Approach to tall stature
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Transcript of Approach to tall stature
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Approach to tall
stature.
By: Dr Inayat Ullah.
PGY-II Pediatrics Shifa International Hospital Islamabad
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Definition.
• Tall stature is defined as height beyond 97th
percentile (i.e., over two standard deviations)
of mean for age and sex.
•
• Excessive growth is defined as an abnormally
rapid growth velocity, which could manifest as
height acceleration across two major percentile
lines on the growth chart.
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Growth charts.
• Height charts
• Weight charts
• BMI charts
• Proportionate charts
– Sitting height
– Sub-ischial leg length
• Growth velocity charts.
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Predictors of height.
• Genetics, nutrition, hormones (growth hormone,
thyroid hormone, estrogen and testosterone) and
overall health.
• The growth spurt around puberty occurs around
2 years earlier in girls when compared to boys,
but the boys tend to be taller when it begins.
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Height Predictors (MPH)
• Mid-parental height (MPH):
• Target height for boy = ([Father’s height + 13] + Mother’s height)/2 cm.
• Target height for girl = (Father’s height + [Mother’s height – 13])/2 cm.
• MPH is an indicator of child’s genetic potential for growth. The value is plotted as adult height at 18 years and the target range is 6 cm on either side of the target height (TH). This becomes the target range and if the child’s height is within these percentiles, it is considered as normal.
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Regulation of growth
Normal human growth can be divided into three
overlapping stages each under the control of different
factors:
1. Infancy:
o Largely under nutritional regulation
o Wide inter-individual variation in rates of growth
o Many infants show significant ‘catch-up’ or ‘catch-
down’ in weight and length
o By 2 years, length is much more predictive of final
adult height than at birth
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Regulation of growth
2. Childhood:
o Growth hormone (GH) and thyroxine
o Mini-growth spurts with intervening stasis, each phase lasting
several weeks
o Over years, a child will tend to maintain their centile position
on height charts, with a height velocity between the 25th and
75th centiles
3. Puberty:
o The combination of GH and sex hormones promotes bone
maturation and a rapid growth acceleration or ‘growth spurt’.
o In both sexes, oestrogen eventually causes epiphyseal fusion,
resulting in the attainment of final height.
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Assessment of growth
• To minimize error in the calculation of height
velocity (cm/year), height measurements should be
taken
• at least 6 months apart
• using the same equipment and
• Ideally by the same person.
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Height measurements
• From birth to 2 years
old, supine length is
measured ideally using
a measuring board (e.g.
Harpenden
neonatometer).
• Two adults are needed
to ensure that the child
is lying straight and legs
extended.
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Height measurements
• From 2 years old, standing height is
measured against a wall-mounted or
free-standing stadiometer
• Without footwear
• Heels & back touching the wall
• Looking straight ahead
• Gentle but firm pressure upwards
applied to the mastoids from underneath
• US / LS ratio
• Horizontal Arm span
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Etiology of Tall Stature.
• Familial:
– (constitutional) tall stature common cause
• Nutritional:
– Exogenous obesity.
• Endocrine:
– Precocious puberty (early stage), pituitary gigantism,
McCune-Albright syndrome, thyrotoxicosis,
androgen/estrogen deficiency, estrogen resistance (in
males), testicular feminization, adrenocorticotropic
hormone (ACTH)/cortisol deficiency, ACTH/cortisol
resistance and aromatase deficiency.
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Etiology (cont’d)
• Chromosomal:– Klinefelter syndrome (XXY), fragile X syndrome, XYY
syndrome.
• Collagen vascular:– Marfan syndrome.
• Metabolic:– Homocystinuria.
• Fetal overgrowth syndrome:– Maternal diabetes mellitus, cerebral gigantism (Sotos
syndrome), Beckwith-Wiedemann syndrome, Weaver syndrome, Simpson-Golabi-Behmel overgrowth syndrome, other (IGF)-2 excess syndrome.
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Causes of tall stature
• Familial Tall Stature:
• Most common cause of tall stature seen in
childhood and adolescence.
• Length of the child may be above average at
birth.
• History of a very tall parent or a close relative
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Marfan’s Syndrome.
Marfan syndrome:
Hypotonia, joint laxity (thumb sign and wrist sign), lax skin,
ectopia lentis, abnormally flat cornea, blue sclera, iridodonesis,
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Marfan's syndrome
arachnodactyly, dolichocephaly,
malar hypoplasia, retrognathia,
downslanting palpebral fissures,
high arched palate, crowding of
teeth, pectus excavatum or
carinatum, scoliosis,
aortic aneurysm, aortic
regurgitation, mitral valve
prolapsed
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Homocystinuria:
• Ectopia lentis, cataracts,
• Arachnodactyly,
• Pectus excavatum or carinatum,
• Genu valgum, pes cavus,
• High arched palate,
• Scoliosis,
• Crowding of teeth
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Klinefelter syndrome
• Gynecomastia, small testes,
• Sparse facial hair,
• Micropenis,
• Delayed pubertal development,
• Cryptorchidism,
• Hypospadias
• Thin and tall for age
• Low upper/lower segment ratio (long legs)
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The XYY Syndrome
• Newborns are normal
• Many adult males are normal
• Tall stature, hypospadias and/or cryptorchidism, severe acne, radio-ulnarsynostosis
• Mild or moderate mental retardation, but findings of an XYY karyotype in newborn does NOT predict intelectual function
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Sotos Syndrome =
Cerebral Gigantism• Unknown etiopathogenesis
• Transmitted AD & AR
• Large at birth (W&H), rapid growth in first year of life, above 97% for height at 1 year of age
• Rapid growth in first 3-4 years
• Arm span > 5cm above height (normally negative up to age 12 years)
• Irritability, feeding problems, delayed developmental milestones (esp. impaired fine motor control), IQ around 70.
