Evaluation of short stature in children
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Transcript of Evaluation of short stature in children
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Evaluation Of Short Stature in Children
Dr Tariq Azam khattakMBBS (AM College(
MCPS ,FCPS(Pediatrics(
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Growth Physiology
Growth
Environment
HormonesGenetic factors
Dietary factors
•Growth hormone
•Thyroid hormone
•Gonadotrophins
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Factors affecting height
Intra uterine Growth factors
NutritionThyroid harmone
Growth Hormone
FSHLHGH
Thyroid
Birth 1 year 2 years 4years 8years Puberty Adult
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Normal height pattern
Birth length 50cmOne year 75 cmTwo yrs 87.5 cmThree yrs 93.75 cm growth 4 yrs 100 cm velocity8 yrs 125 cm 6 cm 12 yrs 150 cm per year
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Growth ChartsEasy Instrument Monitoring– Growth Velocity– Growth Pattern
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Definition
A child whose height is below 2 standard deviations for age and gender
Males
Age (y)
30
34
38
42
46
50
54
58
62
66
70
74
78
Heig
ht (in)
Heig
ht (c
m)
2 4 6 8 10 12 14 16 18 2070
80
90
100
110
120
130
140
150
160
170
180
190
200
0
+2
+1
-1
-2 -2.0 SD (2.3 percentile)
Generally accepted definition of normal range
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Etiology of short stature
Physiological– Familial or genetic– Constitutional short stature
Pathological– Malnutrition– Chronic systemic illness– Hormonal deficiency states
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SHORT STATURESHORT STATURE
DysmorphicDysmorphic NormalNormal
•Russle Silver•Noonan’s•Turner syndrome•Downs syndrome•Prader Willi•Pseudo-hypoparathyroidism
•Russle Silver•Noonan’s•Turner syndrome•Downs syndrome•Prader Willi•Pseudo-hypoparathyroidism
ProportionateProportionate Dis-Proportionate
Dis-Proportionate
•Constitutional•Familial/genetic•IUGR•Ch Malnutrition•Celiac Disease•Chronic systemic disease (CRF, CLD)•GH Deficiency•Hypogonadism•Hypothyroidism
•Constitutional•Familial/genetic•IUGR•Ch Malnutrition•Celiac Disease•Chronic systemic disease (CRF, CLD)•GH Deficiency•Hypogonadism•Hypothyroidism
•Osteogenesisimperfecta•Achodroplasia•Rickets•Metabolic and storage disorders(short spine)
•Osteogenesisimperfecta•Achodroplasia•Rickets•Metabolic and storage disorders(short spine)
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Most parents contribute short stature to hormonal def. large randomized trials have shown only 5% cases are attributed to hormonesMost common cause is malnutrition in developing countries Familial or constitutional is the leading cause in developed countries
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Approach to a child with short stature
History Physical examination Height of the childHeight of parentsPlotting on growth chartworkup
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History
Birth historyNutritional historyChronic disease history (asthma, CHD, CLD,CRF, chronic diarrhea)Drugs….chronic steroid therapyFamily history
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Physical examination
Weight measurement (fat & short….endocrine, thin & short……under nutrition or chronic illnessSystemic examination to rule out systemic illnessskeletal system examination including spineDysmorphic featuresTanner staging
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Height measurementsWithout footwear
Heels & back touching the wall
Looking straight ahead
Gentle but firm pressure upwards applied to the mastoids from underneath
US/ LS ratio
Total Arm span
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Target height
Target height in cm for a girl = [mother's height in cm + (father's height in cm - 13)] /2
Target height in cm for a boy = [(mother's height in cm + 13) + father's height in cm)] /2
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Growth chartTarget centiles
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Workup for short stature
Rule out chronic disease (Hemoglobin, hepatic and renal profile)Rule out malabsorption (esp. if history is suggestive)Karyotyping for all females with short stature to rule out turner syndromeX-ray for bone age (usually left wrist)
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Bone age
Better correlate with SMRPredictor of future height
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Delayed bone age
Constitutional short statureHypothyroidismCeliac diseaseGH deficiency
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Familial Vs Constitutional hallmarks of familial (genetic) short stature is normal bone age, normal growth velocity, and predicted adult height appropriate to the familial patternBy contrast, constitutional growth delay is characterized by delayed bone age and predicted adult height appropriate to the familial pattern Patients with constitutional growth delay typically have a first or second-degree relative with constitutional growth delay (menarche older than 15 y, adult height attained in male relatives when older than 18 y)
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Growth hormone actions
Growth Hormone
GH receptors
Liver
Synthesis of IGF1
Proliferation of CellsCellular growth
Linear Growth
Metabolic effects
IGF receptors
Growth Hormone
GH receptors
GH receptors Liver
Synthesis of IGF1
Proliferation of CellsCellular growth
Linear growth
Metabolic effects(Anabolic)
IGF receptors
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Workup for GH def
endogenous GH is secreted in a pulsatile fashion. These intermittent peaks are greatest after exercise, meals, and during deep sleep. Therefore, measuring a single random serum GH value is of no use in the evaluation of the short child. random serum GH value of more than 10 mg/dL generally excludes GHD, a random low serum GH concentration does not confirm the diagnosis
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GH stimulation test
Insulin-induced hypoglycemia is the most powerful stimulus for GH secretion; however, this test also carries the greatest potential for harm.Alternate GH stimulants used successfully are arginine, levodopa, propranolol with glucagon, exercise, clonidine, or epinephrine.GH provocative testing should be done under the supervision of a pediatric endocrinologist
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IGF-1 and IFGBP-3 measurement
IGFBP-3 and IGF-1 serum levels represent a stable and integrated measurement of GH production and tissue effectsIGF-1 have superior diagnostic sensitivity and specificity compared with IGFBP 3.The combination of IGF-1 and IGFBP-3 measurements appears superior to determining either analyte alone in the diagnosis of growth hormone (GH) related disorders
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Interpretation of results
If IGF-1 and IGBP-3 level are normal then it shows that GH level is also normal (no need for GH testing)
If IGF-1 and IGBP-3 level are low then it may be due to GH def or GH resistance-----go for GH basal level and after stimulation
If GH also low then GH def, if normal or high then GH resistance ( Primary IGF-1 def)
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Take Home Message
Take height properly along with the height of parentsPlot on Growth Charts and find out the target centileDetermine the growth velocity by follow up at least after 6 monthsA systematic approach and simple tests like bone age usually reduce the need & hence cost of further investigationsFor dynamic stimulation tests refer the child to specialist centres
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