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.
http://www.emedicine.com/ped/topic2087.htm#targetA
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.
References:
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
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