Congenital anomalies of female

1. Prof : Adel Aly Elboghdady
Assistant professor in OB/GYN
Al- Azhar university
2022
Development of female genital
organs and congenital anomalies
Optimizing natural conception

3. ❑ By the 12 day post-fertilization:
❖ Ectoderm completely cover the embryo.
❖ Endoderm differented to form the primitive gut which
attached to posterior wall of the body by mesentery.
❖ The cavity of the body is lined by Mesodermal structure ,
Coelomic epithelium.
❖ The coelomic epithelium form ( intermediate cell mass)
from which most of the urogenital system is developed.

4. ❖The intermediate cell mass is divided into 3 parts:
✓ Cephalic part : pronephros atrophied in human
being.
✓ Middle part: mesonephros genital ridge mesonephric
duct ( Wolfian) paramesonephric duct ( mullerian)
✓ Caudal part : metanephros kidney.

6. Development of external genitalia
❖Development of vulva
From urogenital sinus.
Clitoris Genital tubercle
Labia majora Labio-scrotal swellings
Labia minora Genital folds

8. ❖Female ext. genitalia recognized by 12w and
male at 14w.
❑Cloaca :
✓ The urorectal septum divides the cloaca (5-6
weeks) into
✓2 compartments : rectum & urogenital sinus.
✓2 membranes : anal & urogenital membranes

10. ❖ The urogenital sinus: forms urinary bladder ,
urethra, the vestibule(The outmost part).
❖Hymen: arises at the junction bet. mullerian
tubercle & vaginal plate.
❖The bartholine gland and skene tubules:
develop as outgrowth from urogenital sinus.

11. Development of the internal genitalia
Developments of duct system
( tube, uterus & upper vagina)
❑ From mullerian ducts (paramesonephric duct).
➢In absence of AMH the duct continue to
develop.
❑Canalization of the vaginal plate occur at 20th wk
❑Mullerian ducts fuse in the midline → utero-vaginal
primordium (UVP).

12. ❑ Derivatives of mullerian ducts:
➢Proximal part→ remain unfused→ fallopian
tubes.
➢Distal parts( UVP)→fuse and the septum in
bet. disappears→ uterus &upper 34 vagina.
➢Vaginal plate →sinovaginal bulb→ lower part
of the vagina.

13. Development of the ovaries
❑ From genital ridge:
➢The genital ridge: A thickening of coelomic
epithelium in the posterior abdominal wall
near the midline→ ovaries( 5-6 w).
➢Germ cells "endodermal in origin "( form the
ova ).
➢Germ cell surrounded by granulosa cells →
1ry follicle . 6-7 million at 20th week→1
million at birth ( no. dec. by shedding) →
400,000 at puberty ( no. dec. by atresia).

14. Applied embryology
❑ Failure of development of intermediate cell mass on one
side results in nondevelopment of ovary and kidney in
this side.
❑ Failure of migration of primitive germ cells to the genital
ridge results in failure of development of genital ridge (
dysgenetic gonads)
❑ Failure of some primitive germ cells to migrates results in
formation of germ cell tumor retroperitoneal
.
❑ Deletion and translocation of the short arm of Y
chromosome explaines the XX male and XY females.

15. ❑ Abnormal high androgen in female fetus may lead to
female pseudohermaphroditism syndrome.
❑ Defects in testosterone production , action or conversion
will cause male pseudohermaphroditism.
❑ Failure of ovarian descent will lead to high ovarian
position at the pelvic brim.
❑ Independent fragmentation of the ovary may exist
retroperitoneally in the sigmoid mesocolon and persists
after bilateral oopherectomy.

17. Congenital malformations
❑External genitalia:
❑ Ambiguous genitalia (intersex) :failure to identify sex at
birth e.g CAH.
❑ Clitoris :
✓ Bifid (Duplication)… associated with ectopia vesica or
epispadius.
✓ Hypertrophy (clitromegaly) = clitoral index > 10mm2…
✓ isolated or part of generalized virilization due to excess
exposure to androgenes.

