RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164078008
T1 Mayer-von Rokitansky-Kuster-Hauser Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164078008
RD 2022/08/16
AB It  is  a  syndrome  characterized  by  congenital  absence  of  vagina,  rudimentary  cornua  uteri,  and  morphologically  normal  ovaries  and  fallopian  tubes  situated  on  the  pelvic  sidewall.  Clinically,  young  women  present  primary  amenorrhea  with  otherwise  normal  secondary  sexual  development,  normal  external  genitalia,  normal  functional  ovaries,  and  a  karyotype  46XX  without  visible  chromosomal  anomaly.  They  are  infertile.  Other  features  include  unilateral  renal  agenesis,  ectopia  of  kidneys  or  horseshoe  kidney,  skeletal  anomalies  (particularly  Klippel-Feil  appearance),  hearing  defects,  and  more  rarely  cardiac  as  well  as  syndactyly  and  polydactyly.