Tessa Winterton, MD, PGY3

11/9/2016

Müllerian duct abnormalities occur in 2-3%

of general population

Major anomalies are 3x more common in

women with recurrent miscarriages.• Recurrent first trimester loss: 5-10%

• Recurrent second trimester loss: 25%

Many patients asymptomatic

Symptoms: amenorrhea, dysmenorrhea,

pelvic pain, dyspareunia, infertility

Pregnancy complications include: first &

second trimester losses, preterm labor,

breech presentation, need for cerclage

WNT• Necessary for müllerian duct initiation and

suppresses Leydig cell development in the ovary.

• Implicated in müllerian agenesis

Failure of müllerian ducts to • Fuse in the midline

• Connect with the urogenital sinus

• Create the appropriate lumen in the upper vagina and uterus by resorption of the central vaginal cells

• Resorb the septum between the fused ducts

Fusion begins in midline and extends caudally and cephalad; therefore, abnormal results can exist at either end.

Hypoplasia/agenesis

Unicornuate

Didelphys

Bicornuate

Septate

Arcuate

DES related

Distribution of Specific Anomalies

Septate Uterus 35%

Bicornuate Uterus 26%

Arcuate Uterus 18%

Unicornuate Uterus 10%

Uterus didelphys 8%

Other 3%

Fritz & Speroff, p 146.

Transverse vaginal septum

Cervical agenesis

Complete müllerian agenesis (Mayer-

Rokitansky-Kuster-Hauser syndrome)• 1/4000-10,000 females

• Complete vaginal agenesis

• 90% have cervical and/or uterine agenesis

• 10% have rudimentary müllerian structure

Clinical presentation: primary amenorrhea, normal breast & pubic hair development, no visible vagina

Evaluation• Karyotype, renal sono, spinal X-rays, pelvic sono or

MRI (if suspect function uterine remnant)

Urologic anomalies are common (15-50%)Skeletal malformations involving vertebrae

(scoliosis), ribs, or pelvis in 10-15% of patients

Treatment:• Goal is for normal ovarian function

• Functional vagina can be created by progressive

vaginal dilation (>90% success)

• Vaginoplasty (Vecchietti or McIndoe)

• If functional müllerian remnant remains,

recommend laparoscopic removal

Müllerian AgenesisAndrogen Insensitivity

Syndrome

Menses Primary amenorrhea Primary amenorrhea

Breast Present Present

Pubic & axillary

hairPresent Absent

Uterus, Vagina Absent Absent or short

Testosterone Female range Male range

Karyotype 46,XX 46, XY

Failure of development of one müllerian duct

Increased risk of

• Endometriosis, early SAB, ectopic pregnancy,

abnormal fetal presentation, IUGR, preterm labor

Urinary tract anomaly in 40% of patients

Rudimentary horn• Can cause chronic pain

• Increase risk of ectopic pregnancy

• Functional vs. Non-functional endometrium

Non-functional: do not require surgical intervention

Functional: resection is recommended

Lack of fusion of two müllerian ducts leads

to duplication of corpus and cervix

Approximately 75% have midline

longitudinal vaginal septum

Increased risk of SAB and preterm labor

Occasionally one side is obstructed • Surgically corrected

Incomplete fusion of the two müllerian

ducts produces single cervix w/ varying

degree of separation in the two uterine

horns

Increased risk of SAB and preterm labor

No surgical intervention is recommended.

Partial to complete lack of resorption of the midline septum between the two müllerian ducts

Not an established cause of infertility, but improved pregnancy rates once removed

The greater the septum, the increased risk of SAB, preterm labor, IUGR, breech presentation.

Complete septum SAB rates: 90%• Decreases to 10% after hysteroscopic resection

Slight midline septum, heart-shaped cavity

No adverse impact on reproductive outcome

Women exposed to diethylstilbestrol from

1938 to early 1970s

DES alters HOX gene expression

Many anomalies: • Hypoplastic T-shaped uterus

• Irregular cavities with adhesions

• Increased risk of ectopic pregnancy, SAB, preterm

labor, cervical incompetence

• Vaginal clear cell carcinoma

Class Description

I Transverse vaginal septum (obstructing or non-

obstructing)

II Longitudinal vaginal septum (obstructing or non-

obstructing)

III Stenosis or iatrogenic

Vertical fusion defect

Rarely associated with uterine anomalies

Symptoms: primary amenorrhea and/or

cyclic pelvic pain

Need pre-op imaging to identify cervix

Surgical repair: resection with end-to-end

anastomosis

Lateral fusion failure or incomplete

resorption

Associated with complete septate uterus,

uterus didelphys, bicornuate uterus

20% have associated renal anomalies

Symptoms: difficult tampon insertion or

dyspareunia

Surgical resection if symptomatic

Pelvic ultrasound

(including 3D TVUS)

MRI*

Limitations of HSG• Failure to perfuse both

uterine horns

• Cannot reliably distinguish

bicornuate and septate uteri

30% of patients with müllerian anomaliesAnomalies include

• Horseshoe kidney

• Ectopic kidney

• Duplicated collecting system

• Ipsilateral renal agenesis

Imaging• IV pyelogram

• Renal sono

• CT

• MRI

Remember: embryologic origin of the

ovaries is separate & distinct from

müllerian structures.• Patients typically have normal ovaries and ovarian

function.

Use clinical presentation as clue to the

type of anomaly (obstruction vs. cavitary)

ASRM.org. Developmental Disorders of the

Urogenital Tract. Resident Module. 2015.

Clinical Gynecologic Endocrinology and

Infertility. Fritz & Speroff. 8th Edition. 2011.

Müllerian Agenesis: Diagnosis, Management,

and Treatment. ACOG Committee Opinion.

2015.

PROLOG. Reproductive Endocrinology and

Infertility. 7th Edition. 2015.