Pediatria pre prax 2/2026
Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital malformation of the female reproductive tract characterized by aplasia or hypoplasia of the uterus and upper vagina, with a normal 46,XX karyotype, preserved ovarian function, and normal development of secondary sexual characteristics. It is most commonly diagnosed during adolescence due to primary amenorrhea. The embryological basis is a developmental defect of the Müllerian ducts, with a multifactorial etiology involving genetic and epigenetic factors. Two clinical forms are distinguished: type I (isolated form) and type II (complex form), which is associated with extragenital anomalies, most commonly renal and skeletal malformations. Diagnosis is based on clinical presentation, gynecological examination, ultrasound, and pelvic magnetic resonance imaging, supplemented by karyotype analysis. Management is multidisciplinary and includes psychological support and creation of a functional vagina, with non-surgical dilatation therapy as the first-line approach. Patients have preserved ovarian function but suffer from absolute uterine infertility. Uterine transplantation represents a promising reproductive option enabling both genetic and gestational motherhood, although it remains a highly specialized procedure.
Keywords: MRKH syndrome, Mayer-Rokitansky-Küster-Hauser syndrome, primary amenorrhea, uterine aplasia, vaginal aplasia, Müllerian ducts, uterine transplantation
