- No Uterus

- Right falopian tube

difficult to evaluate
- Left Falopian tube &
ovarium present
 Development of
reproductive system
 MRKH
Mayer-Rokitansky-Küster-Hauser Syndrome
Clinical Gynecologic Endocrinology And Infertility 8th ed
Chapter 9; pg 364
46,XX Disorders of Sexual Development

• Disorders of gonadal (ovarian) development

- Ovotesticular disorder of sexual development (true hermaphroditism)
- Testicular disorder of sexual development (46,XX male sex reversal)
- Gonadal dysgenesis
• Androgen excess—Fetal origin (congenital adrenal hyperplasia)
- 11b-Hydroxylase (P450c11b) deficiency
- 21-Hydroxylase (P450c21) deficiency
- 3b-Hydroxysteroid dehydrogenase deficiency
• Androgen excess—Fetoplacental origin
- Aromatase (P450arom) deficiency
- P450 oxidoreductase deficiency
• Androgen excess—Maternal origin (gestational hyperandrogenism)
- Drug ingestion
- Excess androgen production
- Pregnancy luteoma
- Theca-lutein cysts
• Other disorders of genital development
- Müllerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome)
- Cloacal extrophy
- Müllerian, renal, and cervicothoracic somite dysplasia (MURCS
association)
Müllerian Agenesis (Mayer-Rokitansky-Küster-Hauser Syndrome)
• disorder of genital development characterized by absence of the vagina, an absent or
hypoplastic uterus, and normal or hypoplastic fallopian tubes
• The cause is unknown, although some cases are associated with chromosomal
translocations or occur in familial aggregates, suggesting a genetic basis
• ovaries are entirely normal, although one or both also may be undescended, hypoplastic,
or associated with an inguinal hernia
• often also have
• urologic anomalies (unilateral renal agenesis, ectopic or horseshoe kidney, and
duplication of the collecting systems)
• skeletal malformations (hemiverterbrae and scoliosis, or the Klippel-Feil syndrome)
Müllerian Agenesis (Mayer-Rokitansky-Küster-Hauser Syndrome)
• Theory  activating mutation in the gene encoding AMH or its receptor, causing excess
AMH activity
• Present in late adolescence or as young adults with primary amenorrhea, exhibiting
normal breast and pubic hair development and no visible vagina
• A few may have functional islands of endometrium, resulting in obstructed menses and
symptoms of cyclic pain
• evaluation : karyotype, renal ultrasonography, spinal X-rays, and pelvic ultrasonography
or MRI when there is reason to suspect a functional uterine remnant
 MRKH
Mayer-Rokitansky-Küster-Hauser Syndrome

LITERATURE REVIEW
Patnaik, S.S., et al., Mayer–Rokitansky–Küster–Hauser
(MRKH) syndrome: A historical perspective, Gene (2014)
• Most common form of vaginal agenesis, characterized by congenital absence of the
uterus and vagina.
• MRKH syndrome is found at birth in females 1:4000–1:10,000
• Embryological evidence shows that MRKH syndrome occurs due to the failure of
Müllerian ducts development, which in turn leads to a poorly developed vagina, cervix,
uterus or even an absence of either organ

Patnaik, S.S., et al., Mayer–Rokitansky–Küster–Hauser

(MRKH) syndrome: A historical perspective, Gene (2014)
TERIMAKASIH