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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 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

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




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


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