Congenital anomalies of female reproductive system

1. Congenital Anomalies Of
Female Reproductive System
Mahmoud H. Ashour

2. • Gonads  Testis or ovary
• Ducts  Mesonephric or paramesonephric
• External Genitalia  Male or female genitalia

3. Undifferentiated gonads
Y chromosome
SRY gene
TDF
Testis formation
Testosterone + AMH
Mesonephric
“wolffian” duct
No Y
No SRY
No TDF
Ovary formation
Estrogen
Paramesonephric
“mullerian” duct

4. Congenital anomalies of
ovaries and fallopian tubes
• Duplication
• Absence
• Ectopic ovarian tissue : Accessory or supernumerary
ovaries are extremely rare, and may also be associated
with other congenital genitourinary abnormalities
• Sexual bipotentiality “Ovotestis “true hermaphrodite”
In which combined ovarian and testicular tissues seen “
• Genetic chromosomal disorders :
• 1. Turner syndrome (45 XO) “streaked ovaries that are
a hallmark of the disorder ”

5. Fallopian tube
• Aplasia or atresia “ almost always associated with
absence of the uterus as well as with other anomalies”
• Complete duplication

6. Congenital anomalies of the
uterus and cervix

10. The most common anomalies of the uterus result from
either :
1. Incomplete fusion of the paramesonephric Ducts.
2. Incomplete dissolution of the midline fusion of those
ducts
3. formation failures

11. EPIDEMIOLOGY
• Are extremely rare
• There is an increased incidence of müllerian anomalies
in women who were exposed in utero to diethylstilbestrol
(DES) from 1940 to 1971 (Fig. 14-3).
• DES was a synthetic nonsteroidal estrogen that was
indicated for gonorrheal vaginitis, atrophic vaginitis,
menopausal symptoms, postpartum lactation,
miscarriage prevention, and for advanced prostate and
breast cancer.

12. CLINICAL MANIFESTATIONS
• Discovered incidentally in the workup for common
obstetrical and gynecologic complaints at the onset of
menache, onset of coitus, or attempts at childbearing.
• Menstrual abnormalities
• Dysmenorrhea
• Dyspareunia, cyclic and noncyclic pelvic pain, infertility,
and recurrent miscarriage

13. Uterus didelphys
Two separate uterine bodies, each with its own cervix and
attached fallopian tube and vagina

14. A bicornuate uterus with a
rudimentary horn
Represents a fusion failure

15. bicornuate uterus with or
without double cervices
• Bicornuate and unicornuate uteri are associated with
second-trimester pregnancy loss, malpresentation, and
preterm labor and delivery

16. Septate uterus
• Incomplete dissolution of the midline fusion of the
paramesonephrica
• 25% of women with uterine septa may suffer from
recurrent first-trimester pregnancy loss.

17. Unicornuate uterus
Failure of formation
• Normal karyotypic and phenotypic females + anomalies
of the urinary system such as a horseshoe or pelvic
kidney

18. Clinical significant
• Woman’s risk for infertility
• Early pregnancy Loss
• Dysmenorrhea and dyspareunia
• Anomalies within uterine vascular system,
such as an AVM

19. • Spontaneously Always .. But may also be
caused by early maternal exposure to certain
drugs
• The most notable of these drugs is
diethylstilbestrol (DES) (is a synthetic
nonsteroidal estrogen that was first synthesized
in 1938 )

20. DES-exposed female’s infant
• T-shaped endometrial cavity
• cervical collar deformity

21. Diagnostic Evaluation
• pelvic ultrasound, CT, MRI, sonohistogram,
hysterosalpingogram, hysteroscopy, and laparoscopy
• Keep in mind that uterine septa and bicornuate uteri may
appear identical on hysteroscopic evaluation
• Because there is an increased incidence of renal
anomalies (unilateral renal agenesis, pelvic or horseshoe
kidneys, or irregularities in the collecting system),
additional radiologic evaluation should be pursued in the
setting of a congenital Müllerian anomaly

22. Unicornuate
Septate Uteri

25. Treatment
• Many uterine anomalies require no treatment.
• When the defect causes significant symptoms such as
pain , menstrual irregularities, or infertility, treatment
options should be explored.
• Uterine septa can be excised with operative
hysteroscopy once bicornuate uterus has been ruled out

26. • Many women with a bicornuate uterus are able to carry a
pregnancy to fruition, although preterm labor and
delivery is a significant risk
• When a viable pregnancy cannot be achieved in a
patient with a bicornuate uterus, viable pregnancies have
been achieved with surgical unification procedures.

29. External genitalia

30. CONGENITAL ANOMALIES OF THE
VULVA
• Ambiguous genitalia:
 may appear as a large clitoris or a small penis. Thus a child may be
born with a typically female appearance, but with a large clitoris (
clitoral hypertrophy ) or typically male with a small penis that is open
on its ventral surface ( hypospadius).
• Clitoral agenesis : failure of the genital tubercle to develop
• IMPERFORATE HYMEN
• Vaginal agenesis, also known as Mayer-Rokitansky-Kuster-Hauser
syndrome (MRKH).
• Vaginal atresia (also known as agenesis of the lower vagina) is
often confused with imperforate hymen or transverse vaginal
septum.

33. Ambiguous genitalia
• Physical examination
• Pelvic ultrasonography
• Hormonal studies
• Examination of a buccal smear for sex
chromatin
• Karyotyping
• And consultation with specialists

34. Female pseudohermaphroditism
• Genetic females (45,XX)
• Ovaries but with secondary sexual characteristics or
external genitalia resembling those of a male
• Caused by masculinization occurring in utero
(Androgens)
• Presenting with ambiguous genitalia.
• Ex. Congenital adrenal hyperplasia
 Defect in production of cortisol.
 Excessive adrenal androgens must be produced to
overcome the decrease in cortisol production.
 Enlargement of the clitoris is the most conspicuous

38. the diagnosis is not suspected until signs of salt-wasting
develop a week later, due in particular to the lack of
aldosterone.
When the external genitalia are ambiguous is necessary to
investigate for the presence of a uterus and ovaries. The
diagnosis can be confirmed when levels of serum
testosterone result to be extensively increased while anti
mullerian hormone is not present.

39. Male pseudohermaphroditism
Androgen insensitivity
• Genetic males (45,XY)
• Deficit in testosterone production or action
• These individuals have testes, but their genital ducts and
external genitalia are female
• Occur with varying degrees of virilization and müllerian
development
• Ex. 5-alpha-reductase deficiency

40. Quigley scale
• Grade 1 includes individuals whose external genitalia are fully masculinized,
condition that correspond to mild androgen insensitivity syndrome.
• Grade 6 and 7 includes individuals whose external genitalia are fully feminized.

45. True hermaphroditism
• Dual gonadal development occurs, either in the form of
an ovotestis or as a separate ovary and testis
• Most true hermaphrodites have some degree of both
female and male development internally and externally
• The extent to which masculinization occurs depends on
the relative amount of testicular tissue and its relative
contribution of testosterone