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