Lecture 26: Congenital Abnormalities CPC

Question 1

What are the characteristics of female genital ducts?

Answer 1

Mullerian (paramesonephric) ducts form most of the reproductive tract
Uterine tubes (fallopian tubes) develop from the unfused portion of the paramesonephric ducts while the inferior portions fuse and form the UTEROVAGINAL PRIMORDIUM
The sinovaginal bulbs then fuse to form the VAGINAL PLATE
Central cells of the vaginal plate degenerate to form the LUMEN OF THE VAGINA
This lumen is separated from the uterogenital sinus cavity by the HYMEN

Question 2

What are vertical fusion defects?

Answer 2

(fusion of uterus to the urogenital sinus)
1. High transverse vaginal septum
2. Mid transverse vaginal septum
3. Low transverse vaginal septum
4. Imperforate hymen
5. Cervical agenesis
6. Cervical Dysgenesis
7. Mullerian agenesis aka Mayer-Rokitansky-Kuster-Hauser-Syndrome (MRKH)
	-vaginal agenesis…no vagina or ovaries
TRANSVERSE SEPTUM blocks canal of vagina

Question 3

What is Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH)?

Answer 3

Vaginal agenesis

No vagina or ovaries

Question 4

What are the lateral fusion defects?

Answer 4

When the two sides don’t meet in the middle (fusion of the paramesonephric duct)

1. Uterus Didelphys
   
   • two vaginas
2. bicornuate uterus
3. septate uterus
4. Unicornuate uterus
5. Blind uterine horn, connected
6. Blind uterine horn, separate
7. Uterus Didelphys with obstructed hemi-vagina

Question 5

If woman has breast development but no menarche, then you need to ask what?

Answer 5

Does girl have uterus?
Vertical or lateral fusion defect?
Pelvic exam
Rectal exam to feel uterus….
Use ultrasound

Question 6

What are classifications of Mullerian anomalies?

Answer 6

Vertical anomaly defects

Horizontal anomaly defects

Question 7

What are the characteristics of Mullerian agenesis?

Answer 7

Incidence of 1/5000 female births
Present with primary amenorrhea
Normal ovarian function, normal sexual development
BUT
Absent vagina or absent/abnormal mullerian structures
Must differentiate from androgen insensitivity syndrome (AIS)
Etiology not known

Question 8

What is non-surgical treatment for mullerian agenesis?

Answer 8

Pressure technique (shoving dildos in space of vagina to create space)
Takes 6-12 months
Success 85-90%

Question 9

What is differential for girl that has belly pain without menses?

Answer 9

Lower septum and imperforate hymen, blood is accumulating

Question 10

What are the characteristics of imperforate hymen?

Answer 10

Failure degeneration cells Mullerian duct and urogenital sinus
Not considered mullerian anomaly
Usually sporadic

Question 11

If girl presents to clinic with normal menses but severe vomiting that is associated with period, what should you think of?

Answer 11

Think of lateral vaginal defects

Uterus didelphys with hemiblock

Question 12

What is the most common mullerian anomaly?

Answer 12

Septate uterus

Question 13

What is a septate uterus?

Answer 13

Lateral fusion defect
Fusion of the horns
However, no resorption of the septum (the partition of the uterine cavity that SHOULD disappear)

Question 14

When a patient is missing a kidney, what is she at risk for?

Answer 14

Uterus didelphys with obstructed hemi-vagina
Think of girl who had nausea and pain anytime in menstruation in fluent news reader article
One kidney = obstructive mullerian anomaly