Mayer-Rokitansky-Küster-Hauser syndrome

Definition

• Mayer-Rokitansky-Küster-Hauser syndrome is a congenital absence or underdevelopment of the uterus and upper vagina with a 46,XX karyotype, normal external genitalia and functioning ovaries.

Classification

• Type 1 affects only the reproductive organs; type 2 additionally involves anomalies such as unilateral renal agenesis or abnormal kidney position, vertebral anomalies, hearing loss or heart defects.
• Type 1 accounts for about 56–72% and type 2 for about 28–44% of cases.

Occurrence & epidemiology

Epidemiology

• About 1 in 4,500 to 5,000 female newborns are affected; the syndrome is found in about 16% of patients with primary amenorrhoea and is considered the second most common cause after ovarian insufficiency.

Aetiopathogenesis

Aetiology and pathogenesis

• The underlying defect is incomplete development of the Müllerian ducts, which give rise to the uterus, fallopian tubes, cervix and upper vagina; why this occurs is unknown.
• It usually occurs sporadically; some families show autosomal dominant inheritance, and genetic and environmental factors probably act together.

Clinical features

• The first sign is often primary amenorrhoea with normal breast and pubic hair development.
• A pregnancy cannot be carried.

Diagnosis

• Examination reveals a shortened, blind-ending vagina.
• On ultrasound the uterus is absent while the ovaries are present; MRI of the internal genitalia is considered the gold standard, and the karyotype is 46,XX.

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Further reading (selection)

1. MedlinePlus Genetics: Mayer-Rokitansky-Küster-Hauser syndrome (U.S. National Library of Medicine)
2. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update (Orphanet J Rare Dis 2020, PubMed Central)

Cross-references