GYN 4

• Developmental anomalies of the external genitalia along with ambiguity of sex are usually genetic in origin

  
• Major anatomic defect of the genital tract is usually associated with urinary tract abnormality (40%), skeletal malformation (12%), and normal gonadal function

  
• Minor abnormality escapes attention, it is the moderate or severe form, which will produce gynecologic and obstetric problem
• Perineal or vestibular anus

  The anal opening is situated either close to the posterior end of the vestibule or in the vestibule. Rarely, it is situated in the vagina (congenital rectovaginal fistula). The opening is usually sufficiently big and continence is present. There is no problem in future reproduction. The delivery should be by cesarean section
• Treatment for perineal or vestibular anus with obstruction or high vaginal opening

  Pull-through operation bringing the anal end to the anal pit with prior colostomy
• Ectopic ureter


  The additional ureteric opening is usually in the vestibule close to the urethra or in the vagina. The main symptom is uncontrollable wetness. Partial nephrectomy and ureterectomy may be indicated or implantation of the ectopic ureter into the bladder may be done
• Significant vaginal abnormalities


  • Narrow introitus
  • Hymen abnormality
  • Septum
  • Agenesis
  • Associated abnormalities

  
• Narrow introitus


  Existence is revealed after marriage. Dyspareunia may be the first complaint, or it may be detected during investigation of infertility. Treatment is effective by manual stretching under general anesthesia or by surgical enlargement (Perineoplasty/Fenton's operation)
• Imperforate hymen


  Failure of disintegration of the central cells of the Müllerian eminence that projects into the urogenital sinus. The existence is almost always unnoticed until the girl attains the age of 14–16 years. Overall incidence is 1 in 1,000 live born females. As the uterus is functioning normally, the menstrual blood is pent up inside the vagina behind the hymen (cryptomenorrhea). Depending upon the amount of blood so accumulated, it first distends the vagina (hematocolpos). The uterus is next involved and the cavity is dilated (hematometra). In the late and neglected cases, the tubes may also be distended after the fimbrial ends are closed by adhesions (hematosalpinx)
• Clinical features of imperforate hymen

  • The girl is aged about 14–16 years. The chief complaints are periodic lower abdominal pain, which may be continuous, primary amenorrhea and urinary symptoms, such as frequency, dysuria or even retention of urine. In fact, in significant cases the presenting feature may be the retention of urine. The cause of retention is due to elongation of the urethra
• Treatment for imperforate hymen

  Cruciate incision is made in the hymen. The quadrants of the hymen are partially excised not too close to the vaginal mucosa. Spontaneous escape of dark tarry colored blood is allowed. Pressure from above should not be given. Internal examination should not be done. The patient is put to bed with the head end raised. Antibiotic should be given. The residual pathology, if any, may be detected by internal examination after the next period is over
• Partial hymenal perforation


  Micro-perforation, cribiform, septate or incomplete perforation. Women face the difficulty of inserting a tampoon or sexual activity. Surgical correction is needed to restore the normal hymenal anatomy
• Common variations of vaginal maldevelopments

  • Agenesis of vagina
  • Hypoplasia
  • Failure of vertical fusion
  • Failure of lateral fusion
• Etiological factors for Müllerian malformations are not clearly understood. The probable causes are polygenic, multifactorial, teratogens or environmental
• Pathology of Müllerian malformation

  • Failure of formation of the vaginal plate or its failure of canalization or cavitation
  • Vertical fusion defects result in failure of fusion of the Müllerian system with urogenital sinus. It may also be due to incomplete or segmental canalization of the vagina
  • Disorders of lateral fusion are also due to failure of the two Müllerian ducts to unite. This results in double uterovaginal canals. Such malformation may be obstructive or nonobstructive
  • Transverse vaginal septa are due to faulty fusion or canalization of the urogenital sinus and the Müllerian ducts. About 45% occur in the upper vagina, 40% in midvagina and 15% in the lower vagina
  • Longitudinal septum of the vagina may be present when the distal parts of the Müllerian ducts fail to fuse (fusion failure). It may be associated with double uterus and double cervix
• Partial agenesis of upper vagina

  A segment of vagina may be atretic in the upper-third. It is often associated with hypoplasia or even absence of cervix. Uterus may be normal and functioning or malformed. Primary amenorrhoea (cryptomenorrhea), hematometra, hematocolpos, cyclic lower abdominal pain and presence of lower abdominal mass (as felt per abdomen or per rectum) point to the diagnosis. Conventional treatment is hysterectomy. Currently, abdominovaginal approach is made to establish communication between the uterovaginal canal above and the newly created vagina below. Prosthesis is used to prevent restenosis

  
• Complete agenesis of vagina

  Almost always associated with absence of uterus. Some women may have rudimentary uterine horns. Some rudimentary horns are functional as they contain endometrial lining. There is menstruation, and the gonads are the healthy ovaries. The tubes are usually normal. The patient is phenotypically female, with normal female karyotype pattern. The entity is often associated with urinary tract (40%) and skeletal (12%) malformation. This is called Mayer-Rokitansky-Küster-Hauser syndrome. The patient usually seeks advice for primary amenorrhea and dyspareunia

