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 18
Postmenstrual age (wk) 16
Height Velocity (cm/yr) 14 12 10 8 6 4 2
Age (yr)

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

8. Parental heights

9. 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)

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

11. Height measurement ages 2-18yrs

12. Growth velocity

13. Tanner I Breast Development

14. Tanner II Breast Development

15. Female Genitalia

16. Tanner Staging -- Boys

17. Male Genitalia

18. 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

19. Bone Age
9 years
Bone Age
14 years

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

21. SHORT STATURE NORMAL VARIANTS Normal growth velocity
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

22. Growth patterns

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

24. Growth chart for children with Achondroplasia

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

26. Turner syndrome growth chart

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

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

29. Growth pattern of a child with psychosocial dwarfism

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

32. HYPOTHYROIDISM

34. 26 months old boy 97% 50% 3% PE: Child small for age, Proportionate,
no abnormal features,
wears glasses, rest of exam WNL
50% 3%

35. 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

36. 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

38. 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

42. 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