1. CHAPTER 37 ANATOMIC DISORDERS OF THE FEMALE REPRODUCTIVE SYSTEM
Jing-Xin Ding
The Obstetrics and Gynecology Hospital of Fudan University
Good morning, today our topic is ANATOMIC DISORDERS OF
THE FEMALE REPRODUCTIVE SYSTEM.
I am Ding Jingxin, from the The Obstetrics and Gynecology Hospital of Fudan University

2. Normal Female Anatomy
This is the normal female anatomy, which includes the 2 ovaries and fallapian tubes, the uterus, the cervix and the vagina.

3. Section 1 The development of the female reproductive system
Testis-determing factor,TDF on the Y chromosome
The primordial germ cell to develop to ovary or testis
First, let’s look at section 1 …
During the stage of embryonic development, testis-determing factor,TDF on the Y chromosome decides the primordial germ cell to develop to ovary or testis.

4. Section 1 The development of the female reproductive system
Ovary ——yolk sac endoderm
Primordial germ cell→urogenital ridge→（lacking testis-determing factor,TDF） →ovary（8W）
In female, the karyotype is 46,xx, and the primordial germ cell migrate from the yolk sac to the urogenital ridge, and developed to ovary.

5. Genital tract ——Mullerian duct (Paramesonephric duct)
In the absence of anti-müllerian hormone (AMH), the mesonephric duct system degenerates, and the paramesonephric duct system subsequently develops.
Cephalic segment→Fallopian tubes
Middle segment→Uterus corpus and cervix
In female, the gonad is ovary, there is no anti-müllerian hormone (AMH) secreted, lead to the development of the paramesonephric system, with the regression of the mesonephric system. The upper vagina, cervix, uterine corpus, and fallopian tubes are formed from the paramesonephric (müllerian) ducts.
The cephalic
The middle segment fused with each other, and develops to a single uterus and a single cervix.

6. The development of the vagina
Inferior segment of the Mullerian tube→Upper segment of the vagina
The urogenital sinus → the lower 2/3 vagina
The vagina is developed from
The mullerian tube fused with the urogenital sinus, and …

7. External Genitalia——urogenital Fold
Autonomic →Female
Androgen and its enzyme (5α–Reductase) and its receptor→Male
The external genitalia is developed from…
It is very interesting that if there is no androgen and no estrogen, the urogenital fold autonomicly deveolped to the female external genitalia.
And the development of the male external genitalia requires the presence of the androgen, and the presence of its enzyme and the presence of androgen receptor.

8. Summary Testis-determing factor,TDF on the Y chromosome
Section 1
The development of the female reproductive system
Summary
Testis-determing factor,TDF on the Y chromosome
The primordial germ cell to develop to ovary or testis

9. Genital tract ——Mullerian duct (Paramesonephric duct)

10. Genital tract abnormalities
Section 2
Genital tract abnormalities
Common Reason
Improper fusion of the paramesonephric ducts
Incomplete development of one paramesonephric duct
Failure of part of the paramesonephric duct on one or both sides to develop
Absent or incomplete canalization of the vaginal plate
Now let’s look at section 2 …
1 Unsuccussful fusion of the 2 ducts 2
3 Failure of part of the duct to develop
4 No canalization or incomplete canalization of …

11. I Imperforate hymen
-- the mildest form of the canalization abnormalities. It occurs at the site where the vaginal plate contacts the urogenital sinus.
--Blood accumulate in the vagina (hydrocolpos) or uterus (hydrometrocolpos) and result in a bulging hymen that is often bluish in color
The 1st anatomic disorder we introduce today is …

12. Clinical Manifestation
a history of vague abdominal pain with approximately monthly exacerbations
No menstruation
Abdominal pain occurs approximately every month, and the pain is progressive.

