• Caused by a genetic error/ teratogenic events

• Many are asymptomatic

• May present at varying times
• Incidence rate 1-3 %
 AMBIGOUS GENITALIA
• A range of abnormalities can be identified
• Occurs in a wide spectrum
• Labioscrotal fusion
• Enlarged clitoris with a penile urethra
• Urogenital sinus
• Clitoralmegaly
• Normal introitus
• Initial evaluation: Karyotyping, Transabdonimal ultrasound, serum electrolytes & steroid
hormone levels
PERINEAL AND HYMENAL ANOMALIES
 CLITORAL ANOMALY
• Usually unusual
• May be enlarged because of androgen stimulation
• Extreme cases of androgen stimulation  labial fusion
• Occurs in infants with CAH & those exposed in utero or
exo/endogenous androgens
• Under developed male external genitalia and a small phallus appears
as clitoral hypertrophy
• Bifid clitoris usually seen in association with bladder extrophy
• Anterior rotation & shortening of vagina with labial fusion
 LABIAL FUSION
• May occur without clitoralmegaly
• May result from exposure to exogenous androgens
• May be associated with defects of the abdominal wall
 CONGENITAL ADRENAL HYPERPLASIA
• Most common form is caused by an inborn error of metabolism (21
hydroxylase enzyme deficiency)
• Less common enzyme defects: (1) 11-hydroxylase deficiency; (2) 3
beta hydroxysteroid dehydrogenase deficiency
• May cause ambiguous genitalia with masculinized females
• May present at birth or later in childhood
• May result in adrenal crisis  sodium loss due to lack of
aldosterone production
• Milder presentation: premature closure of premature secondary
sexual characteristics (male); further virilization (females)
• Treatment: cortisol replacement
HYMENAL ANOMALIES
• The hymen is initially a solid membrane of tissue,
and the central cells of the membrane typically
dissolve during late fetal development to establish
a connection between the lumen of the vaginal
canal and the vestibule. If this perforation does
not take place, the hymen is imperforate
• The incidence of an imperforate hymen: 1 in 1000
live-born females
• Occasionally, a hydrocolpos or mucocolpos may
occur in neonates or infants
• may experience cyclic cramping but no menstrual
flow.
 HYMENAL ANOMALIES
• commonly diagnosed after puberty
• primary amenorrhea
• hematocolpos
• Hematometra
• pelvic pain
• urinary retention
• difficulty with bowel movements
• Diagnosis: history and physical examination
• a bulging membrane with a bluish hue is appreciated at the
introitus
• vaginal mass is palpable on rectal exam.
• Treatment: Surgical intervention to relieve the obstruction
 MULLERIAN ANOMALIES
• otherwise known as congenital anomalies of the female reproductive tract
• occur due to defects in development of the müllerian ducts, which are the embryologic
origin of the fallopian tubes, uterus, cervix, and a portion of the vagina
 EMBRYOLOGY
• Between the third and fifth weeks of embryologic development, both the wolffian
(mesonephric) and müllerian (paramesonephric) ducts are present
• The müllerian ducts form from clefts between the mesonephros and the developing gonad.
The paired wolffian ducts connect the embryologic kidney (mesonephros) to the cloaca
between 5 and 10 weeks of gestation; development of the functional kidney (metanephros) is
stimulated by an outgrowth of the wolffian duct, the ureteric bud. The fate of these various
embryonic elements is closely entwined; an insult to or abnormal development of one
embryonic element usually affects the others.