18. ✓ Labial hypertrophy: dysparuenia or disfigurement TTT
by labial reduction.
✓ Labial adhesions:
cong. Or acquired (infection or post-menopausal) associated
with other vulval irritations e.g. licken sclerosus & herps
simplex.
TTT:
simple surgical separation (introitoplasty)±
local estrogen ( twice daily for 2 w) +
gentile outward traction .0.005 betamethasone cream may be
used for 4-6 w.
Vasline may applied daily for 6 m to prevent recurrence

19. H
Vagina
❑Aplasia (completely or depression)
May be present alone or with abscent uterus Mullerian agenesis
(The mayer- rokitansky –kauster- hauser syndrome)
Symptoms: 1ry amenorrhea & apareunia.
Signs: normal 2ry sexual CC + small vag. Pouch ± absent uterus
by PR.
It is indication for chromosomal analysis to exclude testicular
feminization
IVP& X-ray for associated renal(30%)& skeletal anomalies
(vertebral ) in 15 %.

21. TTT
❖ Make a functioning vagina:
If uterus present ( very rarely ) try to communicate it to
uterus to preserve fertility.
If no uterus: depends on length of the vagina.:
Long vagina : Frank's method : Progressive dilatation
for 6w. downward for 2 w then then up in the usual vaginal
axis)
Very short or abscent: McIndoe operation.:

22. McIndoe operation
➢ space dissected bet urethra& bladder and rectum
posteriorly
➢ plastic mould coverd by skin graft from the thigh inserted
in the space + catheter for 7-10 days (to prevent reflex
UR.
➢ mould removed after 2 wks.
➢ cavity irrigated by worm saline& inspected new mould is
used until sexual intercourse started for dilatation
➢ the best dilator is the husband penis.
➢ Painting mould by antiseptic at night.

23. ❖ Complications :
1. As any operation : anaesthesia , shock , infection.
2. Acute urinary retension.
3. injury of urinary bladder or rectum fistula.
Modified McIndoe operation.: as above but using amnion
graft ( may not need mould).

24. ❑ Hypoplasia(short & narrow).treated by repeated
dilatation
❑Transverse vaginal septum.
It is due to failed mullerian duct fusion or failed canalization
of vaginal plate.
It may be obstructive or non-obstructive.
DD: imperforate hymen
C/P
In neonates and infants: obstructive transverse vaginal
septum → fluid and mucus collection in the upper vagina.
Adults :presented with symptoms as imperforate hymen.

25. Investigations: →US & better MRI especially before
surgery to
1. determine septal thickness and depth
2. differentiates between high vaginal septum and cervical
agenesis.
Treatment :
1. Surgical excision with skin graft to cover the defect.
2. Small septum may excised with ened to end anastomosis.
3. Some recommend laparoscopy with Transverse septum
due to high rate of endometriosis.

26. longitudinal vaginal septum
Incomplete reabsorption of the caudal portion of the müllerian
ducts.
partial or extend the complete vaginal length
May be obstructive or non obstructive.
C/P:
- The nonobstructed form:
Vaginal bleeding ,dyspareunia ,obstructed labour in breach.
Obstructive:
unilateral vaginal and pelvic pain from outflow obstruction.
Treatment:
surgical correction with higher rate of vaginal stricture →
reoperation.

27. Vaginal atresia.
Failure of urogenital sinus to produce its part of vagina
C/P:
At adolescent : presented by cyclic pelvic pain due to
hematocolpos & hematometra.
Examination : normal 2ry sexual characters & external
genitalia but with vaginal dimple or small pouch.
Investigations: U/S or better MRI ( the best).
Treatment as mullerian agenesis.

