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Congenital Anomalies Of
Female Reproductive System
Mahmoud H. Ashour
• Gonads  Testis or ovary
• Ducts  Mesonephric or paramesonephric
• External Genitalia  Male or female genitalia
Undifferentiated gonads
Y chromosome
SRY gene
TDF
Testis formation
Testosterone + AMH
Mesonephric
“wolffian” duct
No Y
No ...
Congenital anomalies of
ovaries and fallopian tubes
• Duplication
• Absence
• Ectopic ovarian tissue : Accessory or supern...
Fallopian tube
• Aplasia or atresia “ almost always associated with
absence of the uterus as well as with other anomalies”...
Congenital anomalies of the
uterus and cervix
The most common anomalies of the uterus result from
either :
1. Incomplete fusion of the paramesonephric Ducts.
2. Incompl...
EPIDEMIOLOGY
• Are extremely rare
• There is an increased incidence of müllerian anomalies
in women who were exposed in ut...
CLINICAL MANIFESTATIONS
• Discovered incidentally in the workup for common
obstetrical and gynecologic complaints at the o...
Uterus didelphys
Two separate uterine bodies, each with its own cervix and
attached fallopian tube and vagina
A bicornuate uterus with a
rudimentary horn
Represents a fusion failure
bicornuate uterus with or
without double cervices
• Bicornuate and unicornuate uteri are associated with
second-trimester ...
Septate uterus
• Incomplete dissolution of the midline fusion of the
paramesonephrica
• 25% of women with uterine septa ma...
Unicornuate uterus
Failure of formation
• Normal karyotypic and phenotypic females + anomalies
of the urinary system such ...
Clinical significant
• Woman’s risk for infertility
• Early pregnancy Loss
• Dysmenorrhea and dyspareunia
• Anomalies with...
• Spontaneously Always .. But may also be
caused by early maternal exposure to certain
drugs
• The most notable of these d...
DES-exposed female’s infant
• T-shaped endometrial cavity
• cervical collar deformity
Diagnostic Evaluation
• pelvic ultrasound, CT, MRI, sonohistogram,
hysterosalpingogram, hysteroscopy, and laparoscopy
• Ke...
Unicornuate
Septate Uteri
Treatment
• Many uterine anomalies require no treatment.
• When the defect causes significant symptoms such as
pain , mens...
• Many women with a bicornuate uterus are able to carry a
pregnancy to fruition, although preterm labor and
delivery is a ...
External genitalia
CONGENITAL ANOMALIES OF THE
VULVA
• Ambiguous genitalia:
 may appear as a large clitoris or a small penis. Thus a child m...
Ambiguous genitalia
• Physical examination
• Pelvic ultrasonography
• Hormonal studies
• Examination of a buccal smear for...
Female pseudohermaphroditism
• Genetic females (45,XX)
• Ovaries but with secondary sexual characteristics or
external gen...
the diagnosis is not suspected until signs of salt-wasting
develop a week later, due in particular to the lack of
aldoster...
Male pseudohermaphroditism
Androgen insensitivity
• Genetic males (45,XY)
• Deficit in testosterone production or action
•...
Quigley scale
• Grade 1 includes individuals whose external genitalia are fully masculinized,
condition that correspond to...
True hermaphroditism
• Dual gonadal development occurs, either in the form of
an ovotestis or as a separate ovary and test...
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
Congenital anomalies of female reproductive system
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Congenital anomalies of female reproductive system

  1. 1. Congenital Anomalies Of Female Reproductive System Mahmoud H. Ashour
  2. 2. • Gonads  Testis or ovary • Ducts  Mesonephric or paramesonephric • External Genitalia  Male or female genitalia
  3. 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. 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. 5. Fallopian tube • Aplasia or atresia “ almost always associated with absence of the uterus as well as with other anomalies” • Complete duplication
  6. 6. Congenital anomalies of the uterus and cervix
  7. 7. 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
  8. 8. 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.
  9. 9. 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
  10. 10. Uterus didelphys Two separate uterine bodies, each with its own cervix and attached fallopian tube and vagina
  11. 11. A bicornuate uterus with a rudimentary horn Represents a fusion failure
  12. 12. bicornuate uterus with or without double cervices • Bicornuate and unicornuate uteri are associated with second-trimester pregnancy loss, malpresentation, and preterm labor and delivery
  13. 13. 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.
  14. 14. Unicornuate uterus Failure of formation • Normal karyotypic and phenotypic females + anomalies of the urinary system such as a horseshoe or pelvic kidney
  15. 15. Clinical significant • Woman’s risk for infertility • Early pregnancy Loss • Dysmenorrhea and dyspareunia • Anomalies within uterine vascular system, such as an AVM
  16. 16. • 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 )
  17. 17. DES-exposed female’s infant • T-shaped endometrial cavity • cervical collar deformity
  18. 18. 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
  19. 19. Unicornuate Septate Uteri
  20. 20. 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
  21. 21. • 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.
  22. 22. External genitalia
  23. 23. 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.
  24. 24. Ambiguous genitalia • Physical examination • Pelvic ultrasonography • Hormonal studies • Examination of a buccal smear for sex chromatin • Karyotyping • And consultation with specialists
  25. 25. 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
  26. 26. 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.
  27. 27. 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
  28. 28. 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.
  29. 29. 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
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Congenital anomalies of female reproductive system

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