Turner Syndrome

Few bullets about Turner:

Clinical features: short stature, ptosis, lymphedema (can last for months or longer and may recur), webbed neck, low posterior hairline (also in Trisomy 13-Patau), cubitus valgus, widely spaced nipples (shield chest). Note: often not accompanied by these distinctive features (therefore, must keep it in mind incases of short stature, delayed puberty, amennorhea, infertility)

Health Supervision

In general:
- growth hormone therapy
- hearing screens, TFTs starting age 4 then annually.
- cardiology eval with periodic f/u echo; endo consult
- renal U/S

Birth-1 month:
- karyotype
- evaluate hips for DDH
- review newborn hearing screen
- cardiology consult (even if baby had "normal" prenatal ultrasound)
- renal ultrasound (even if done prenatally)
- endocrine consult
- (vs Down, CBC at birth and starting age 13, annually)

1 month-1 year
- weight, BP and peripheral pulses
- ophtho eval: refer to opthalmologist as soon as strabismus is suspected
- check for otitis media or serous otitis and evaluate hearing
- SBE prophylaxis if cardiac anomaly is present
- counsel parents regarding environmental factors that may increase risk of otitis media
- (vs Down's: TFT's are started earlier, done at 6 mos, 12 mos, then annually)

1 year- 5 years
- follow growth (plot on Turner-specific growth curve) - refer to endocrine if growth failure occurs for possibility of GH therapy (calculate target height for parents according to percentile, then use this percentile on the Turner chart)
- evaluate speech
- follow up with cardiologist if anomaly present
- check BP and peripheral pulses each visit
- evaluate hearing
- starting at 4 y.o (unless clinically indicated), check free T4 and TSH
- ( a Down's patient would need a C-spine XR at 3-5 yrs)

Q1-2 years
- evaluate for possible development delay and learning difficulties
- if HTN present, tx aggressively, and search for cardiovascular or renal causes
- counsel parents regarding environmental factors that may increase risk of otitis media

5 years- 13years
- discuss the Dx and Tx of Turner syndrome with the child as soon as she is able to understand
- follow growth (plot on Turner-specific growth curve)- refer to endocrine if growth failure occurs for possibility of GH therapy
- check BP and peripheral pulses each visit
- evaluate hearing
- check dentition for malocclusion
- free T4 and TSH Q1-2 years
- check for scoliosis
- watch for potential school problems
- discuss adjustment to short stature
-  if HTN present, tx aggressively, and search for cardiovascular or renal causes
- counsel family regarding importance of optimizing bone density (receive recommended daily requirement of Vit D ansd Ca through diet and supplementation)

13 years - adulthood
- evaluate for pigmented nevi
- check BP and peripheral pulses
- measure fasting lipid profile at least once
- evaluate hearing
- check for scoliosis
- refer to cardiologist (even with normal initial cardiology eval)- close eval of aortic root
- free T4 and TSH Q1-2 years
- evaluate for development of secondary sex characteristics
- refer to endocrinology for eval for sex hormone replacement (lymphedema may be exacerbated by estrogen therapy)
- ( in Down's: CBC's and TFT's annually)

This is not complete (although extensive).  The complete report on the health supervision for children with Turner Syndrome can be found on the AAP website.

Noonan vs Turner Syndrome

Chief Resident Pearl 2004.
CHLA Board Review Course 2005.

The following from Prep questions 2002

Perform renal and cardiac ultrasounds in all patients with Ullrich-Turner syndrome. The most commonly associated anomalies are horseshoe kidney and bicuspid aortic valve. Perform hearing tests in all patients with Ullrich-Turner syndrome.

Legal considerations:
Patients with mosaic Ullrich-Turner syndrome grow significantly better than girls with classic Ullrich-Turner syndrome. The patient with mosaic syndrome may grow above the third percentile of the normal female population, thereby escaping the clinician's notice (See a growth chart for Turner syndrome. Note that the upper limit overlaps the range for girls of normal height). In particular, girls with mosaic Ullrich-Turner syndrome may not come to attention until puberty, when they can present with primary amenorrhea. Despite near normal growth rate during childhood, the final adult height of a patient with mosaic TS may be lower than the third percentile of the normal population. Because girls may not have any stigmata of Ullrich-Turner syndrome, the clinician should have a high index of suspicion for this disorder in any girl with unexplained short stature, webbed neck, peripheral edema, coarctation of the aorta, delayed puberty, or any 2 of the following: nail dysplasia, high arched palate, short fourth metacarpal, or strabismus.


