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