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.