• subsequent steps of development: elongation, fusion, canalization, and septal resorption
• elongate caudally and eventually fuse in the midline as they descend into the pelvis, reaching
the urogenital sinus at an elevation known as the müllerian tubercle
• There aretwo solid tubes of tissue that are fused medially; this occurs by 10 weeks of gestation
• central absorption of the cells occurs, leading to two hollow tubes of tissue that remain fused
medially
• midline septum between the two tubes of tissue undergoes resorption, and this process
commonly occurs in a caudal to cephalad direction, leading to a midline unified structure
• The inferior portion becomes the upper vagina, followed by the cervix and uterus
• cephalad unfused portion of the ducts develops into the fallopian tubes
• Vagina develops from both müllerian duct tissue and the urogenital sinus
• Once the urogenital sinus is reached at approximately 10 weeks of gestation, cells proliferate
from the upper portion of the urogenital sinus to form solid aggregates known as the
sinovaginal bulbs
• These cell masses develop into a cord, the vaginal plate, which extends from the müllerian
ducts to the urogenital sinus. This plate canalizes, starting at the hymen, which is where the
sinovaginal bulb attaches to the urogenital sinus, and proceeding cranially to the developing
cervix, which has by this time already canalized
• completed by 20 weeks of gestation
 ANOMALIES OF MULLERIAN DUCT
DEVELOPMENT
• commonly classified into three categories:
• agenesis and hypoplasia
• occur for a portion of or an entire müllerian duct, or for both ducts
• lateral fusion defects
• Most common
• originate due to failure of migration of one or both ducts, midline fusion of the ducts, or absorption of
the midline septum between the ducts
• vertical fusion defects
• occur due to disordered fusion of the müllerian ducts with the urogenital sinus or abnormal vaginal
canalization
• may present with menstrual flow obstruction
 VAGINAL AGENESIS
• also known as müllerian agenesis or müllerian aplasia or Mayer-Rokitansky-KüsterHauser (MRKH)
syndrome
• occurs due to failure of müllerian duct development or marked aberrations in the typical steps of
müllerian development
• characterized by congenital absence of the vagina and variable development of the uterus
• Incidenced: approximately 1 in 5000 females.
• have normal pubertal development, normal ovarian function, and a 46,XX karyotype
• commonly present with primary amenorrhea at 15 to 16 years of age
• Physical exam
• absence of a vaginal opening or presence of a short vaginal pouch or inability to palpate uterus on rectal exam
• etiology unknown
 VAGINAL AGENESIS
• Complete vaginal agenesis (75%)
• short vaginal pouch (25%)
• may have rudimentary uterine horns and can have myomas or adenomyosis in the
rudimentary myometrium
• If the uterine horns contain some endometrium with an epithelial lining, called functional
rudimentary horns
• Can have concurrent GUT anomalies
• renal agenesis, pelvic kidney, multicystic dysplastic kidney, and ureteral duplication
• Can have cardiac defects & hearing loss
 VAGINAL AGENESIS
• MRI can confirm diagnosis
• Surgical intervention with laparoscopy isn’t necessary
• Treatment: creation of a neovagina for future sexual function
• Non-surgical: Use of vaginal dilators
• Surgical: to develop the potential space between the bladder and the rectum and insert into this
space a new tissue that will develop into a vagin
• Inform patient that achieving motherhood is possible using her own eggs and a gestational
carrier, or through adoption
•
 TRANSVERSE VAGINAL SEPTUM
• Occurs due partial canalization of the vaginal plate,
leaving a band of tissue across the vagina
• partial (perforate) or complete
• most commonly lies at the junction between the upper
third and lower two thirds of the vagina
• presents with primary amenorrhea and reports cyclic
cramping and worsening pelvic pain
• May lead to hematocolpos and hematometrium
• Often less than 1 cm thick
• Treatment: excision
