# 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.)

## References

* 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.

## Notes

The information in this outline was last updated in 2001.