Handbook of Genetic Counseling/Turner Syndrome

Turner Syndrome

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

Incidence

 * 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

Prognosis

 * 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/screening

 * 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 expectancy

 * 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 Features

 * 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 Concerns

 * 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 Behavior

 * 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 options

 * 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 concerns

 * 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

Resources

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