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CONGENITAL MALFORMATIONS OF THE
FEMALE GENITAL TRACT
1-MULLERIAN AGENESIS
• Mayer –Rokitansky-Kuster-Hauser syndrome
• Etiology ?
• Failure of mullerian duct development  absence of the
upper vagina, cx & uterus (uterine remanants may be found)
• The ovaries & fallopian tubes are present
• Normal 46XX ♀ with normal external genitalia
• Pt present with 1ry amenorrhoea
• 47% have associated urinary tract anomalies
• 12% skeletal anomalies
• Rx 
psychological counseling
surgical - vaginoplasty
- excision of uterine remanant (if it has
functioning endometrium)
-vaginal dilators
2-DISORDERS OF LATERAL FUSION OF THE MULL DUCTS
Incidence - 0.1-2%
4% of infertile patient
6-10% recurrent abortion patients
Most pt can conceive without difficulty
 Incidence of :
◊ recurrent abortions
◊ premature birth
◊ fetal loss
◊ fetal malpresentation
◊ C S
◊ cx incompetence
2-DISORDERS OF LATERAL FUSION OF THE M D
CLINICAL PRESENTATION
-Shortly after menarche if there is obstruction to
uterine blood flow
-Difficulty in intercorse  longitudinal vaginal septum
-Dysmenorrhea or menorrhagia
-Abnormality detected on D&C
-U/S, laparoscopy or laparotomy
-Palpable mass
-Complications of pregnancy
-HSG  during infertility or RFL investigations
NON OBSTRUCTIVE MALFORMATIONS OF THE
MULLERIANE DUCTS
2-DISORDERS OF LATERAL FUSION OF THE MULL DUCTS
A-Uterus didelphus
• Complete duplication of uterus, cx & vagina (due to failure of
fusion of the two Mull ducts)
•  pregnancy wastage
• Diagnosis  HSG or at laparoscopy / laparotomy
• Rx  If affecting pregnancy outcome  surgical correction
(metroplasty)
B-Bicornuate uterus
• Incomplete fusion of the two Mull ducts
•  pregnancy wastage
• Dx  HSG or at laparoscopy / laparotomy
• Rx  If affecting pregnancy outcome  surgical correction
(metroplasty)
2-DISORDERS OF LATERAL FUSION OF THE MULL DUCTS
C-Septate uterus
External contour of the uterus is normal but there is
intrauterine septum of varying length & thickness
Worst pregnancy outcome
Diagnosis  both HSG & laparoscopy
Treatment  Hysteroscopic excision of the septum
D-Unicornuate uterus
Due to development of only one Mull duct
Almost all patients have associated single kidney
Pregnancy outcome  similar to pt with didelphic uteri
Dx  HSG or surgery
Rx  NO corrective surgery
 if pt has associated cx incompetence  cx
cerclage
2-DISORDERS OF LATERAL FUSION OF THE MUL DUCTS
E-Unicurnuate with rudimentary horn
Noncommunicating horn 90%
Present with cyclic pelvic pain , mass,
ectopic pregnancy in the rud horn
or endometriosis
Rx  surgical excision
Communicating horn
Present with ectopic pregnancy in the
rud horn or  pregnancy wastage
3-DISORDERS OF VERTICALE FUSION OF THE MULLERIAN DUCTS
A- VAGINAL SEPTUM
• Faults in the junction between the Mull. Tubercle & the
urogenital sinus  could be very thick or thin
• 85% in upper two third of the vagina
• Pt present 1ry amenorrhea, hemato-colpos, mass or
cyclic abdominal pain
•  incidence of endometriosis
• Rx  surgical exicision
B-Cervical AGENISIS / DYSGENISIS
• V rare
• Difficult, unsuccessful surgical correction
• Rx  hysterectomy
4-UNUSUAL CONFIGRATION OF VERTICAL/LATERAL FUSION DEFECTS
• Combined lateral & verticle defects
• Do not fit in other categories
• EXAMPLE, double uterus with obstructed hemivagina
Double uterus with vaginal obstruction
A-Complete vaginal obstruction B-Incomp vag obst C-Comp obst with
comm double uterus
5-DEFECTS OF THE EXTERNAL GENITALIA
• Ambigous genitalia  congenital adrenal hyperplasia
hermaphrodites
• Defects of the clitoris  uncommon  bifid clitoris
hypertrophied  androgen effect
• IMPERFORATE HYMEN
Hymen is formed at the junction of the urogenital sinus &
sinovaginal bulbs
Pt presents with 1ry amenorrhea with cyclic abdominal pain or
hematocolpus /hematometra
Rx cruciate incision
THANK YOU

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Congenital Malformations of the Female genital Tract

