Handbook of Genetic Counseling/Turner Syndrome

Turner Syndrome

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

Incidence

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

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

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

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

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

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

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

http://www.turnersyndrome.org/ (website for the Turner's Syndrome Society of the U.S.)

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.

The information in this outline was last updated in 2001.