Congenital Gynecologic Defects and Mullerian Abnormalities

Question 1

Four cardinal steps in Mullerian development

Answer 1

• Elongation → Mullerian ducts start as buds and then elongate
• Fusion → solid tubes fuse and remain solid. They are not hollow.
• Canalization
• Septal Resorption

Question 2

Obstructive vs. Non-obstructive defects

Answer 2

• “Obstructive” lesions = completely or partially block obstruction of menstrual outflow and / or prevent or impede vaginal intercourse.
  
  • Obstructive lesions include transverse vaginal septum, described in detail below.
• “Non-obstructive” lesions include everything else, including a bicornuate uterus

Question 3

Example of failure of elongation of ducts (bilateral)

Answer 3

• condition: mullerian agenesis

Question 4

Example of failure of elongation of ducts (unilateral)

Answer 4

• condition: Unicornuate Uterus

Question 5

Example of failure of fusion of ducts

Answer 5

• condition: uterine didelphys

Question 6

Example of failure of canalization

Answer 6

• condition: vaginal agenesis

Question 7

Example of failure of septal resorption

Answer 7

• condition: septate uterus

Question 8

Unicornate uterus: congential origins, symptoms

Answer 8

• Congenital origins: the uterus is formed from one only of the paired Müllerian ducts while the other Müllerian duct does not develop or only develops in a rudimentary fashion
• Symptoms: Women with the condition may be asymptomatic and unaware of having a uniconuate uterus; normal pregnancy may occur.

Question 9

Unicornate uterus: treatment, reproductive consequences

Answer 9

Treatment: Remove obstructing abnormalities

Reproductive Consequences: Patients with a unicornuate uterus are at a higher risk for pregnancy loss and obstetrical complications. Once the small horn can no longer accommodate growth, it will rupture, causing significant hemorrhage.

Question 10

Mullerian agenesis: congenital origins, sx

Answer 10

• Congenital origins: failure of the müllerian ducts to develop, resulting in a missing uterus and fallopian tubes and variable malformations of the upper portion of the vagina.
• Symptoms: Primary amenorrhea

Question 11

Mullerian agenesis: tx, reproductive consequences

Answer 11

Treatment: there are treatments to increase the comfort in sexual intercourse, there are none to let the woman herself become pregnant.
Reproductive consequences: If there is no uterus, women with MRKH cannot carry a pregnancy. However, it is possible for these women to have genetic offspring by in vitro fertilisation (IVF) and surrogacy in someone else.

Question 12

Didelphys: congenital origins

Answer 12

• the fusion of the two paramesonephric ducts (also called mullerian ducts) ==> uterus
• This process usually fuses the two mullerian ducts into a single uterine body but fails to take place in these affected women who maintain their double mullerian systems.
• A didelphic uterus will have a double cervix and is usually associated with a double vagina.

Question 13

Didelphys: sx, reproductive consequences

Answer 13

Symptoms: may be asymptomatic and unaware of having a double uterus. Gynecological complaints include dysmenorrhea and dyspareunia.

Treatment:

Reproductive Consequences

May need special attention during pregnancy as premature birth and malpresentation are common

In some studies has also been found associated with higher rate of infertility, spontaneous abortion

Question 14

Vaginal atresia: congenital origins

Answer 14

• Congenital origins: urogenital sinus fails to contribute the caudal portion of the vagina.
• The lower fifth to third of the vagina is replaced by 2 to 3 cm of fibrous tissue, above which lie a well-differentiated upper vagina, cervix, uterine corpus, and fallopian tubes

Question 15

Vaginal atresia: sx, tx, reproductive consequences

Answer 15

Symptoms: Hydrometrocolpos (watery fluid in uterus and vagina), primary amennorhea

Treatment: Reconstructive surgery

Reproductive consequences: unknown to us

Question 16

Transverse vaginal septum: congenital origins

Answer 16

• Canalization of the mullerian tubercle and sinovaginal bulb is necessary to give a normal vaginal lumen.
• If the area of junction between these structures is not completely canalized, a transverse vaginal septum will occur.
• This may be partial or complete and generally lies at the junction of the upper third and lower two thirds of the vagina.

Question 17

Transverse vaginal septum: sx

Answer 17

• prepubertal state, diagnosis is generally not made unless there is the development of a mucocolpos or mucometrium behind the septum.
  
  • In these girls an unexplained abdominal mass forms.
• At puberty, however, if the septum is complete, hematocolpos and hematometrium may occur
  
  • pt complains of primary amenorrhea with cyclic cramping.
• incomplete may have some bleed, but also ==> hematocolpos/hematometrium

Question 18

Transverse vaginal septum: tx

Answer 18

• If the septum is incomplete or thin, it can be expanded by manual dilation or simple incision, with suturing of the edges of the vagina on either side.
• In cases of a thick septum, the two areas of the vagina may be quite distant.
  
  • In such cases excision may require the implantation of a split-thickness skin graft in a fashion similar to the Abee-McIndoe procedure.

Question 19

Septate uterus: congenital origins

Answer 19

• During this fusion of uterus a resorption process eliminates the partition between the two ducts to create a single cavity.
• This process begins caudally and advances cranially, thus a complete septum formation represents an earlier disturbance of this absorption than the incomplete form.

Question 20

Septate uterus: sx, tx, reproductive consequences

Answer 20

Symptoms: may not be known to the affected individual and not result in any reproductive problems; thus normal pregnancies may occur.

Reproductive Consequences: High rate of first trimester pregnancy loss due to poor vascularity of septum, premature birth, and malpresentation.

Treatment: Septum can be resected with surgery.

Question 21

Diethylstilbestrol (DES) congenital defects as result of mother’s use during pregnancy: gyn defects

Answer 21

• a T-shaped uterus
• small hypoplastic uterus
• constriction bands
• widened lower uterine segment
• narrow fundal segment of endometrium
• irregular endometrial margins
• intraluminal filling defects.

Question 22

Diethylstilbestrol (DES) congenital defects as result of mother’s use during pregnancy: sx, tx

Answer 22

Symptoms:

Reproductive consequences: two-fold increase in spontaneous abortion, nine-fold increase in ectopic gestation. Also an association with premature labor and perinatal mortality. Also increased risk of vaginal clear cell carcinoma.

Male babies: cryptorchidism, hypospadias, and infertility.

Treatment(s):

Key point: monitor for clear cell vaginal cancer, ectopic pregnancy, cervical incompetence