622	30 Hydrocolpos, Vaginal Agenesis and Atresia

•Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

–Proximal vaginal atresia

–Distal vaginal atresia

30.5Associated Anomalies

•Vagina atresia and agenesis are congenital anomalies of the female genitourinary tract and may occur as:

•An isolated developmental defect

•Part of a complex of developmental anomalies such as:

–The Rokitansky-Mayer-Küster-Hauser (RMKH) syndrome

–The Bardet-Biedl syndrome

–The Kaufman-McKusick syndrome

–The Fraser syndrome

–The Winters syndrome.

•Renal anomalies:

–Occur in 30 % of patients with RMKH syndrome.

–These anomalies include:

•Unilateral agenesis of the kidney

•Ectopic kidneys

•Horseshoe kidney

•Crossed-fused renal ectopia

•Skeletal anomalies:

–Fused vertebrae

–Anomalies of the ribs and limbs

30.6Embryology

•Normally there are two pairs of ducts in the embryo, the wollfian and Mullerian ducts.

•These are responsible for the development of the male (Wollfian) and female (Mullerian) internal genitalia.

•In the female embryo:

–The absence of testes which secret testesterone and Mullerian inhibiting substance (MIS) allow development and differentiation of the müllerian duct system and regression of the wolffian ducts.

–The müllerian duct elongate and reaches the urogenital sinus by 9 weeks’ gestation, and form the uterovaginal canal.

–The two müllerian ducts proceed caudad to cephalad and fuse together to form the uterine cavity and upper two thirds of the vagina.

–The fallopian tubes are formed from the cephalic remnants of the müllerian duct.

–The sinovaginal bulbs form as bilateral endodermal invaginations.

–Cephalic growth of the sinovaginal bulb and their fusion with the vaginal cord forms the vaginal plate.

–Canalization of the uterovaginal canal is believed to occur from the caudal to the cephalic aspect, with an epithelial lining derived from the urogenital sinus.

– Vaginal development is completed by 5 months’ gestation and their musculature is derived from surrounding mesenchyme.

–The vagina is embryologically derived from both the müllerian ducts and the urogenital sinus.

–It is postulated that the upper two thirds of the vagina are derived from the mullerian ducts and the lower third is derived from the urogenital sinus.

•Failure of this normal development at any stage can lead to genital abnormalites:

–Persistent Mullerian duct syndrome: This is seen in male children as a result of failure of secretion of MIS or failure of the receptors to respond to MIS. It is characterized by the presence of a uterus, upper part of vagina and fallopian tubes in a phenotypically and genetically normal male.

–A septate uterus: This results from failure of the septum between the two mullerian ducts to regress.

–Arcuate, bicornuate, or didelphic uteri: These result from incomplete fusion of the müllerian ducts.

–Uterovaginal atresia: This results from failure of the caudal development of the müllerian ducts.

–A transverse vaginal septum: This results from failures at the level of the vaginal plate.

–Vaginal atresia: This occurs when the caudal portion of the vagina, contributed by the urogenital sinus, fails to form. This cau-

30.7 Clinical Features	623

dal portion of the vagina is replaced with fibrous tissue.

–Lower vaginal atresia is a type of vagina atresia where the lower 3rd of the vagina fails to develop.

–It is usually not considered a type of Mullerian duct anomaly. It occurs from a failure of recanalisation of the urogenital sinus.

–Patients with RMKH syndrome and vaginal atresia are phenotypically and genotypically female with a 46, XX karyotype. However, a familial association suggests autosomal dominant transmission of a mutant gene by male relatives.

–Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as Müllerian aplasia with vaginal agenesis and uterine remnants.

–It is commonly associated with renal and sometimes vertebral anomalies. The MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations.

30.7Clinical Features

Fig. 30.5 A clinical photograph showing a newborn with abdominal mass secondary to hydrometrocolpos

•The clinical presentation of vaginal atresia is variable.

•The majority of neonates with vaginal atresia are asymptomatic but they my present with:

–An abdominal mass (Figs. 30.5 and 30.6):

•This is secondary to hydrocolpos or hydrometrocolpos.

•It may be discovered during routine antenatal ultrasound

•This may be discovered clinically immediately after delivery or during the first few weeks of life.

–Sepsis

–Respiratory distress.

•Vaginal atresia may remain asymptomatic till adolescence and the presentation may include:

–Amenorrhea

–Cyclical abdominal pain

–Difficulty in voiding

–An abdominopelvic mass

–Backache

•The presence of polydactly and congenital heart disease is suggestive of an associated

Fig. 30.6 A clinical photograph showing a newborn with abdominal mass secondary to hydrometrocolpos. The mass is arising from the pelvis upwards

syndrome (McKusick-Kaufman syndrome, Bardet-Biedl syndrome). The polydactly can affect either lower and upper limbs or only one limb (Figs. 30.7, 30.8, 30.9, and 30.10).

