Congenital Defects of the Female reproductive Tract

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Congenital Defects of the Female reproductive
Tract

• Anna Mae Smith, MPAS, PA-C

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Development

• The stages of embryonic development are given in
  terms of ovulation age, which is calculated from
  time of ovulation.
• The gestational age commonly used by
  obstetricians and gynecologists in dating
  pregnancies is 2 weeks longer than ovulation age
  the embryo in a woman who is 6 weeks pregnant
  (gestational age) is 4 weeks developed (ovulation
  age).

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Development

• Organogenesis begins in the 3rd embryonic week
  is essentially complete in the 10th week(5-12th
  week in terms of clinical pregnancy)

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Development

• The early embryo is bipotential, with the ability
  to develop male or female internal and external
  genitalia.
• The primary model of development of the genitalia
  is female
• Male differentiation requires the active
  secretion of testicular androgen, testosterone,
  and a nonsteroid, mullerian inhibitory factor
  (MIF)

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Development

• In a normal female fetus, the absence of
  testicular androgens and MIF results in
  degeneration of the wolffian duct and in
  development of mullerian structures.
• Because feminization proceeds without active
  intervention, it is called development, and
  masculinization is called differentiation,
  because it requires active agents to alter the
  fundamental female genital phenotype

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Development

• In the absence of any gonadal function, normal
  female development proceeds.
• Testosterone, which is necessary for development
  of the male internal ducts, and a nonandrogen
  (i.e., MIF), which prevents the development of
  the female ducts
• Both of these substances act locally. There is
  limited or no effect on the contra-lateral
  adnexal area

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Development

• There is a close relation between the development
  of the genital and urinary systems
• In the male embryo, the mesonephric or wolffian
  duct becomes the definitive internal duct system
  (i.e., vas deferens, epididymis, seminal
  vesicles).

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Perineal view of the external genitalia of (A)
male and (B) female fetuses at 12 weeks of
qestation, when accurate sexual determination can
first be made by the external appearance of the
genitalia. By the end of week 11, the
labioscrotal folds have fused in the male but
remain separate in the female. The phallic size
is similar in both sexes at this stage.
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Development

• In the female embryo, the wolffian duct
  degenerates, but some small nonfunctional cystic
  remnants may persist.
• Paramesonephric or mullerian duct - forms the
  internal female genital tract (i.e., upper
  vagina, cervix, uterus, fallopian tubes)
• It develops later than the wolffian duct
  (beginning in week 6)

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Anomalous female internal genitalia

• Development can be subdivided into four areas
• failure of formation of the primordial ducts
• failure of fusion of the primordial ducts
• failure of dissolution of the septum between the
  fused ducts
• failure of structures to disappear

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Septate uterus
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Failure of Formation

• Mullerian agenesis - The most common abnormality
  is complete failure of mullerian duct
  development, which results in complete absence of
  the vagina, cervix, uterus, and fallopian tubes

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Failure of Fusion

• Didelphys anomaly, in which there is complete
  duplication of the female internal genitalia.
  This results in a double (septate) vagina, two
  cervices, and two separate hemiuteri.
• Bicornuate uterus. In this condition, there is a
  single vagina and cervix but a variable lack of
  fusion of the upper uterine cavity.
• Both may result in preterm delivery

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Failure of Dissolution

• ...of the median septum after fusion of the
  separate mullerian ducts.
• The most typical abnormality is the septate
  uterus there is a single vagina and cervix and
  an apparently normal single uterus, but there is
  an intrauterine septum that partially or
  completely separates the cavity into two
  hemi-uteri.

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Septate
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Hysterosalpingogram radiograph of a bicornuate
uterus
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Hysterosalpingogram radiograph of a septate
uterus
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Failure of Dissolution contd

• Differentiating a septate from a bicornuate
  uterus requires laparoscopic visualization of a
  single uterine fundus.
• This condition typically results in recurrent
  early pregnancy losses, although it can produce
  primary infertility.

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Failure of Disappearance

• Abnormalities can result from the failure of
  disappearance of structures that normally do not
  persist. An example is a lateral wall vaginal
  cyst (i.e., Gartner cyst) that results from
  remnants of the wolffian duct. These cysts are
  usually clinically insignificant but should be
  removed if symptomatic.

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Hydrocolpos
Hydrocolpos due to high transverse septum
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Obstructed hemi-vagina in patient with uterus
didelphys
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Failure of Disappearance contd

• Because of the common embryologic origin of the
  urinary and genital tracts, there is a relatively
  high incidence of urinary tract anomalies among
  patients with mullerian developmental anomalies

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External Genitalia

• In the absence of androgenic action, the
  indifferent genital precursors develop along
  female lines.
• Whether genetically male or female, the fetus
  without functional gonads develops entirely
  normal external female genitalia.
• Regardless of the presence or absence of the
  internal ducts, female external development
  proceeds in the absence of androgen.

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Teratogens

• X-rays - what is too much exposure??
• It is unlikely that the risk will increase until
  a total exposure of 10 rads has been exceeded
• Viruses
• CMV,Toxoplasmosis - Usually affect the CNS
  causing microcephaly, mental retardation
  retinal lesions

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Teratogens

• Chemical
• Drugs - exogenous hormones (synthetic progestins
  testosterone) may cause masculinization of the
  female fetus
• Nutrition - folic acid (lack of)