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Congenital Abnormalities of the Female Reproductive Tract
by Ekaterina TchmoutinaR1
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
• Mesonephric Remnants – epoophoron, paraophoron, Gartner’s cyst
Female Reproductive Tract Embryology - 2
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