S.J. Kiruba PrasannaLecturerP.I.M.S

Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

or CAUV (Congenital Absence of the Uterus and

Vagina) MA (Müllerian Aplasia) GRES (Genital Renal Ear Syndrome).

Müllerian duct (blue) develops in females (middle image) and degenerates in males (bottom).

The Urogenital sinus and the Müllerian ducts. The two are conjoined at the Müllerian tubercle.

Müllerian ducts are present on the embryo of both sexes. Only in females do they develop into reproductive organs. They degenerate in males, but the adjoining Wolffian ducts develop into male reproductive organs.

The sex based differences in the contributions of the Müllerian ducts to reproductive organs is based on the presence & degree of Müllerian Inhibiting factor.

The MRKH syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.

1 in 4500 female births

Non-genetic or environmental factors such as gestational diabetes or thalidomide-like teratogens

Distant relatives Mothers of MRKH patients .

Type I (Isolated) or Rokitansky sequence

Type II or MURCS association (MÜllerian duct aplasia, Renal dysplasia and Cervical Somite anomalies)

• Primary amenorrhea in patients presenting with a normal female phenotype, normal 46, XX Karyotype

• Normal and functioning ovaries with no sign of androgen excess .

• External examination reveals completed puberty with normal secondary female sexual characteristics (pubic hair and breast development are Tanner stage 5)

• Normal external genitalia but the vagina is reduced to a more or less deep (2–7 cm) vaginal dimple.

ORGAN ASSOCIATED MALFORMATION

Upper Urinary Tract

Skeletal Abnormalities

Hearing impairment

Unilateral renal agenesis, ectopia of one or both kidneys, renal hypoplasia & horseshoe kidney and hydronephrosis

Scoliosis (20%), vertebral anomalies (asymmetric, fused or wedged vertebrae)

Auditory defects or deafness, conductive deafness due to middle ear malformations.

ORGAN ASSOCIATED MALFORMATION

Heart Malformations

Atrial Septal Defect, Conotruncal defects such as Pulmonary Valvular Stenosis or Tetralogy of Fallot

Transabdominal Ultrasonography - absence of the uterine structure between the bladder and the rectum.

Magnetic resonance imaging (MRI) - accurate evaluation of the uterine aplasia, as well as a clear visualization of the rudimentary horns and ovaries

Extreme anxiety and very high psychological distress

Patient and family centered counseling before and throughout treatment.

Neovagina – Term for surgery to either construct or reconstruct a vagina. Can be created when ready to start sexual activity and also when they are emotionally mature.

a. Creation of a new cavity and can be non surgical or surgical.

b. vaginal replacement with a pre-existing canal lined with a mucous membrane (a segment of bowel).

Vaginal dilators (Hegar candles), progressively increasing in length and diameter.

Dilators are placed on the perineal dimple for at least 20 minutes a day.

whole treatment takes six weeks and several months, with a success rate varying from 78%

Fig 1. Wax pattern fabricated measuring 2.5 x 1.5 cm

Fig 2. Finished prosthesis

Fig 3. Relined prosthesis

Fig 4. Final prosthesis

PATIENT PICTURE:Ms. XAge : 20 yrsEdu status: 12th stdSocioeconomic: Middle classFamily h/o: 2nd degree consagniousMenstrual h/o: Not attained menarcheMarital h/o: UnmarriedPresenting complaints: Primary amenorrhoea Diagnosis: MRKH (no uterus or ovaries)P/V: Blind vaginal pouch (0.5cm)

Pudendal flap: Pudendal thigh flaps are

fasciocutaneous flaps based on the posterior labial artery which is a branch of internal pudendal artery.

Removal of vaginal pack on the first postoperative day.

Early ambulation to avoid pulmonary and DVT complications.

Antibiotics (broad spectrum) Sitz baths followed by sulpha cream

instillation.

Sexual intercourse can be allowed after 3 months.

Enquire about monthly menstrual flow. Measurement of length and width of

vagina at each follow-up visit. The final vaginal length 1 year post

operatively can be measured by introducing a Hegar dilator.

The Abbe-McIndoe operation: Dissection of a space between the rectum and the bladder, placement of a mold covered with a skin graft into the space, and diligent postoperative vaginal dilatation

The Vecchietti operation: Mixture of surgical and nonsurgical methods. creation of a neovagina via dilatation with a traction device attached to the abdomen, sutures placed subperitoneally by laparotomy, and a plastic olive placed in the vaginal dimple.

Sigmoidal colpoplasty - Vaginal replacement or creation of a neovagina by grafting a 12–18 cm long segment of sigmoid.

Recent advances: In vitro fertilization of their own eggs and to use surrogate pregnancy

Nurses play an major role in identifying and treating this patients and their families.

Non judgemental attitude Referring and counseling patient and their

families Introducing them to the support groups Encourage the patient to have positive attitude

to their physical changes in the body. Genetic counseling

Thank you