Handbook of Genetic Counseling/Turner Syndrome

Turner Syndrome

(Ullrich-Turner syndrome or Bonnevie-Ullrich-Turner syndome)

IncidenceEdit

  • 1/2,500 - 1/5,000 liveborn females based on screening newborn pop.
  • perhaps 1% -2% all conceptions (occurs more often in preg. losses)
  • 95-99% miscarried most in 1st trimester
  • usually sporadic not associated with AMA
  • recurrence risk not increased for subsequent pregnancies

PrognosisEdit

  • Prematurity more common in preg. with Turner
  • mean birth weight in full term between 25-50 %ile
  • mean length in 5%ile of normal female
  • by 18 mths most growing at or below 3%ile height
  • Most consider standard of care to treat with growth hormone (although not deficient) differences in height appear to be a few centimeters (some studies not confirm this)
  • most adults adjust to petite stature
  • Feeding problems common including freq. spitting, vomiting and difficulty sucking and latching on also can have gastroesophageal reflux and failure to thrive
  • Obesity can be problem in later childhood and adult (excess calorie intake decrease expenditure -- short girls less likely to physical activity not intrinsic metabolic abnormality

Treatment/screeningEdit

  • encourage physical activity
  • educate about nutrition
  • hormone replacement (family informed decision appears safe, but not much long-term data) begin at age 4
  • treat age appropriately not according to height
  • annual echo recommended
  • begin at years thyroid function screening every other year and yearly in adults
  • periodic urinalysis for glucose
  • ovarian hormone therapy initiated at about 14 years
  • eye exam in infancy and refer at any time if concerns

Life expectancyEdit

  • one population 156 with Turner's found 5 fold increase (15 deaths) in death rate over expected and 3 fold when congenital heart disease excluded
  • series of 500 liveborn patients, 25 died 10 due to complications of CHD.
  • Among 215 adults 5 cardiac, 2 accident, 1 malignant hyperthermia, 1 AML, 1 acute febrile syndrome, 3 old age

Physical FeaturesEdit

  • short stature
  • high arched palate
  • prominent ears
  • webbing of neck
  • low posterior hairline:trident configuration
  • increased carrying angle of arm
  • puffy hands and feet (lymphedema) may take months to several years to go away
  • hypoplastic nail beds
  • multiple pigmented nevi

Possible Health ConcernsEdit

  • frank gastroesophageal reflux and failure to thrive also noted
  • ear infections and sensorineural hearing loss is seen
  • structural renal malformations found in ~40%: horseshoe kidney, duplication of ureters
  • minority can have recurrent UTI and hydronephrosis
  • cardiac anomalies: estimated 17-45% coarctation of aorta, bicuspid aortic valve, hypoplastic left heart, VSD (risk of aortic dissection may be increased)
  • hypertension and mitral valve prolapse
  • streak gonads w/ absent oocytes, normal uterus but may be small
  • 90% require estrogen to initiate puberty and est. progest. to maintain menses
  • lack pubertal development and no onset of menses (97%)
  • infertility 99%
  • frequent dislocation of patella and knee pain common
  • Increased incidence of autoimmiune disorders
  • hypothyroidism common 15-30% of adults

Development and BehaviorEdit

  • Usually have ave IQ within normal range shifted to left 10-12 points, compared to sibs
  • ~10% have significant delays need special education and may need ongoing assistance in adult life with job or living
  • discrepancy between verbal and performance IQ (verbal usually normal performance 10-12 points lower)
  • visual spatial weaknesses: copy designs, memory visual patterns, left-right directions, math
  • some studies show increased anxiety in younger girls, social withdrawal and depression in older girls
  • Some girls may have hyperactivity, immature behavior, difficulty focussing
  • later to date, leave home, and marry than age-matched cohorts
  • surveys show: most well educated, most function in employment BUT problems with methodology

Reproductive optionsEdit

  • IVF with donor oocytes (has been successful) expensive not always covered by insurance > 230 pregnancies in 93 women (1995) risk of SA (if fertile higher risk of trisomy 21)
  • adoption

Possible psychosocial concernsEdit

  • difficulty having a child with multiple medical problems
  • balancing the care of two children can be difficult anyway without added concerns
  • disappointment at prospect of child not being able to have biological children

ResourcesEdit

ReferencesEdit

  • Health Supervision for Children With Turner Syndrome. American Academy of Pediatrics Policy statement. December, 1995, p 1166-1173
  • Sybert VP (2001). Turner Syndrome. Management of Genetic Syndromes. Editors Cassidy SB, Allanson JE. Wiley-Liss, Inc.

NotesEdit

The information in this outline was last updated in 2001.

Last modified on 24 April 2010, at 22:33