 VAGINAL ADENOSIS
• Junction between Mullerian ducts & sinovaginal bulb may not be sharply demonstrated
• If mullerian elements invade sinovaginal bulb; remanants may remain as areas of adenosis
• Palpated submucosally
ABNORMALITIES OF THE CERVIX
• Can occur along with uterine & vaginal anomaly
• Can occur in isolation
• Cervical duplication/ agenesis can occur if
• Occurs if one/ both of the Mullerian ducts don’t fuse, don’t develop or develop incompletely
• Can result in 2 separate & distinct cervices or 2 fused in the midline
• Often present with obstructed menstrual flow with associated cyclic/ chronic pain and
hematometra
• Septate uterus
• can occur when midline septum within cervix doesn’t resorb
• Don’t typically obstruct menstrual flow
ABNORMALITIES OF THE UTERUS
• Categorized as lateral fusion defects
• Occurs due to disordered duct fusion & septal resorption
CLASSIFICATION
 IMAGING
• MRI – gold standard of diagnosis
• 3D ultrasound- beneficial & equivalent in certain circumstances
• 2D ultrasound- unable to determine uterine external contour
 SIGNS & SYMPTOMS
• Usually ASYMPTOMATIC
• Uterine agenesis Primary amenorrhea
• Obstructive anomaly
• Pelvic pain (cyclic/ non cyclic) & dysmenorrhea
• Hematometra
• Retrograde menstruation
• endometriosis
• Septate uterus
• Abnormal bleeding
 SIGNS & SYMPTOMS
• Endometriosis- common in Mullerian anomalies
• Abnormal bleeding- uterine anomalies, associated with septate uteri
• Longitudinal vaginal septum- associated with septate, didelphys & bicornuate uteri
• Difficult tampon insertion
• Bleeding around one tampon
• dyspareunia
 SIGNS & SYMPTOMS
• Higher rate of obstetric outcomes
• Recurrent pregnancy loss
• 1st & 2nd trimester pregnancy loss
• Intrauterine growth restriction
• Preterm labor & delivery
• Placental abruption
• Malpresentation (greater risk of CS)
• Intrauterine fetal demise
 SIGNS & SYMPTOMS
• Uterine dysfunction is thought to occur due to
• Diminished cavity size
• Impaired ability to distend
• Abnormal myometrial and cervical function
• Inadequate vascularity
• Abnormal endometrial development
• Cervical incompetence, pregnancy induced hypertension, antepartum & postpartum bleeding
• ** Uterine horn pregnancies  surgical emergency (89% rate of rupture)
 DIAGNOSIS
• History
• Physical examination
• Confirmed with pelvic imaging
• MRI- assess more complex Mullerian anomalies & simultaneously assess GUT
• Evaluation of GUT is indicated to identify and concomitant abnormalities

** most common anomaly  arcuate uterus/ septate uterus

 MANAGEMENT
• Surgical Intervention- indicated for those with obstructive anomalies with associated pelvic
pain, endometriosis & poor obstetric outcomes
• GOAL:
• Restoration of pelvic anatomy
• Preservation of fertility
• Treatment of pelvic pain & endometriosis
• Rule out extrauterine causes of obstetric issues
 MANAGEMENT
• Septate uterus – amenable to surgery
• Unicornuate uterus- never considered operable
• Excision of functional rudimentary uterine horn & attached fallopian tube is recommended
• To prevent horn/ tubal gestation
• To treat hematometra & pelvic pain
• Bicornuate & didelphys uteri-
• operable in select circumstances
• Abdominal metroplasty
• Cervical cerclage
 MANAGEMENT
• Hysteroscopic metroplasty
• To correct partial/ complete septate uterus
• Improve reproductive outcomes
• Indicated in women with RPL or 2nd trimester loss
• Live birth rates improve from 50 to 80%
• Miscarriage rates decrease from 45 to 15%
• Preferred surgical treatment
• Laparoscopy
• To assess the fundal contour and guide extent of septum resection
• Not mandatory
ABNORMALITIES OF THE OVARIES
 Accesory Ovary Supernumerary Ovary
• Excess ovarian tissue noted near a • A third ovary is separated from a normally
normally placed ovary & connected to it situated ovary
• 1 in 93000 • 1 in 29000
• May be found in the omentum or retroperitoneum
• Additional congenital defects noted, most frequently GUT abnormalities
 REFERENCES
• Comprehensive Gynecology 7th edition by Lobo, Gershenson et. Al.