Which specialists should I refer a child with short stature to for evaluation of genetic and nutritional causes?

Specialist Referral for Pediatric Short Stature

Refer a child with short stature to a pediatric endocrinologist between ages 2-3 years for growth monitoring, and to a medical geneticist if dysmorphic features, abnormal body proportions, or developmental delays are present. 1

Primary Referral: Pediatric Endocrinology

A pediatric endocrinologist should be the first-line specialist for most children with short stature (height <3rd percentile or <2 SD below mean). 1, 2 This referral is appropriate when:

• Growth velocity falls below the 25th percentile for age and sex 2, 3
• The child crosses multiple percentile lines downward after age 3 years 1, 2
• Constitutional delay or familial short stature needs confirmation 2, 4
• Endocrine causes require evaluation (growth hormone deficiency, hypothyroidism) 1

The endocrinologist will assess thyroid function (TSH, free T4), IGF-1, and IGFBP-3 levels, as endocrine abnormalities account for approximately 2% of pathologic short stature cases. 1

Secondary Referral: Medical Genetics

Refer to a medical geneticist when specific red flags suggest a genetic or syndromic etiology: 1

Absolute Indications for Genetics Referral:

• Dysmorphic features (facial anomalies, unusual body habitus) 1, 5
• Disproportionate body measurements (elevated sitting height-to-standing height ratio suggesting skeletal dysplasia) 4
• Developmental delays or intellectual disability 1, 5
• Turner syndrome stigmata in girls (webbed neck, shield chest, widely spaced nipples, cubitus valgus) 2
• Height ≤ -3 SD with or without subtle skeletal anomalies 4
• Small for gestational age (SGA) with failure to catch up by age 2 years plus additional anomalies 2, 5

Genetic Testing Priorities:

The geneticist will order chromosomal microarray or karyotype when chromosomal abnormalities are suspected—these account for 19% of pathologic cases, with Turner syndrome being most common. 1 Targeted molecular panels for genes associated with short stature and intrauterine growth restriction are available for syndromic presentations. 1

Tertiary Referral: Gastroenterology

Refer to pediatric gastroenterology if feeding difficulties, failure to thrive, or malabsorption is suspected. 1 This includes:

• Persistent feeding difficulties requiring evaluation for gastroesophageal reflux or swallowing dysfunction 1
• Poor weight gain despite adequate caloric intake 1
• Signs of celiac disease or inflammatory bowel disease 6

Gastroenterology consultation may identify the need for assisted feeding (nasogastric or gastrostomy tube), which is necessary in 40-50% of certain genetic syndromes like cardio-facio-cutaneous syndrome. 1

Common Pitfalls to Avoid

• Do not delay endocrinology referral until after age 3 years—refer between ages 2-3 years for optimal growth monitoring, or earlier if growth concerns exist. 1
• Do not assume downward percentile crossing in the first 3 years is always benign—while often physiologic, it requires close monitoring and may warrant evaluation if accompanied by other features. 1, 2
• Do not overlook nutritional assessment—approximately 50% of referred children have non-pathologic familial short stature or constitutional delay, but nutritional deficiencies must still be excluded. 1, 2
• Do not refer to genetics without first documenting growth velocity—this is the single most useful indicator for distinguishing pathologic from non-pathologic causes. 1, 2, 3

Algorithmic Approach to Referral

1. Measure height and plot on appropriate growth chart (WHO <24 months; CDC ≥24 months) 2
2. Calculate growth velocity over 4-6 months 1, 2, 3
3. Perform systematic physical examination for dysmorphic features and body proportions 1, 4
4. Obtain bone age radiograph (left hand/wrist) 2, 3

If growth velocity is normal AND no dysmorphic features: → Pediatric endocrinology 2, 3

If dysmorphic features, disproportionate growth, OR developmental delays present: → Medical genetics (may co-refer with endocrinology) 1, 4, 5

If feeding difficulties or failure to thrive predominate: → Gastroenterology (may co-refer with endocrinology) 1