Mayer-Rokitansky-Küster-Hauser syndrome: what paediatricians need to know

Key words: Mayer-Rokitansky-Küster-Hauser syndrome, Müllerian agenesis, Amenorrhea, Neovagina

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterised by variable aplasia of the uterus and the upper part of the vagina in women with a normal 46,XX karyotype and normal ovarian function. It may be isolated (type I) but it is more frequently associated with other congenital defects (type II), mainly renal and vertebral defects. Exact etiology remains unknown. Clinical presentation is primary amenorrhoea with normal development of secondary sexual characteristics and normal external genitalia. Ultrasound and MRI allow accurate identification of MRKHS. Diagnosis may be delayed even in cases with known renal or vertebral malformation and causes important psychological distress. The creation of a neovagina allows sexual intercourse; fertility is obviously compromised.