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
Intrauterine growth retardation Failure to thrive Short stature Growth and pubertal delay
Times of growth
Intrauterine growth growth in Infancy toddlers and preschool children childhood - preadolescents puberty- adolescents adults
Prenatal and Postnatal growth velocity
10 20 30 40
0 2 4 6 8 10 12 14 16 18
Birth
0
2
10
8
6
2
20
0
Crown-Heel length Velocity (cm/4wk)
Height Velocity (cm/yr)
Postmenstrual age (wk)
Age (yr)
18
2
4
6
8
10
16
14
12
4
Diagnostic Evaluation of short stature
HISTORY birth weight and length growth pattern to date and previous
records family heights
Parental heights
Midparental height calculation
Father’s height- 5 inches + mother’s height 2
Mother’s height + 5 inches + Father’s height2
Midparental height Target:
Midparental height + 2SD(2inches)
Diagnostic evaluation of short stature
PHYSICAL EXAM accurate measurements facies, body proportions body fat distribution pubertal staging
Height measurementages 2-18yrs
Growth velocity
Tanner I Breast Development
Tanner II Breast Development
Female Genitalia
Tanner Staging -- Boys
Male Genitalia
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
Bone Age
9 years
Bone Age14 years
SHORT STATURE
Common complain Symptom not a disease Important to differentiate Normal variant
Pathologic short stature Proportionate
Disproportionate
Genetic/familial
Constitutional delay of growth
SHORT STATURENORMAL 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
Growth patterns
SHORT STATURE
PATHOLOGIC Disproportionate Uncommon, mostly due to skeletal
dysplasias: achondroplasia or
dyschondroplasia hypophosphatemic rickets Proportionate Short stature Most common, etiology prenatal or
postnatal
Growth chart for children with Achondroplasia
Proportionate Short Stature:Etiology
Prenatal disorders Intrauterine growth
retardation Dysmorphic syndromes Chromosomal anomalies
Turner syndrome growth chart
PROPORTIONATE SHORT STATURE: Etiology
Postnatal disorders Undernutrition Psychosocial dwarfism Chronic diseases Drugs Hormones
Undernutrition and short stature
Low caloric intake famine-feeding
problems Celiac Disease Crohn’s disease
Growth pattern of a child with psychosocial dwarfism
Hormonal disturbances responsible for short stature
Hypothyroidism Congenital/Acquired Hypercortisolism Cushing disease/
syndrome Growth hormone deficiency Sex steroids/Pubertal delay
HYPOTHYROIDISM
26 months old boy50%
3%
PE: Child small for age,Proportionate, no abnormal features,wears glasses, rest of exam WNL
97%
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 1:3480Lindsay R. J. Pediatr 1994;125:29-35
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
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
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