Congenital Abnormalities of the

Female Reproductive Tract

by Ekaterina Tchmoutina
R1
3/11/2015
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
 Hermaphrodites
• true hermaphrodite – ovotestes, ambiguous
external genitalia; 70% XX;
• pseudohermaphrodite – genetic sex opposite of
phenotypic
– CAH – masculinized females
– Androgen Insensitivity – feminized males
 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
Female Reproductive Tract Embryology - 2

• Mesonephric Remnants – epoophoron,

paraophoron, Gartner’s cyst
 External Genitalia Development
• genital tubercle – clitoris
• urogenital sinus – vestibule + lower 2/3 vagina
• urethral fold – labia minora
• genital swelling – labia majora
 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
CAH Pathway
CAH Pathway
CAH Treatment
 Labial Fusion
• exposure to exogenous androgens
• CAH – 22-hydroxylase, 11-hydroxylase, 3-
βhydroxysteroid dehydrogenase deficiencies
– Tx dexamethasone qd
 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
 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)
 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
 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
 Vaginal Adenosis
• poor demarkation of mullerian vs sinovaginal
junction
• invasion of mullerian ducts into sinovaginal
area  adenosis (submucosal)
• DES exposure
 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
 Vaginal Development
• from sinovaginal bulbs (outgrowth of
urogenital sinus)
• cord  canalization beginning at hymen and
ending at cervix
• canalization ends at wk 21
 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
 Mullerian Fusion Abnormalities
• polygenic/multifactorial
• 37% - bicornuate
• 28% - arcuate
• 11% - didelphys
• 9% - complete septum
• 4% - unicornuate
Mullerian Fusion Abnormalities
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
 Absent Uterus & Cervix
• +/- Fallopian tubes & some fibrous tissue
• 50 % associated w/ urinary tract anomalies
 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
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 +/- 1.25 mcg/day conjugated
E
– evaluation for cervical competency in pregnancy
 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
 References
• Lentz, GM. 2012. Comprehensive
Gynecology. Sixth Edition. Chapter 11 –
Congenital Abnormalities of the Female
Reproductive Tract. Mosby, Elsevier Inc.; 187-
198.
• Yin, Aidi. Med School Embryology Lecture