Turner syndrome: heart defects/murmurs

Because the classic dysmorphic features (shield chest, webbed neck, increasing carrying angle at the elbows) of Turner syndrome may be subtle or even absent, this syndrome may not be diagnosed until adolescence in many patients. The presenting complaint in this age group often is short stature or primary amenorrhea. 

As neonates, girls who have Turner syndrome may present with lymphedema of the dorsal feet or hands. When this is bilateral, Turner syndrome often is considered and diagnosed. However, this impressive edema occasionally may be confined to one distal extremity and mistakenly attributed to the tourniquet effect of an intrauterine band rather than to the systemic abnormality of lymphatic drainage that occurs in Turner syndrome.

At whatever age Turner syndrome is diagnosed, it is important to be aware of its association with aortic disease, particularly coarctation of the aorta. Bicuspid aortic valve with valvular stenosis or regurgitation also may be seen, but careful physical examination for the signs of coarctation is most important. This includes palpation of both radial and brachial pulses and measurement of blood pressure in both arms. The femoral pulses should be palpated simultaneous with the right brachial pulse (if the two arms have equal blood pressures) to ensure that the femoral pulse upstroke is as brisk as the brachial and that there is no delay in the femoral upstroke. The American Academy of Pediatrics Policy Statement on "Health Supervision of Children with Turner Syndrome" recommends echocardiographic follow-up of affected children to observe for aortic dilatation. Some controversy surrounds the likelihood of significant aortic complications developing in those who have Turner syndrome, although there are reports of aortic dissection during pregnancy (after in vitro fertilization with ovum donor embryo).

The auscultatory findings of coarctation may be subtle. There may be a slightly harsh but not loud murmur audible to the left of the spine over the back near the left scapular edge. It often extends throughout systole and past the second heart sound into early diastole. Traditionally, this continuous murmur is attributed to flow within enlarged intercostal arteries that are serving as collateral flow vessels in older patients who have coarctation. However, Doppler assessment of the descending aorta below aortic coarctation reveals a high-velocity jet through the coarctation that peaks during systole but continues during diastole. Therefore, although diastolic runoff in the distal descending thoracic aorta is increased because of arterial collaterals, the murmur of coarctation clearly originates in the descending aorta over which it is heard in the posterior hemithorax.

In patients who have Turner syndrome, auscultation at the cardiac apex may reveal what sounds like a widely split first heart sound. In fact, this is the first heart sound followed by an aortic ejection click, a finding indicative of a bicuspid aortic valve with dilatation of the ascending aorta. Fixed splitting or fixed wide splitting of the second heart sound is the hallmark auscultatory finding of significant atrial septal defects, not aortic disease.

Isolated dextrocardia without situs inversus totalis usually is associated with complex cardiac anomalies, such as in the heterotaxia  syndromes (asplenia and polysplenia). Mirror image dextrocardia with situs inversus totalis generally is not accompanied by important congenital heart disease. Some cases are associated with respiratory ciliary dysfunction that results in respiratory infections, wheezing, and bronchiectasis (Kartagener syndrome). A loud single second heart sound is found in severe pulmonary hypertension. Elevation of pulmonary vascular resistance causes delay of the pulmonic closure sound, which then summates with the aortic closure sound. None of these conditions is associated with Turner syndrome.

The low-pitched diastolic apical murmur of mitral stenosis is rare in North America where serious rheumatic heart disease is uncommon. The presence of an opening snap early in diastole distinguishes true mitral valve stenosis from  the diastolic filling "rumble" often heard in infants who have large ventricular septal defects that result in excessive flow across a normal mitral valve produced by the abnormally high pulmonary blood flow. Neither of these conditions is likely in Turner syndrome.

American Academy of Pediatrics Committee on Genetics. Health
supervision for children with Turner syndrome. Pediatrics.
1995;96:1166-1173 (Available at: http://www.aap.org/policy/01149.html)
Saenger P. Turner's syndrome. N Engl J Med. 1996;335:1749-1754
Vockrodt L, Williams JK. A reproductive option for women with Turner's
syndrome. J Pediatr Nurs. 1994;9:321-325