13. Diagnosis Physical Examination
A bulging hymen that is often bluish in color
A palpable cystic mass compressing rectum by anal examination.
Auxiliary Examination
B-mode ultrasonic examination： hydrocolpos or hydrometrocolpos

14. Treatment Paracentesis to confirm the diagnosis.
Making a cruciate incision to open the vaginal orifice, excising the redundant hymen, and suturing the hymen with absorbable materials.
Examining the cervix regularlly .
--Placing a needle into the hematocolpos

15. II VAGINA CONGENITAL ABNORMALITIES

16. Congenital absence of vagina
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

17. Clinical manifestation
The incidence is estimated to be 1 in live-born girls.
Primary amenorrhea
Difficulty in sexual activity
Most patients have primordial uterus without functional endometrium, no periodic abdominalgia.

18. Diagnosis Physical Examination
Normal secondary sexual characteristics
Generally, a complete form of vaginal agenesis is noted in 75% of patients with MRKHS, and approximately 25% have a short vaginal pouch.
B-mode ultrasound: the presence of rudimentary uterus without functional endometrium on the both side of the pelvis and intact bilateral adnexae.
Karyotype ：46，XX
Hormonal analyses: within the normal ranges
About 75% of MRKHS patients have no vagina at all, and 25% of them has a short vaginal pouch about 2-3 cm long.

19. Treatment Vaginal dilation treatment Surgical vaginoplasty
If the patient has a short vaginal pouch, Vaginal dilation treatment is a successful method of vaginal creation, and avoids the risks of surgery. We instruct the patient to use different sized vaginal mould to gradually dilate the vagina. If the patients has no vagina at all, this method does not work, the patients has to underwent …

20. Vaginoplasty in patients with MRKH syndrome
Davydov technique
Intestinal vaginoplasty - Segments of sigmoid colon is employed for vaginal replacement.
Mclndoe-Reed vaginoplasty (Abbe-Mclndoe-Reed) technique
Acellular porcine small intestinal submucosa(SIS) graft
The therapeutic approach for the congenital absence of the vagina varied in different ways. regarding the material adopted for the canal lining. Davydov technique used peritoneum for vaginal reconstruction,
The Mclndoe-Reed technique used skin for , and recently we used the acellular porcine small intestinal submucosa graft to reconstruct

21. Laparoscopic Davydov technique
This is …, which used the peritoneum of the cul-de-sac to … First, water is injected between the urethra, bladder and the rectum to allow easy dissection, and then a 9 cm a canal was made using sharp and blunt dissection along the anatomic vaginal route. Then a stick was used to dirrected the peritoneum down, and the peritoneum was sutured with the mucosa of the introitus. Finally the top of the neovaginal was closed by purse-string suture.

22. Intestinal vaginoplasty - Segments of sigmoid colon is employed for vaginal replacement.
夹闭试验选择肠段血管
切取肠段18cm顺时针逆蠕动放置
自乙状结肠放置吻合器钉钻
自直肠放置管状吻合器
This is … A segment of was choosen, and resected to construct the neovagina, and the rest of the intestine was anastomosed.

23. Mclndoe-Reed vaginoplasty
The skin grafts used to line the neovagina are harvested from the donor site with the aid of an electrodermatome, which is able to shave grafts of varying size and depth. the electrodermatome settings are adjusted to shave the desired depth

24. Vaginoplasty using acellular porcine small intestinal submucosa (SIS) graft
The … is a commercialized product, it can…
放录像，This is the graft, this is the plastic vaginal mould, the graft was trimmed and surtured to wrap the vaginal mould, and then the mould covered by SIS graft was placed in the neovagina.

25. Acellular matrix graft promote the rapid ingrowth of surrounding tissue and epithelialization of the neovagina is allowed to occur 25

26. Pictures under colposcopy (Schiller’s Iodine test)
1 week post surgery
2 month post surgery
Figure 2. (a) The appearance of neovagina under colposcopy 1 week post surgery. (b) Iodine test show there is no squamous epithelialization over SIS graft. (c) The appearance of neovagina under colposcopy 2 months post surgery. The neovagina had lots of new vasculars and granulation tissue and was easy to bleed during gynecologic examination. (d) Squamous epithelialization of the neovagina was noted by Schiller’s Iodine test.

27. The appearance of the neovagina 6 months post surgery
The appearance of the neovagina under colposcopy 6 months post surgery, and the appearance of the neovagina was almost the same with normal adult vagina.

