The Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndromeis associated with defects in Mullerian duct development.
Associated mutations: multiple, including deletion at 17q12 and WNT4 mutations
Karyotype: 46, XX
The patient shows development of secondary sexual characteristics but presents with primary amenorrhea.
Features:
(1) congenital aplasia of the uterus and upper part of the vagina (CAUV = congenital absence of the uterus and vagina; Mullerian aplasia)
(2) with or without ovarian defects
(3) with or without other congenital malformations
(3a) renal (unilateral renal agenesis, ectopia, hypoplasia, horseshoe, hydronephrosis, cystic)
(3b) skeleton (digits, vertebral, other)
(3c) middle ear
(3d) heart (truncus arteriosus, patient ductus arteriosus, mitral valve defects)
(4) mild facial dysmorphism
The presence of isolated defects of uterus and vagina may be termed Type I.
The presence of additional congenital anomalies may be termed Type II.
The term GRES (genital, renal, ear, skeletal) has been suggested for some patients with multiple anomalies. Another term is MURCS.
