1. Congenital Abnormalities of the Female Reproductive Tract
by Ekaterina Tchmoutina R1
3/11/2015

2. Female Reproductive Tract Embryology
XX – barr body (X inactivation), lack of SRY gene (development of ovary)
Wollfian – mesonephric – remnants in female
Mullerian - paramesonephric
ovary – genital ridge + primordial germ cells
Tubes, Uterus, Cervix, upper 1/3 vagina – paramesonephric ducts fuse
Lower 2/3 Vagina – sinovaginal bulb (from urogenital sinus) meets paramesonephric duct

3. Hermaphrodites
true hermaphrodite – ovotestes, ambiguous external genitalia; 70% XX;
pseudohermaphrodite – genetic sex opposite of phenotypic
CAH – masculinized females
Androgen Insensitivity – feminized males

4. Genetic Syndromes
Swyer Syndrome = XY gonadal dysgenesis – point mutation of SRY gene – no oocytes/testes – phenotypic female w/o ovulation & menses and secondary sex characteristics
Turner Syndrome – 45 X0 – increased oocyte loss  streak ovary, short stature, webbed neck, renal & cardiac (coarctation of Ao) anomalies

5. Female Reproductive Tract Embryology - 2
Mesonephric Remnants – epoophoron, paraophoron, Gartner’s cyst

6. External Genitalia Development
genital tubercle – clitoris
urogenital sinus – vestibule + lower 2/3 vagina
urethral fold – labia minora
genital swelling – labia majora

7. Clitoral Anomalies normal clitoris – 1-1.5 cm long, 0.5 cm wide
enlarged +/- partial development of penile urethra +/- labial fusion = androgen stimulation in utero (female) or androgen insensitivity (male)
bifid +/- anterior rotation & shortening of vagina + vaginal fusion – extrophy of bladder

8. CAH Pathway

9. CAH Pathway

10. CAH Treatment

11. Labial Fusion exposure to exogenous androgens
CAH – 22-hydroxylase, 11-hydroxylase, 3-βhydroxysteroid dehydrogenase deficiencies
Tx dexamethasone qd

12. Imperforate Hymen
hymen = junction of sinovaginal bulbs with urogenital sinus
becomes perforate in utero
1 : 1000
types: imcomplete, septate, cribriform, microperforate
Sg/Sx: bulging membrane at introitus, amenorrhea, hydro/muco/hematocolpos, hematometra
Tx: cruciate, triangular, oval incision

13. Mullerian agenesis = Mayer-Rokitansky-Kuster-Hauser syndrome
absence of vagina and uterus (+/- rudimentary uterine horns)
1/4,000 – 10,000
75 % no vagina, 25% short vagina
ovaries normal, Fallopian tubes present
50% w/ urinary tract anomalies:
12% skeletal abnormalities
Sx/Sg: primary amenorrhea, vaginal agenesis
Tx: vaginal dilators, vaginal reconstruction (Abbe-McIndoe), neovagina (labial skin graft)

14. Androgen insensitivity syndrome
= Testicular Feminization
46 XY
faulty testosterone R’s
Mullerian structures
Vaginal agenesis
no pubic hair
Tx: remove testes after growth spurt to avoid gonadoblastoma

15. Transverse Vaginal Septum
Mullerian tubercle = joining of mullerian ducts w/ sinovaginal bulbs
incomplete canalization at mullerian tubercle (at junction of upper 1/3 and lower 2/3 of vagina)
1-2 cm thick
1/75,000
associated w/ DES
Sx/Sg: mucocolpos, mucometrium, hematocolpos/metrium, foul smelling discharge
Tx: dilatation/excision

16. Vaginal Adenosis poor demarkation of mullerian vs sinovaginal junction
invasion of mullerian ducts into sinovaginal area  adenosis (submucosal)
DES exposure

17. Mullerian Development
from clefts b/w mesonephros & gonads caudal & lateral to mesonephric ducts
grow caudally and meet in midline at Mullerian tubercle (junction with sinovaginal bulbs)
Stage 1 (wk 10) – medial aspects of caudal portions fuse (starting in middle & proceeding in both dir’ns)  septum
Stage 2 (wk 10-13) – rapid midline cell proliferation  thick upper septum; lower portion on the median septum resorbed rostrally to caudally
Stage 3 (wk 13-20) – degeneration of upper uterine septum

18. Vaginal Development
from sinovaginal bulbs (outgrowth of urogenital sinus)
cord  canalization beginning at hymen and ending at cervix
canalization ends at wk 21

19. Associated Abnormalities
depends on timing of teratogenesis specific to stage of development
uterine didelphys – after mesonephric development – no renal anomalies
communicating uteri w/ atretic hemivagina or w/ hemicervix  ipsilateral renal agenesis

20. Mullerian Fusion Abnormalities
polygenic/multifactorial
37% - bicornuate
28% - arcuate
11% - didelphys
9% - complete septum
4% - unicornuate

21. Mullerian Fusion Abnormalities

22. Mullerian Fusion Abnormalities - 2
Sx/Sg:
tampons do not obstruct uterine flow
cyclic abdominal pain w/ fluid/mass in vagina/abdomen
recurrent miscarriage – esp early 2nd trimester
abnormal uterine activity in labor
abnormal fetal presentation
Dx: SOH, HSG, Hysteroscopy, US (not diagnostic), MRI
concurrent evaluation of urinary tract is indicated

23. Absent Uterus & Cervix +/- Fallopian tubes & some fibrous tissue
50 % associated w/ urinary tract anomalies

24. Unicornuate Uterus from destruction of Mullerian duct on one side
absence of kidney/ureter on same side
fallopian tube on the present side
ovary on the opposite side
Sg/Sx: recurrent prego loss

25. Mullerian Fusion Abnormalities - 3
Tx (goal to improve fertility)
Metroplasty – laparotomy wedge resection of septum with uterine reaproximation
Hysteroscopic septal resection +/- concurrent laparoscopy (avoids adhesions  infertility)
post op IUD for 30 ds +/ mcg/day conjugated E
evaluation for cervical competency in pregnancy

26. Ovarian Abnormalities
Accessory Ovary
1/93,000
excess tissue near and connected to normal ovary
Supernumerary Ovary
1/29,000
omentum, retroperitoneal
dermoid cysts
Ovotestes
true hermaphrodite
testes – malignant transformation, closer to groin  remove at puberty
ovaries – gonadoblastoma, dysgerminoma

27. References
Lentz, GM Comprehensive Gynecology. Sixth Edition. Chapter 11 – Congenital Abnormalities of the Female Reproductive Tract. Mosby, Elsevier Inc.;
Yin, Aidi. Med School Embryology Lecture