Phillips - Mullerian Duct Abnormalities Flashcards
What male hormones are critical in the devo of the internal male genitalia?
- MIS/AMH: anti-mullerian hormone
- InsI3: insulin-like substance 3 -> produced by gonad, and may play a role in testicular descent
- Testosterone
Briefly describe the normal maturation of the mullerian duct.
- Absence of AMH, so mullerian ducts fuse to form tubes, uterus, cervix, upper 2/3rds of the vagina around 6-11 weeks gestation
- Uterovaginal septum resorbed 9-12 wks gestation (both cranial and caudally)
- Lower vagina is formed from the invagination of the perineal body
- Ovaries are not affected here because they devo earlier
- NOTE: interruption of this normal devo leads to MDA, and can cause significant problems
What is the prevalence of MDA? How are they discovered?
- 1-5% in the general population, so not uncommon
- 13-25% among women with miscarriages
- Can be found due to:
1. Infertility
2. Endometriosis
3. Renal anomalies
4. Incidental findings
During how many weeks of devo are M and F embryos indistinguishable?
First 6 weeks
Name some of the patterns of MDA (image).
Name some patterns of MDA (image).
Unicornuate
- Normal development of one horn; 2 ovaries
- 40% have renal anomalies on ipsilateral (same) side, and can also see skeletal abnormalities
- May have rudimentary uterine horn on other side that may/may not communicate with dominant horn
- CONSEQUENCES: normal obstetrical outcome, preterm labor, or malpresentation (breech: buttocks before head)
Uterus Didelphys
- Complete failure of duct fusion
- 2 separate uteri, 2 tubes, endometrial cavities, cervixes (rare to get pregnant on both sides, but this is possible)
- Duplicated upper vagina, and lower vagina may be separated by a septum
- Renal agenesis on one side
- CONSEQUENCES: normal outcome or preterm labor
Septate Uterus
- Most common MDA; may be complete or partial
- Smooth external uterine surface
- Associated with spontaneous pregnancy loss due to compromised implantation (avascular area)
1. Most likely to be associated with adverse pregnancy outcome -> implantation usually in fundus of the uterus, and there is avascular tissue here (septum), depriving the placenta
Bicornuate Uterus
- Cleft in the external contour of uterine fundus
- Often asymptomatic; may be partial or complete
- May have longitudinal vaginal septum
- Pretty rare
DES/T-shaped Uterus
- Diethylstilbersterol: used in 1950-60s to prevent miscarriages, but turned out to be a teratogen
- Girls exposed to DES: T-shaped uterus anomaly, and at-risk for:
1. Pregnancy loss
2. Clear cell carcinoma of the vagina - NOTE: question on every test, as per Dr. Phillips
What is Rokitansky Kunster Hauser syndrome?
- Complete agenesis of Mullerian structures
- Presents with amenorrhea b/c no upper vagina, cervix, uterus or tubes
1. Come in b/c don’t start period (16ish), but will still have breast devo b/c still have ovaries - Renal and skeletal anomalies
- Treatment: create a neovagina
1. Infertility without treatment - NOTE: can present later if immigrant or someone who has not had regular OB care (or education)
What is going on here? How might this present?
- Imperforate hymen
- Failure of reabsorption of uterovaginal septum (normally reabsorbed wks 9-12)
- Presents with amenorrhea, cyclic pain, abdominal mass
Pt. with breech baby delivered at 36 weeks, and unicornuate uterus found. What else should you do?
Evaluate patient for renal abnormalities (40% have renal anomalies on ipsilateral side)
Patient being evaluated for recurrent pregnancy loss (3 miscarriages). What should the patient be advised/what might you need to think about dx-wise?
Septate uterus may be causing her symptoms
