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Approach to the child with short stature

Approach to the child with short stature. Eva Tsalikian, M.D. Stead Family Department of Pediatrics Pediatric Endocrinology 4/16/14. Objectives. Short stature a. General b. Familial c. Constitutional growth delay d. Growth hormone deficiency. Names associated with delayed growth.

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Approach to the child with short stature

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  1. Approach to the child with short stature Eva Tsalikian, M.D. Stead Family Department of Pediatrics Pediatric Endocrinology 4/16/14

  2. Objectives • Short stature • a. General • b. Familial • c. Constitutional growth delay • d. Growth hormone deficiency

  3. Names associated with delayed growth • Intrauterine growth retardation • Failure to thrive • Short stature • Growth and pubertal delay

  4. Times of growth • Intrauterine growth • growth in Infancy • toddlers and preschool children • childhood - preadolescents • puberty- adolescents • adults

  5. Prenatal and Postnatal growth velocity Birth 10 8 Crown-Heel length Velocity (cm/4wk) 6 4 2 2 20 0 18 10 20 30 40 16 Postmenstrual age (wk) Height Velocity (cm/yr) 14 12 10 8 6 4 2 Age (yr) 0 0 2 4 6 8 10 12 14 16 18

  6. Diagnostic Evaluation of short stature HISTORY • birth weight and length • growth pattern to date and previous records • family heights

  7. Parental heights

  8. Midparental height calculation girls Father’s height- 5 inches + mother’s height 2 boys Mother’s height + 5 inches + Father’s height 2 Midparental height Target: Midparental height + 2SD(2inches)

  9. Diagnostic evaluation of short stature PHYSICAL EXAM • accurate measurements • facies, body proportions • body fat distribution • pubertal staging

  10. Height measurementages 2-18yrs

  11. Growth velocity

  12. Tanner I Breast Development

  13. Tanner II Breast Development

  14. Female Genitalia

  15. Tanner Staging -- Boys

  16. Male Genitalia

  17. Diagnostic evaluation (continued) LABORATORY TESTS : general screening tests (CBC & differential, chemistry panel, ESR) RADIOGRAPHIC EVALUATION (bone age) HEIGHT PREDICTION • from parental heights • from bone age

  18. Bone Age 9 years Bone Age 14 years

  19. SHORT STATURE • Common complain • Symptom not a disease • Important to differentiate Normal variant Pathologic short stature Genetic/familial Constitutional delay of growth Proportionate Disproportionate

  20. SHORT STATURE NORMAL VARIANTS • Familial short stature Family history of short stature Normal growth velocity Normal bone age • Constitutional delay of growth and puberty Family history of similar growth pattern but average to tall final height Low normal growth velocity Delayed bone age

  21. Growth patterns

  22. SHORT STATURE PATHOLOGIC • Disproportionate Uncommon, mostly due to skeletal dysplasias: achondroplasia or dyschondroplasia hypophosphatemic rickets • Proportionate Short stature Most common, etiology prenatal or postnatal

  23. Growth chart for children with Achondroplasia

  24. Proportionate Short Stature:Etiology • Prenatal disorders Intrauterine growth retardation Dysmorphic syndromes Chromosomal anomalies

  25. Turner syndrome growth chart

  26. PROPORTIONATE SHORT STATURE: Etiology • Postnatal disorders Undernutrition Psychosocial dwarfism Chronic diseases Drugs Hormones

  27. Undernutrition and short stature • Low caloric intake famine-feeding problems • Celiac Disease • Crohn’s disease

  28. Growth pattern of a child with psychosocial dwarfism

  29. Hormonal disturbances responsible for short stature • Hypothyroidism Congenital/Acquired • Hypercortisolism Cushing disease/ syndrome • Growth hormone deficiency • Sex steroids/Pubertal delay

  30. HYPOTHYROIDISM

  31. 97% PE: Child small for age, Proportionate, no abnormal features, wears glasses, rest of exam WNL 26 months old boy 50% 3%

  32. Prevalence of growth hormone deficiency: Utah Growth Study • 114,881 children studied • GHD: height >2 SD below mean, growth rate<5 cm/yr, delayed bone maturation, peak GH<10ng/mL • 16 new cases identified • Prevalence 1:3480 Lindsay R. J. Pediatr 1994;125:29-35

  33. Growth hormone deficiency • 1 in 4000 children, 1% of “short” children • Clinical characteristics -short stature -chubby face, truncal obesity -delayed skeletal maturation -high-pitched voice • Etiology: idiopathic vs organic

  34. Growth Hormone Deficiency: Diagnosis • No “gold standard” exists -Short stature, slow growth, compatible physique -Low IGF-I, IGF BP-3 -insufficient rise in serum GH following provocative stimuli -Deficiencies of other pituitary hormones

  35. Take Home Message Short stature is a symptom not a disease Etiology could be normal variant or pathologic Careful and specific H/P and laboratory testing will guide you to the diagnosis and appropriate management Growth rate determination and accurate measurements important

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