28. And this is our recently published paper in Gynecol Obstet Invest.

29. Atresia of Vagina ---lack the lower portion of the vagina
---the urogenital sinus does not participate in the formation of the vagina.
The 2nd type of vagina abnormality we introduce today is …
Do you remember that the upper … is from…, and the lower portion…It occurs because the urogenital sinus does not participate in the formation of the vagina.

30. Clinical Manifestation The same symptom with imperforate hymen.
Cyclic lower abdominal pain
Amenorrhea
a history of vague abdominal pain with approximately monthly exacerbations
No menstruation

31. Diagnosis Physical Examination Auxiliary Examination
A palpable cystic mass compressing rectum by anal examination, but the location of the mass is higher than that in imperforate hymen.
No bluish bulging hymen
Auxiliary Examination
B-mode ultrasonic examination： hydrocolpos or hydrometrocolpos
MRI

32. Treatment Early surgery
CHAPTER 37 ANATOMIC DISORDERS OF
THE FEMALE REPRODUCTIVE SYSTEM
Treatment
Early surgery
Vaginal dilation with vaginal mould post surgery
If the treatment is delayed, endometriosis will aggravate.

33. Transverse Vaginal Septum
The next vaginal abnormality is …

34. Failure of vertical fusion ( complete cavitation of the vaginal plate between the sinovaginal bulbs and uterovaginal canal).
More common in the upper portion, that is, at the junction between the sinovaginal plate and the caudal end of the fused müllerian ducts
The upper segment of the vagina is developed from… the lower… Vertical fusion refers to complete cavitation of the vaginal plate between the sinovaginal bulbs and uterovaginal canal. Transverse vaginal septum may be caused by a failure of this process.
Transverse vaginal septum can develop at any level within the vagina but is more common in the upper portion, that is, at the junction between the sinovaginal plate and the caudal end of the fused müllerian ducts.
--See Williams Gynecology

35. The septum may be obstructive, with accumulation of mucus or menstrual blood, or may be non-obstructive, allowing for egress of mucus and blood.
Sometimes the septum has a hole on it…

36. Clinical Manifestation
Obstructive transverse vaginal septum
-- usually present during adolescence with cyclic lower abdominal pain, amenorrhea, and gradual development of a central pelvic mass.
Nonobstructive transverse vaginal septum
-- complain of abnormal menstrual flow, pain with intercourse, difficulty in placing or removing tampons, or obstructed labor.
Usually there is prolonged menstruation.

37. Diagnosis
The diagnosis is suspected when an abdominal or pelvic mass is palpated or when a foreshortened vagina and inability to identify the cervix is encountered.

38. Diagnosis is confirmed by either sonography or magnetic resonance (MR) imaging. Magnetic resonance imaging is most helpful prior to surgery to determine the thickness and depth of the transverse septum.
In addition, MR imaging may identify if a cervix is present, thereby differentiating a high vaginal septum from cervical agenesis.
Figure: Magnetic resonance image of complete low transverse septum with obstruction. Marked hematocolpos is identified (arrows) in this 13-year-old female. The relatively low signal intensity on T2-weighted imaging is consistent with subacute blood. The uterus is seen above the hematocolpos.

39. Treatment
Surgical repair is dependent upon septal thickness. Smaller septa may be approached by excision with an end-to-end anastomosis of the upper to the lower vagina. Skin grafts may occasionally be necessary to cover a defect left by excision of very thick septa.

40. Longitudinal Vaginal Septum
The next we are looking at is …

41. Results from defective lateral fusion and incomplete reabsorption of the paired müllerian ducts. These septa are generally seen with partial or complete duplication of the cervix and uterus.
The 2 mullerian ducts fused with each other to form the uterus and the upper vagina.

42. Clinical Manifestation
No syptoms
Difficulty with intercourse
黏膜壁上端近宫颈，完全纵隔下端达阴道口
　　　　　　　　　　不全纵隔未达阴道口

43. Treatment --can be managed conservatively unless dyspareunia develops.
Surgical treatment includes resection of the longitudinal septum.

