Referral Guidelines are peer reviewed guidelines developed to assist referring providers in their approach to a patient presenting with common signs or symptoms suggestive of an endocrine condition, and when to refer to Pediatric Endocrinology.
Symptoms/signs:
Child well below 3rd percentile for height
Child with decreasing growth velocity – crossing percentiles down after the age of 3 years
Child’s height is significantly below the genetic potential
Child with a history of IUGR without catch-up growth by age 2
Syndromic appearance, abnormal body proportions
Blood tests:
Total or free T4 and TSH
Comprehensive metabolic panel
Complete blood count
ESR or CRP
IGF-1
IGFBP-3
Tissue transglutaminase IgA
Total serum IgA
Can consider chromosome analysis if female child has features of Turner’s syndrome
Radiologic studies:
Bone age x-ray of left hand and wrist
Urgent:
If child is growing poorly and is having headaches or vision changes
If you suspect a child may have multiple hormone deficiencies
Routine:
Height below 3rd percentile
Abnormal growth velocity in a child older than 3 years
Height potential is different than expected for the family.
- Previous growth data/growth charts
- Pertinent medical records
- Recent laboratory studies
- Bone age x-ray (actual film) if done
Common causes:
Familial or intrinsic short stature
Constitutional delay of growth and puberty
O Children typically cross percentiles downwards in the first 3 years, and then grow at a normal growth velocity on the lower percentiles or just below the 3rd percentile
o Bone age is delayed
Idiopathic short stature
o Height < 2.25 SD below the mean for age and sex (shortest 1.2% of children) – FDA definition
o Multiple etiologies are likely
o Unlikely to attain adult height in the normal range (less than 63 inches for boys and 59 inches for girls)
o Diagnostic evaluation excludes other causes of short stature
Small for gestational age without catch up growth by 2 years
Other causes:
Endocrine abnormalities:
Growth hormone deficiency
Hypothyroidism
Cushing’s syndrome
Growth hormone insensitivity
Metabolic disease:
Rickets
Diabetes mellitus
Syndromic:
Turner’s syndrome
Noonan’s syndrome
Trisomy 21
Russell-Silver Syndrome
Prader-Willi Syndrome
DiGeorge Syndrome
Chronic Illness:
Gastrointestinal diseases
o Celiac disease
o Inflammatory bowel disease
Pulmonary diseases
o Asthma
o Cystic fibrosis
Cardiac disease
Renal disease
Diabetes mellitus
Glucocorticoid treatment
Musculoskeletal issues:
Skeletal dysplasia
Spinal disorders
Psychosocial issues:
Psychosocial dwarfism
Fetal alcohol syndrome
Additional Information:
Mid-parental target height can be calculated with the following formulas:
For boys: Mother’s height + 5 inches averaged with father’s height
For girls: Father’s height – 5 inches averaged with mother’s height
- Rogol AD, Hayden GF. Etiologies and early diagnosis of short stature and growth failure in children and adolescents. J Pediatr 2014;164:S1-S14.
- Cohen LE. Idiopathic short stature. A clinical review. JAMA. 2014;311(17):1787-1796.
Author: Dianne Deplewski
May 1, 2020