• Mildly dilated cerebral ventricles, sometimes abnormal EEG,
• Poor intelectual prognosis
• Supposed to be at risk for hepatic neoplasm
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Beckwith-Wiedemann syndrome• Hepatosplenomegaly,
• Nephromegaly,
• Macrososmia,
• Macroglossia,
• Omphalocele,
• Renal malformations,
• Ear creases/pits,
• Facial nevus flammeus
• Post natal gigantism and asymmetry: high risk for wilm’s tumor.
• Transient hyperinsulinemia and hypoglycemia
Diagnostic triad at birth
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Omphalocele
Visceromegaly
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Mc-Cune Albright Syndrome
• Polyostotic Fibrous Dysplasia
• Café au lait spots, irregular border, unilateral
and asymmetrical
• Endocrinopathies,most common
Hyperthyroidism and Precocious Puberty
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Weaver syndrome
• Broad forehead and face,
• Ocular hypertelorism,
• Prominent wide philtrum,
• Micrognathia,
• Deep horizontal chin groove,
• Deep-set nails
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Simpson-Golabi-Behmel syndrome
• Large protruding jaw,
• Widened nasal bridge,
• Macroglossia,
• Upturned nasal tip,
• Coarse face, ‘bulldog-like’ appearance, supernumerary nipples,
• Generalized muscular hypotonia, congenital heart defect
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Physical Examination
• Meticulous measurement of parameters height, weight, BMI, upper segment/lower segment ratio, arm span and height/arm span ratio is essential.
• Accurate plotting of anthropometric parameters on growth chart
• Crossing height percentiles between infancy and onset of puberty always warrants further evaluation.
• Specifically look for signs of obesity, signs of precocious or delayed puberty, dysmorphism, stigmata of specific disorders known to be associated with tall stature.
• Tanner sexual maturity rating (SMR) should be done in all children presenting with tall stature as a routine practice..
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MANOEUVRES TO ASSES FOR
TALL STATURE
• HANDS AND FEET TOGETHER:• Hemihypertrophy
• Unilateral growth arrest
• Genu valgum
• Genu recurvatum
• Pes planus
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MANOEUVRES (cont’d)
• Bend over and touch toes:
– Scoliosis (Marfan, homocystinurea,sotos,NF-1)
– Kyphosis (with scoliosis as above, pituitary
gigantism)
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MANOEUVRES (cont’d)
• Mobility:
– Hyper mobility (Marfan's)
– Limitation of extension (homocystinuria)
• Arachnodactyly
– To detect marfan’s syndrome.
• Tremors:
– To detect hyperthyroidism.
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Investigation
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MANAGEMENT
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TREATMENT
• Reassurance of the family and the patients is
the key to the management of normal variant
tall stature.
• The use of the bone age and a careful
assessment of pubertal status to predict adult
height
• General supportive discussions on the social
acceptability of this condition
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TREATMENT (Cont’d)
• Even though treatment is available for girls and boys with excessive growth.
• Its use should be restricted to patients with:
– Predicted adult height > 3 SD above the mean (78 inches or 198 cm in male patients, 71 inches or 180 cm in female patients) and
– Evidence of significant psychosocial impairment.
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Treatment
• For those with extreme tall familial height or those with Marfan’s syndrome
• Sex steroid will cause early epiphyseal fusion and growth arrest and will accelerate puberty
• Oral ethinyl estradiol at a dose of 0.15-0.5 mg/24 hr until cessation of growth occurs has been used successfully in girls. If necessary, a progestational agent can be added after 1 year of unopposed estrogen.
• In boys, treatment should begin before the bone age reaches 14 yr; testosterone enanthate is used at a dose of 500 mg IM every 2 wk for 6 mo
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Treatment of growth hormone oversecretion.
• The goals of therapy:– to remove or shrink the pituitary mass,
– to restore GH and secretory patterns to normal,
– to restore IGF-I and IGFBP-3 levels to normal,
– to retain the normal pituitary secretion of other hormones, and to prevent recurrence of disease.
• For well-circumscribed adenomas, transsphenoidal surgery The likelihood of surgical cure depends greatly on the surgeon's expertise as well as on the size and extension of the mass
• The goal of treatment: – Normalize GH levels.
– GH levels (<1 ng/mL within 2 hr after a glucose load) and serum IGF-I levels (age adjusted normal range) are the best tests to define a biochemical cure.
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• If surgery fails to normalize growth hormone level:
– Medical theraphy
– Radiation
• Tumor growth is arrested in 99 % cases by radiations but it has delayed efficacy in lowering GH level
• Hypopituitarism is predictable outcome in 40-50 % cases after 10 yr irradiation.
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Medical management
• Somatostatin analogs: highly effective in the treatment of patients with GH excess.– Octreotide suppresses GH to less than 2.5 ng/mL in 65%
of patients with acromegaly and normalizes IGF-I levels in 70%
• For cases that have both GH and prolactin oversecretion, dopamine agonists, such as bromocriptine, should be considered which bind to pituitary dopamine type 2 (D2) receptors and suppress GH secretion
• It is generally used as adjuvant medical treatment for GH excess. Its effectiveness may be additive to that of octreotide.
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