RT Book, Section
A1 Bondy, Carolyn A.
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102706966
T1 Turner Syndrome
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102706966
RD 2024/04/19
AB Disease  summary:Caused  by  complete  or  partial  loss  of  the  second  sex  chromosome  (45,X  karyotype).The  great  majority  of  45,X  gestations  end  in  fetal  demise  by  end  of  first  trimester.Approximately  1/2500  live  born  females  have  Turner  syndrome  (TS).Extreme  short  stature  may  be  prevented  by  growth  hormone  RX  during  childhood.Secondary  sexual  development  and  normal  sexual  functioning  are  achieved  with  estrogen  replacement  treatment.The  other  features  if  diagnosed  and  remedied  in  a  timely  manner  need  not  impair  longevity  or  quality  of  life.Hereditary  basis:TS  is  a  sporadic  disorder  occurring  due  to  nondisjunction  or  fragmentation  of  sex  chromosomes  during  gametogenesis  or  early  embryonic  development.Differential  diagnosisNoonan  syndrome—the  physical  phenotype  may  mimic  TS,  with  short  stature  and  residual  evidence  fetal  lymphedema  (eg,  neck  webbing)  and  congenital  heart  disease  (CHD).  The  karyotype  of  this  autosomal  dominant  syndrome  is  normal,  however.Idiopathic  short  stature  with  constitutional  delay  of  puberty—the  karyotype  in  these  children  is  also  normal.