract
- Incision of membrane in cryptomenorrhea
• Hormonal replacement therapy:
- Testicular feminization
- Turner’s syndrome
- Polycystic ovarian syndrome
- Anovulation
- Primary ovarian insufficiency
- Hyperprolactinemia