44. Oblique Vaginal Septum Syndrome
Herlyn-Werner-Wunderlich syndrome (HWWS)
In patients with 2 uterus and 2 cervix, there is a special vaginal septum, it is like this– oblique, and is callled the…

45. Classification Uterus didelphys with obstructed hemivagina.
Complete obstruction.
Partial vaginal communication.
Partial uterine communication.
These patients usually has…

46. Clinical Manifestation
Normal menarche, but reports worsening monthly unilateral vaginal and pelvic pain.
In Type II and Type III, the patients have prolonged period (bloody discharge post menstruation).
On examination, a patent vagina and cervix is noted, but a unilateral vaginal and pelvic mass can be seen.

47. Treatment Wide excision of the obstructing septum.
The treatment for this type of vaginal septum is…

48. III UTERUS CONGENITAL ABNORMALITIES
Next, we’ll look at …, which includes Agenesis of the cervix, Unicornuate uterus, Didelphus, Bicornuate uterus, septate uterus, Arcuate uterus. The most common anomalies of the uterus result from either incomplete fusion of the paramesonephric ducts, incomplete dissolution of the midline fusion of those ducts, or formation failures. Failure of fusion is most evident in uterus didelphys, which presents with two separate uterine bodies, each with its own cervix and attached fallopian tube and vagina. Unicornuate uterus with a rudimentary horn also represents a fusion failure. Less complete fusion failure is seen in the bicornuate uterus with or without double cervices. Incomplete dissolution of the midline fusion of the paramesonephria explains the septate uterus . All of these conditions occur in normal karyotypic and phenotypic females but can be associated with important anomalies of the urinary system.
Although all of these anomalies can occur spontaneously, they may also be caused by early maternal exposure to certain drugs. The most notable of these drugs is diethylstilbestrol (DES). A DES-exposed female infant has an increased risk for a small, T shaped endometrial cavity or cervical collar deformity.

49. Congenital atresia of the cervix
First, let’s look at …

50. Clinical Manifestation
lack the upper vagina. The uterus, however, usually develops normally.
similarly to patients with other obstructive anomalies-- primary amenorrhea and cyclic abdominal or pelvic pain.
endometriosis may have developed secondary to retrograde menstrual flow
Because of the common müllerian source, women with congenital absence of the cervix typically also lack the upper vagina.
If a functional endometrium is present, a patient may have a distended uterus, and endometriosis may have developed secondary to retrograde menstrual flow.

51. Classification lack a cervix (cervical agenesis)
An intact cervical body with obstruction of the cervical os
a cervical body consisting of a fibrous band
cervical fragmentation
Rock JA, Carpenter SE, Wheeless CR, Jones HW. J Pelv Surg 1995;1:

52. Diagnosis Treatment Sonography MR imaging Hysterectomy
Creation of an epithelialized endocervical tract and vagina
Conservative management with oral contraceptive pills
Usually, hysterectomy is recommended. If the patients and her parents have a strong will to preserve the uterus, we can create an epithelialized endocervical tract and vagina. But this procedure is associated with significant morbidity, including infection, recurrent obstruction, etc. Alternatively, conservative management with oral contraceptive pills may be used to suppress retrograde menses. Thus, the uterus may be retained for possible reproductive potential. Successful pregnancy using zygote intrafallopian tube transfer has been reported.

53. Unicornous uterus
-- Arrested or defective development of only one of the müllerian ducts results in a unicornuate uterus
The 2nd abnormality of the uterus we introduce today, is… … occurrs, because of the arrested or defective development of only one of the müllerian ducts

54. [Clinical Manifestation]
No symptom
An increased incidence of infertility, abortion, preterm labor and rupture of the uterus during late pregnancy.
[Diagnosis]
Sonography
MR imaging
[Treatment]
No treatment

55. Rudimentary horn of the uterus
Patients with Unicornous uterus of one side usuallly has … on the other side.

56. Classification

57. [Clinical Manifestation]
Dysmenorrhea in type B.
Pregnancy loss and premature labor.