28. Ovaries
❑ Aplasia & hypoplasia :
C/O : amenorrhea, infertility.
Diagnosis: 2ry sexual characters . US, hormones, karyotyping.
Treatment :HRT by cyclic E & P. pregnancy is impossible
❑ Dysgenetic ovaries:Turner syndrome
C/O 1ry amenorrhea, no 2ry sexual characters , infertility
Diagnosis :
Karyotype 45 xo or mosaic : 45 xo/ 46 xx or 45 xo/ 46 xy.
Ovaries streak (fibrous) gonads.
Treatment : HRT. Pregnancy

29. Fallopian tubes
• 1- Aplasia : infertility (± aplasia of
uterus).
• 2- Hypoplasia :short, tortuous,
narrow infertility, ectopic.
• 3- Accessory ostia / diverticulum
infertility, ectopic.

30. Cervix
• Cervical atresia :
C/O: cryptornenorrhea & cyclic lower abdominal pain.
Diagnosis : inability to introduce sound.
Treatment : dilatation, if failed hysterectomy
• Cervical agenesis
C/P: primary amenorrhea and cyclic abdominal or pelvic pain
distended uterus, and endometriosis
investigations: US, and MR imaging
Treatment : conservative management with GnRH antagonists or
agonists.
hysterectomy has been recommended by some (Rock, 1984)
Gestational surrogacy offers another viable option for these
women.

31. Uterus
• Aplasia( MRKH syndrome)
• Incidence: 1/4000.
• It is the 2nd common cause of 1ry amenorrhea ( less than
gonadal failure).
• More common than testicular feminization syndrome = 3rd
common.
• Genotype: 46,XX.
Phenotype : normal female 2ry sexual characters , rarely no 2nd
sex organs.
Investigations : Karyotyping & chromosomal studies
US , MRI & laparoscopy
Treatment: as vaginal agenesis

32. ❑ Hypoplasia:length of uterus is < 2.5 inchs = 6.25 cm
❖Types :
➢ Rudimentary
➢ Infantile (body : cervix = 1 : 2)
➢ Pubescent (body : cervix = 1 : 1
❖C/O :
➢ Amenorrhea or hypomenorrhea & dysmenorrhea.
➢ Infertility or habitual abortion
❖Treatment :
➢ Non-pregnant :cyclic E & P to uterine size …
Pregnant : cerclage.

35. ❑Fusion defects:
❖Uterus didelphys :
➢ 2 bodies, 2 cervices, 2 vagina (vaginal septum). The 2 cervices
are at least 2 cm a part.
❖Uterus bicornis bicollis :
➢ ( pseudo-didylphis) ,2 bodies, 2 cervices.
❖Uterine bicornis unicollis:
➢ ( 2nd common) 2 bodies, 1 cervix.
❖ Septate ( the commonest) & subseptate.
❖Arcuate (uterus cordiformis) a depression at the
fundus.may cause repeated 2nd trimester pregnancy loss.

36. • Unicornate :(complete arrest of development of
one Mullerian duct).
❖Rudimentary horn (under-development & failure of
fusion of one Mullerian duct). It may be communicating
or non-communicating .
• C/P:
• Usually asymptomatic ,discovered accidentally
• Spasmodic dysmenorrheal may be more common.
• Slightly menstrual flow (menorrhagia) in double uterus.
• Signs: Uterus may be markedly tilted to one side

37. • Complications :
• Early pregnancy :
➢ 1. Habitual abortion / PTL (abnormal shape vascularity).
➢ 2. Ectopic pregnancy (in rudimentary horn).
• Late pregnancy:
• malpresentations as transverse lie & breech.
• Labor :
➢ 1. Obstructed labor (malpresentations).
➢ 2. Morbid adherence of the placenta (P. accrete).
➢ 3. Septate uterus doesnot increase rate of preterm labor or
CS.

38. • Investigations: differentiation between types is by :
➢ - 3D U/S.
➢ - MRI
➢ - Laparoscopy
➢ - Difficult by HSG or hysteroscopy

39. ➢Treatment :
❑ according to complaint and type of defect.
➢ Sepatate : combined hysteroscopy & laparoscopy for
resection of septum.( metrroplasty in past).
➢Bicornuate : Strassman's metroplasty.
➢Rudimentary horne : excision.
➢Arcuate uterus: surgical correction.