Lectures by Ibnlatef

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Turner's syndrome
Turner's syndrome (45, X):
 Usually (>95%) this results in early miscarriage.
 In live-born females, the incidence is about 1 in 2500.
 Short stature may be the only clinical abnormality in children.
Clinical features:
 In the newborns:
o SGA.
o Webbing of the neck.
o Protruding malformed ears.
o Lymphedema of the hands and feet.
o Although many newborns are phenotypically normal.
 Older children and adults:
o Short stature - cardinal feature (SS may be the only clinical abnormality in children).
o Neck webbing or thick neck.
o Wide carrying angle (cubitus valgus).
o Widely spaced nipples.
o Congenital heart defects (particularly coarctation of the aorta).
o Delayed puberty.
o Ovarian dysgenesis resulting in infertility, although pregnancy may be possible with
in-vitro fertilisation (IVF) with donated ova.
o Hypothyroidism.
o Renal anomalies.
o Pigmented moles.
o Recurrent otitis media.
o Most patients tend to be of normal
intelligence, but intellectual disability is
seen in up to 6% of affected children.
Ibnlatef Notes Pediatrics

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Management:
 Medical Care
o Turner syndrome is a lifelong condition.
o Health supervision involves careful medical follow-up care, which includes
screening for commonly associated chronic diseases.
o Early preventive care and treatment are also essential.
o In childhood, growth hormone therapy is standard to prevent short stature as an
adult.
o Estrogen replacement  for development of secondary sexual characteristics at
the time of puberty (but infertility persists).
o Androgen replacement therapy is not the standard of care, but may have favorable
effects.
 Surgical care:
o Patients are suspected of having a high risk of keloid formation.
o Subacute bacterial endocarditis (SBE) prophylaxis may be required prior to any
dental or surgical procedure in women with cardiac valve disease to prevent SBE.
 Consultations:
o Endocrinologist:
 Growth and development, thyroid status, and osteoporosis prevention with
growth hormone, estrogens, and progestins.
 Patients on growth hormone should be seen every 3-6 months.
o Cardiologist:
 Patients with systemic hypertension or aortic valve anomalies are at higher risk
for aortic dissection.
 Patients found to have significant anomalies should have long-term follow-up
care and possibly SBE prophylaxis.
 Because of the risks of aortic root dilatation and mortality due to aortic
dissection, cardiac evaluation (including echocardiography) may be worthwhile
every 5 years, even in patients with normal findings on initial cardiovascular
examination.
 Patients contemplating pregnancy should have a complete cardiovascular
evaluation prior to attempting assisted reproduction or conception.
 Patients with a bicuspid aortic valve, coarctation of the aorta, or dilation of the
aorta have a higher risk of dissecting aortic aneurysm or rupture.
o Nephrologist or urologist:
 Almost a third of patients have renal anomalies that may require evaluation and
follow-up care by a nephrologist.
 At a minimum, such patients should have a yearly urine culture and an annual
measurement of BUN and creatinine levels.
 Girls with horseshoe kidneys have an increased risk of Wilms tumor.

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 Patients with horseshoe kidneys should have renal ultrasound examinations
every 4-6 months until the age 8 years and every 6-12 months thereafter.
o Psychologist:
 Overall psychological health is good, but specific perceptual weaknesses or
learning disabilities may be present.
 Assessment of intelligence, learning ability, motor skills, and social maturity
should be made prior to enrollment in kindergarten.
 Problems with math and with visual spatial skills (eg, map reading) are common.
 Attention deficit hyperactivity disorder is more common in girls with Turner
syndrome than in girls in general.
 Intelligence is usually normal, but individuals with ring chromosomes may have
impaired intelligence.
 As with any chronic illness, attention should be paid to fostering healthy
socialization and to appropriate career and vocational planning.
 Patients with Turner syndrome are more likely to be employed than other adult
women, although less likely to be married.
o Genetics:
 Turner syndrome is not an inherited disorder, and the recurrence risk is low.
 Because of infertility, the syndrome is rarely passed to offspring.
 Consultation is helpful when the condition is diagnosed in utero or when Turner
syndrome is suspected in the setting of a normal peripheral blood karyotype.
 Patients should be tested for the presence of Y-chromosomal material using a Y-
centromeric probe.
 Diet:
o Dietary requirements are similar to those of other children or adults.
o Both short stature and ovarian failure are risk factors for osteoporosis, and care
should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin
D (at least 400 IU).
o Patients should avoid obesity because it increases already high risks of
hypertension and insulin resistance.
o Patients with short stature require fewer calories than those of normal height.
 Activity
o Physical activity should be encouraged as prevention for obesity and osteoporosis.
o Eligibility for competitive sports should be established by a cardiologist after a
comprehensive evaluation.
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