•Perineal examination may reveal:

–Normal external genitalia

–No apparent vaginal orifice and no hymen

–Development of secondary sex characteristics in the adolescent.

–An isolated vaginal dimple or a small vaginal pouch with a normal hymenal ring may be seen.

–Abnormal anal opening (Figs. 30.11 and 30.12)

–Labial fusion may obscure the anatomy of some patients and be confused with vaginal atresia.

–The presence of posterior labial fusion and enlarged clitoris is suggestive of congenital adrenal hyperplasia.

624	30 Hydrocolpos, Vaginal Agenesis and Atresia

Figs. 30.7, 30.8, 30.9, and 30.10 Clinical photographs showing polydactly both upper and lower limbs

Figs. 30.11 and 30.12 Clinical photographs showing a newborn with vaginal atresia. Note the absence of a vaginal opening. Note also the anteriorly placed anus in the first picture

30.8 Investigations	625

•McKusick-Kaufman syndrome:

–This is an autosomal recessive disorder.

–It is characterized by:

•Hydrometrocolpos secondary to vaginal atresia.

•Postaxial polydactyly

•Imperforated anus

•Congenital heart defects.

•Bardet-Biedl syndrome:

–This is an autosomal recessive disorders.

–It is characterized by:

•Vaginal atresia

•Retinal dystrophy or retinitis pigmentosa

•Postaxial polydactyly

•Obesity

•Nephropathy

•Mental disturbances

•Fraser syndrome:

–Fraser syndrome (also known as MeyerSchwickerath’s syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder.

–It is characterized by:

•Cryptophthalmos (where the eyelids fail to separate in each eye)

•Vaginal atresia

•Other malformations of the genitalia including micropenis, and cryptorchidism in males and clitoromegaly in females.

•Congenital malformations of the nose, ears, larynx and renal system.

•Mental retardation

•Syndactly

•Winters syndrome:

–It is characterized by ear anomalies and vaginal atresia.

30.8Investigations

•In newborns, it is important to define preoperatively the anatomic abnormality leading to the hydrometrocolpos.

•Whereas imperforate hymen is clinically evident and simple to treat, vaginal atresia is more complex to define and manage.

•Abdominal radiograph (Figs. 30.13 and 30.14):

–This may reveal a soft tissue density pushing the bowel to the side and upwards.

Figs. 30.13 and 30.14 Abdominal x-rays showing a soft tissue mass representing the dilated vagina and pushing the bowel upwards

626	30 Hydrocolpos, Vaginal Agenesis and Atresia

Fig. 30.15 Abdominal ultrasound showing a dilated vagina (hydrocolpos) secondary to vaginal atresia

Figs. 30.17 and 30.18 Abdominal CT-scan showing hydrometrocolpos secondary to vaginal atresia

DILATED

UTERUS

DILATED

VAGINA

Fig. 30.16 Abdominal CT-scan showing a very large hydrocolpos

DILATED

UTERUS

DILATED

VAGINA

• Abdominal and pelvic ultrasonography	– The presence of hydrocolpos or hydrometro-
(Fig. 30.15):	colpos can be detected easily with ultrasound.
– This is a simple, non-invasive investigation	– It is also useful to evaluate the kidneys, ureter
for patients with suspected vaginal atresia.	and urinary bladder and associated anomalies.
– It is valuable to define the ovaries, uterus,	• Abdominal and pelvic CT-scan (Figs. 30.16,
and proximal vagina.	30.17, 30.18, 30.19, and 30.20):

30.8 Investigations	627

Figs. 30.19 and 30.20 Abdominal CT-scan showing hydronephrosis secondary to pressure from the dilated vagina

Fig. 30.21 Intravenous urography showing dilated ureters and hydronephrosis secondary to pressure from hydrometrocolpos

–This gives more detailed information regarding the anatomy and etiology.

•Intravenous urography is rarely used (Fig. 30.21).

•MRI (Figs. 30.22, 30.23, and 30.24):

–This has been reported to be more valuable than ultrasound and CT-scan in delineating the vaginal anatomical defect and the associated hydroureter and hydronephrosis.

•Genitography is an unnecessary invasive investigation that may be harmful leading to secondary infection with subsequent pyometrocolpos (Figs. 30.25 and 30.26).

•This must be kept in mind when evaluating hydrometrocolpos as there is a possibility of secondary infection and development of pyometrocolpos which is a serious complication.

•Laparoscopy may be necessary to evaluate the

uterus and adnexal structures if they are not Fig. 30.22 Abdominal MRI showing a very large

clearly identified on ultrasound, CT-scan or MRI. hydrocolpos