  
• Treatment options for complete vaginal agenesis

  Nonsurgical: Repeated use of graduated vaginal dilators for a period of 6–12 months

  Surgical: McIndoe-Reed procedure (create space between bladder and rectum, use split thickness skin graft over a mold), Williams vulvovaginoplasty (create vaginal pouch from skin flaps of labia majora), Vaginoplasty with amnion graft
• Complications of vaginoplasty include vesicovaginal fistula, rectovaginal fistula, infection, bleeding, dyspareunia, restenosis
• Associated abnormalities


  • Vesicovaginal fistula (when Müllerian eminence ruptures into vesicourethral part of cloaca)
  • Rectovaginal fistula (when Müllerian eminence opens in dorsal segment of endodermal cloaca)
  • Persistent urogenital sinus with various irregularities of urethral and vaginal orifices in the sinus
• ASRM classification of Müllerian anomalies

  • Type I: Segmental hypoplasia or agenesis

  Type II: Unilateral hypoplasia or agenesis

  Type III and IV: Failure of fusion of Müllerian ducts

  Type V: Nonresorption of midline septum

  Type VI: Arcuate uterus

  Type VII: Anomalies related to in utero diethylstilbestrol (DES) exposure

  
• Incidence of Müllerian abnormalities varies between 3 and 4%. The incidence is found to be high in women suffering from recurrent miscarriage or preterm deliveries (5–20%)
• Abnormalities of the uterus (AFS classification, 1988)

  • Category I and II: Failure of development (complete or partial) of one or both the Müllerian ducts

  Category III and IV: Failure of midline fusion (varying degree) of both the ducts

  Category V and VI: Failure of resorption of the midline septum to a varying degree

  
• Types of fusion anomalies

  • Arcuate (18%): The cornual parts of the uterus remains separated. The uterine fundus looks concave with heart-shaped cavity outline

  Uterus didelphys (8%): There is complete lack of fusion of the Müllerian ducts with a double uterus, double cervix and often a longitudinal vaginal septum
• Category I and II


  Abnormalities due to failure of development (complete or partial) of one or both the Müllerian ducts
• Category III and IV

  Anomalies due to failure of midline fusion (varying degree) of both the ducts
• Category V and VI

  Anomalies due to failure of resorption of the midline septum to a varying degree
• Associated anomalies of the vagina, cervix, fallopian tubes and urinary system must be documented separately

  
• There are many anomalies that are beyond the common theory of Müllerian development
• Arcuate


  The cornual parts of the uterus remains separated. The uterine fundus looks concave with heart-shaped cavity outline—Category-VI

  
• Uterus didelphys


  There is complete lack of fusion of the Müllerian ducts with a double uterus, double cervix and a double vagina—Category III

  
• Uterus bicornis


  There is varying degrees of fusion failure of the muscle walls of the two ducts
• Uterus bicornis bicollis


  There are two uterine cavities with double cervix with or without vaginal septum
• Uterus bicornis unicollis


  There are two uterine cavities with one cervix. The horns may be equal or one horn may be rudimentary and may have no communication with the developed horn—Category IV
• Septate uterus


  The two Müllerian ducts are fused together but there is persistence of septum in between the two either partially (subseptate) or completely—Category V
• Uterus unicornis


  Failure of development of one Müllerian duct—Category II
• DES-related abnormality


  Not seen these days—Category VII
• Symptoms


  • Amenorrhea due to uterine hypoplasia/aplasia or obstructive anomaly
  • Infertility and dyspareunia often related in association with vaginal septum
  • Dysmenorrhea, cyclic or noncyclic pain in bicornuate uterus or due to cryptomenorrhea (pent up menstrual blood in rudimentary horn)
  • Menstrual disorders: Hematometra retrograde menstruation, crypto menorrhea and endometriosis or menorrhagia
  • Midtrimester miscarriage which may be recurrent
  • Rudimentary horn pregnancy may occur due to transperitoneal migration of sperm or ovum from the opposite side
  • Cervical incompetence
  • Increased incidence of malpresentation—transverse lie in arcuate or subseptate, breech in bicornuate, unicornuate or complete septate uterus
  • Preterm labor, fetal growth restriction, IUD
  • Prolonged labor—due to incoordinate uterine action
  • Obstructed labor—obstruction by the nongravid horn of the bicornuate uterus or rudimentary horn
  • Increased cesarean delivery
  • Uterine horn pregnancy may end up with rupture uterus causing an emergency
  • Retained placenta and postpartum hemorrhage where the placenta is implanted over the uterine septum

  
• Internal examination reveals septate vagina and two cervices. Passage of a sound can diagnose two separate cavities

  
• For exact diagnosis of the malformation, internal as well as external architecture of the uterus must be visualized