  • 1. CONGENITAL MALFORMATIONS OF THE FEMALE GENITAL TRACT
  • 2. 1-MULLERIAN AGENESIS • Mayer –Rokitansky-Kuster-Hauser syndrome • Etiology ? • Failure of mullerian duct development  absence of the upper vagina, cx & uterus (uterine remanants may be found) • The ovaries & fallopian tubes are present • Normal 46XX ♀ with normal external genitalia • Pt present with 1ry amenorrhoea • 47% have associated urinary tract anomalies • 12% skeletal anomalies • Rx  psychological counseling surgical - vaginoplasty - excision of uterine remanant (if it has functioning endometrium) -vaginal dilators
  • 3. 2-DISORDERS OF LATERAL FUSION OF THE MULL DUCTS Incidence - 0.1-2% 4% of infertile patient 6-10% recurrent abortion patients Most pt can conceive without difficulty  Incidence of : ◊ recurrent abortions ◊ premature birth ◊ fetal loss ◊ fetal malpresentation ◊ C S ◊ cx incompetence
  • 4. 2-DISORDERS OF LATERAL FUSION OF THE M D CLINICAL PRESENTATION -Shortly after menarche if there is obstruction to uterine blood flow -Difficulty in intercorse  longitudinal vaginal septum -Dysmenorrhea or menorrhagia -Abnormality detected on D&C -U/S, laparoscopy or laparotomy -Palpable mass -Complications of pregnancy -HSG  during infertility or RFL investigations
  • 5. NON OBSTRUCTIVE MALFORMATIONS OF THE MULLERIANE DUCTS
  • 6. 2-DISORDERS OF LATERAL FUSION OF THE MULL DUCTS A-Uterus didelphus • Complete duplication of uterus, cx & vagina (due to failure of fusion of the two Mull ducts) •  pregnancy wastage • Diagnosis  HSG or at laparoscopy / laparotomy • Rx  If affecting pregnancy outcome  surgical correction (metroplasty) B-Bicornuate uterus • Incomplete fusion of the two Mull ducts •  pregnancy wastage • Dx  HSG or at laparoscopy / laparotomy • Rx  If affecting pregnancy outcome  surgical correction (metroplasty)
  • 7. 2-DISORDERS OF LATERAL FUSION OF THE MULL DUCTS C-Septate uterus External contour of the uterus is normal but there is intrauterine septum of varying length & thickness Worst pregnancy outcome Diagnosis  both HSG & laparoscopy Treatment  Hysteroscopic excision of the septum D-Unicornuate uterus Due to development of only one Mull duct Almost all patients have associated single kidney Pregnancy outcome  similar to pt with didelphic uteri Dx  HSG or surgery Rx  NO corrective surgery  if pt has associated cx incompetence  cx cerclage
  • 8. 2-DISORDERS OF LATERAL FUSION OF THE MUL DUCTS E-Unicurnuate with rudimentary horn Noncommunicating horn 90% Present with cyclic pelvic pain , mass, ectopic pregnancy in the rud horn or endometriosis Rx  surgical excision Communicating horn Present with ectopic pregnancy in the rud horn or  pregnancy wastage
  • 9. 3-DISORDERS OF VERTICALE FUSION OF THE MULLERIAN DUCTS A- VAGINAL SEPTUM • Faults in the junction between the Mull. Tubercle & the urogenital sinus  could be very thick or thin • 85% in upper two third of the vagina • Pt present 1ry amenorrhea, hemato-colpos, mass or cyclic abdominal pain •  incidence of endometriosis • Rx  surgical exicision B-Cervical AGENISIS / DYSGENISIS • V rare • Difficult, unsuccessful surgical correction • Rx  hysterectomy
  • 10.
  • 11. 4-UNUSUAL CONFIGRATION OF VERTICAL/LATERAL FUSION DEFECTS • Combined lateral & verticle defects • Do not fit in other categories • EXAMPLE, double uterus with obstructed hemivagina
  • 12. Double uterus with vaginal obstruction A-Complete vaginal obstruction B-Incomp vag obst C-Comp obst with comm double uterus
  • 13. 5-DEFECTS OF THE EXTERNAL GENITALIA • Ambigous genitalia  congenital adrenal hyperplasia hermaphrodites • Defects of the clitoris  uncommon  bifid clitoris hypertrophied  androgen effect • IMPERFORATE HYMEN Hymen is formed at the junction of the urogenital sinus & sinovaginal bulbs Pt presents with 1ry amenorrhea with cyclic abdominal pain or hematocolpus /hematometra Rx cruciate incision