RT Book, Section
A1 Bianchi, Diana W.
A1 Crombleholme, Timothy M.
A1 D'Alton, Mary E.
A1 Malone, Fergal D.
SR Print(0)
ID 1106402109
T1 45, X (Turner Syndrome)
T2 Fetology: Diagnosis and Management of the Fetal Patient, 2e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-144201-5
LK obgyn.mhmedical.com/content.aspx?aid=1106402109
RD 2024/04/19
AB Key  PointsMost  common  chromosomal  abnormality  that  occurs  in  females.  Only  1%of  conceptuses  with  Turner  syndrome  survive  to  term.Incidence  is  1  in  2500  female  livebirths.  No  association  with  advanced  maternal  age.Approximately  50%  of  cases  have  full  45,  X,  30%  to  40%  have  mosaicism,  and  10%  to  20%  have  a  structural  abnormality  of  one  X  chromosome.  Severity  of  clinical  phenotype  cannot  be  predicted  from  the  karyotype.Characteristic  sonographic  abnormalities  include  very  large  cystic  hygroma,  hydrops  fetalis,  short  femur,  coarctation  of  the  aorta,  hypoplastic  left  heart,  and  renal  anomalies.In  the  presence  of  lymphatic  or  cardiac  malformations,  delivery  should  occur  at  a  tertiary  center.Major  considerations  for  long-term  follow-up  include:  growth  hormone  treatment  for  short  stature,  estrogen  treatment  for  feminization  and  bone  health,  monitoring  for  cardiovascular  complications  such  as  aortic  dilatation  and  rupture,  severe  hypertension,  and  propensity  toward  autoimmune  disease.Intelligence  is  normal,  but  there  may  be  mild  learning  difficulties  related  to  visual-spatial  issues.Phenotype  may  differ  depending  upon  whether  the  maternal  or  paternal  X  is  retained.  In  ~75%  of  women  the  maternal  X  remains.