58. -- failed fusion of the paired müllerian ducts
CHAPTER 37 ANATOMIC DISORDERS OF
THE FEMALE REPRODUCTIVE SYSTEM
Uterus didelphys
-- failed fusion of the paired müllerian ducts
A didelphic uterus results when there is failed fusion of the paired müllerian ducts

59. --Incomplete dissolution of the midline fusion of the paramesonephria
CHAPTER 37 ANATOMIC DISORDERS OF
THE FEMALE REPRODUCTIVE SYSTEM
Septate uterus
--Incomplete dissolution of the midline fusion of the paramesonephria
Incomplete dissolution of the midline fusion of the paramesonephria explains the septate uterus.

60. Uterus bicornis Saddle form uterus

61. Summary Imperforate hymen
-- the mildest form of the canalization abnormalities. It occurs at the site where the vaginal plate contacts the urogenital sinus.
--Blood accumulate in the vagina (hydrocolpos) or uterus (hydrometrocolpos) and result in a bulging hymen that is often bluish in color
The 1st anatomic disorder we introduce today is …

62. Clinical Manifestation
CHAPTER 37 ANATOMIC DISORDERS OF
THE FEMALE REPRODUCTIVE SYSTEM
Clinical Manifestation
a history of vague abdominal pain with approximately monthly exacerbations
No menstruation
Abdominal pain occurs approximately every month, and the pain is progressive.

63. Diagnosis Physical Examination
CHAPTER 37 ANATOMIC DISORDERS OF
THE FEMALE REPRODUCTIVE SYSTEM
Diagnosis
Physical Examination
A bulging hymen that is often bluish in color
A palpable cystic mass compressing rectum by anal examination.
Auxiliary Examination
B-mode ultrasonic examination： hydrocolpos or hydrometrocolpos

64. Treatment Paracentesis to confirm the diagnosis.
Making a cruciate incision to open the vaginal orifice, excising the redundant hymen, and suturing the hymen with absorbable materials.
Examining the cervix regularlly .
--Placing a needle into the hematocolpos

65. II VAGINA CONGENITAL ABNORMALITIES
Congenital absence of vagina
Atresia of vagina

66. Transverse Vaginal Septum
The next vaginal abnormality is …

67. Longitudinal Vaginal Septum
The next we are looking at is …

68. Oblique Vaginal Septum Syndrome
Herlyn-Werner-Wunderlich syndrome (HWWS)
In patients with 2 uterus and 2 cervix, there is a special vaginal septum, it is like this– oblique, and is callled the…

69. III UTERUS CONGENITAL ABNORMALITIES
CHAPTER 37 ANATOMIC DISORDERS OF
THE FEMALE REPRODUCTIVE SYSTEM
III UTERUS CONGENITAL ABNORMALITIES
Next, we’ll look at …, which includes Agenesis of the cervix, Unicornuate uterus, Didelphus, Bicornuate uterus, septate uterus, Arcuate uterus. The most common anomalies of the uterus result from either incomplete fusion of the paramesonephric ducts, incomplete dissolution of the midline fusion of those ducts, or formation failures. Failure of fusion is most evident in uterus didelphys, which presents with two separate uterine bodies, each with its own cervix and attached fallopian tube and vagina. Unicornuate uterus with a rudimentary horn also represents a fusion failure. Less complete fusion failure is seen in the bicornuate uterus with or without double cervices. Incomplete dissolution of the midline fusion of the paramesonephria explains the septate uterus . All of these conditions occur in normal karyotypic and phenotypic females but can be associated with important anomalies of the urinary system.
Although all of these anomalies can occur spontaneously, they may also be caused by early maternal exposure to certain drugs. The most notable of these drugs is diethylstilbestrol (DES). A DES-exposed female infant has an increased risk for a small, T shaped endometrial cavity or cervical collar deformity.

70. Remember
A young girl with cyclic abdominal pain --- ANATOMIC DISORDERS OF THE FEMALE REPRODUCTIVE SYSTEM --- Gynecologic examination and B ultrasonic examination

71. 丁景新 Jingxin Ding

72. THANKS FOR YOUR TTENTION