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Evaluation of short stature in children

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Evaluation of short stature in children

  1. 1. Evaluation Of Short Stature in Children Dr Tariq Azam khattak MBBS (AM College MCPS ,FCPS(Pediatrics
  2. 2. Growth Physiology EnvironmentGenetic factors Growth Hormones •Growth hormone •Thyroid hormone Dietary factors •Gonadotrophins
  3. 3. Factors affecting height Intra FSHuterine Nutrition LH Growth HormoneGrowth Thyroid harmone GHfactors Thyroid Birth 1 year 2 years 4years 8years Puberty Adult
  4. 4. Normal height patternBirth length 50cmOne year 75 cmTwo yrs 87.5 cmThree yrs 93.75 cm growth4 yrs 100 cm velocity8 yrs 125 cm 6 cm12 yrs 150 cm per year
  5. 5. Growth ChartsEasy InstrumentMonitoring– Growth Velocity– Growth Pattern
  6. 6. Definition A child whose height is below 2 standard deviations for age and gender Males 200 78 190 +2 +1 74 Generally 180 0 70 accepted 170 -1 160 -2 66 -2.0 SD (2.3 percentile) definition of 62 normal rangeHeight (cm) 150 Height (in) 58 140 54 130 50 120 46 110 42 100 38 90 34 80 30 70 2 4 6 8 10 12 14 16 18 20 Age (y )
  7. 7. Etiology of short staturePhysiological– Familial or genetic– Constitutional short staturePathological– Malnutrition– Chronic systemic illness– Hormonal deficiency states
  8. 8. SHORT STATURE Dysmorphic Normal Dis- Proportionate Proportionate•Russle Silver •Constitutional •Osteogenesis•Noonan’s •Familial/genetic imperfecta•Turner syndrome •IUGR •Achodroplasia•Downs syndrome •Ch Malnutrition •Rickets•Prader Willi •Celiac Disease •Metabolic and•Pseudo- •Chronic systemic storage disordershypoparathyroidism disease (CRF, CLD) (short spine) •GH Deficiency •Hypogonadism •Hypothyroidism
  9. 9. Most parents contribute short stature tohormonal def. large randomized trials haveshown only 5% cases are attributed to hormonesMost common cause is malnutrition indeveloping countries Familial or constitutional is the leading cause indeveloped countries
  10. 10. Approach to a child with short statureHistoryPhysical examinationHeight of the childHeight of parentsPlotting on growth chartworkup
  11. 11. HistoryBirth historyNutritional historyChronic disease history (asthma, CHD,CLD,CRF, chronic diarrhea)Drugs….chronic steroid therapyFamily history
  12. 12. Physical examinationWeight measurement (fat & short….endocrine,thin & short……under nutrition or chronic illnessSystemic examination to rule out systemic illnessskeletal system examination including spineDysmorphic featuresTanner staging
  13. 13. Height measurements Without 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
  14. 14. Target heightTarget height in cm for a girl = [mothers height incm + (fathers height in cm - 13)] /2Target height in cm for a boy = [(mothers heightin cm + 13) + fathers height in cm)] /2
  15. 15. Growth Target centiles chart
  16. 16. Workup for short statureRule out chronic disease (Hemoglobin, hepaticand renal profile)Rule out malabsorption (esp. if history issuggestive)Karyotyping for all females with short stature torule out turner syndromeX-ray for bone age (usually left wrist)
  17. 17. Bone ageBetter correlate with SMRPredictor of future height
  18. 18. Delayed bone ageConstitutional short statureHypothyroidismCeliac diseaseGH deficiency
  19. 19. Familial Vs Constitutional hallmarks of familial (genetic) short stature is normalbone age, normal growth velocity, and predicted adultheight appropriate to the familial patternBy contrast, constitutional growth delay is characterizedby delayed bone age and predicted adult heightappropriate to the familial patternPatients with constitutional growth delay typically have afirst or second-degree relative with constitutional growthdelay (menarche older than 15 y, adult height attained inmale relatives when older than 18 y)
  20. 20. Growth hormone actions Growth Hormone GH receptors LiverMetabolic effectsMetabolic effects (Anabolic) Synthesis of IGF1 GH receptors IGF receptors Proliferation of Cells Linear Growth Linear growth Cellular growth
  21. 21. Workup for GH defendogenous GH is secreted in a pulsatilefashion. These intermittent peaks are greatestafter exercise, meals, and during deep sleep.Therefore, measuring a single random serumGH value is of no use in the evaluation of theshort child.random serum GH value of more than 10 mg/dLgenerally excludes GHD, a random low serumGH concentration does not confirm the diagnosis
  22. 22. GH stimulation testInsulin-induced hypoglycemia is the mostpowerful stimulus for GH secretion; however,this test also carries the greatest potential forharm.Alternate GH stimulants used successfully arearginine, levodopa, propranolol with glucagon,exercise, clonidine, or epinephrine.GH provocative testing should be done underthe supervision of a pediatric endocrinologist
  23. 23. IGF-1 and IFGBP-3 measurementIGFBP-3 and IGF-1 serum levels represent astable and integrated measurement of GHproduction and tissue effectsIGF-1 have superior diagnostic sensitivity andspecificity compared with IGFBP 3.The combination of IGF-1 and IGFBP-3measurements appears superior to determiningeither analyte alone in the diagnosis of growthhormone (GH) related disorders
  24. 24. Interpretation of resultsIf IGF-1 and IGBP-3 level are normal then it showsthat GH level is also normal (no need for GH testing)If IGF-1 and IGBP-3 level are low then it may be dueto GH def or GH resistance-----go for GH basal leveland after stimulationIf GH also low then GH def, if normal or high then GHresistance ( Primary IGF-1 def)
  25. 25. Take Home MessageTake 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 6monthsA systematic approach and simple tests like bone ageusually reduce the need & hence cost of furtherinvestigationsFor dynamic stimulation tests refer the child to specialistcentres

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