#70: Short Stature – The Long and Short of It

November 9, 2022 | By Sam Masur

Summary

Is your growth chart evaluation coming up a little short? Dr. Laurie Cohen joins us today to help our knowledge on short stature GROW!

Credits

• Producer, Writer, and Infographic: Maggie Ivanova MD
• Executive Producer: Max Cruz MD
• Showrunner: Sam Masur MD
• Cover Art: Chris Chiu MD
• Hosts: Justin Berk MD & Maggie Ivanova MD
• Editor:Justin Berk MD; Clair Morgan of nodderly.com
• Guest(s): Laurie Cohen, MD

Short Stature Pearls

1. Short stature is defined as height/length ≥2 standard deviations (SD) below the mean on a standardized growth curve. 
2. The differential for short stature includes normal variation, systemic disease, endocrine disorders, and genetic syndromes. 
3. The basic workup for short stature should include a bone age for most children. If additional signs/symptoms are present on history or physical exam, or if there is severe short stature, additional work up for systemic, endocrine, and genetic causes should be pursued. 
4. The risks and benefits of growth hormone therapy should be evaluated on a case-by-case basis before pursuing growth hormone therapy for idiopathic short stature.

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Short Stature Notes

Definition: 

Height/length 2 standard deviations or more below the mean, on a standardized growth curve.

History 

• Birth/pregnancy history 
• Length, weight, head circumference at birth 
• Symptoms of chronic disease
• Family history (parental height, timing of puberty)
• Medications (use of glucocorticoids, stimulants) 
• Dietary history 
• Social history 

Physical Exam

• Anthropometric measurements  
• Body proportion
• Pubertal stage
• Dysmorphic features 

Red Flags 

• Length/height ≥2 SD below the mean on standardized growth chart.
• Evidence of growth failure: Downard crossing of growth curve across 2 major height percentiles.
• Large discrepancy between projected height and target mid-parental height.
• Features suggesting systemic or endocrine disease on history or physical exam. 

Differential Diagnoses 

Normal Variants: Normal height velocity.  

• Familial Short Stature: Bone age consistent with chronological age. 
• Constitutional Delay: Delayed bone age, family history of “late bloomer”.
• Idiopathic Short Stature: Diagnosis of exclusion, height below expected mid-parental height with no evidence of genetic, systemic, or endocrine disease.

Systemic Disorders: Low height velocity, often with low weight-for-height. 

• Undernutrition

• • GI: IBD, celiac, etc.
  • Rheumatologic: Systemic JIA, etc. 
  • Renal: CKD, RTA, etc.
  • Pulmonary: Cystic fibrosis, severe asthma, etc.
  • Cardiac 

• Immunologic: Immunodeficiencies, chronic infection 

• Oncologic

Endocrine Disorders: Low height velocity, elevated weight-for-height. 

• Growth hormone deficiency: History of neonatal hypoglycemia, prolonged jaundice, micropenis.

• Hypothyroidism: History of constipation, dry skin, cold sensitivity.
• Cushing’s Syndrome: Can see associated central adiposity, suprascapular fat pad, abdominal striae, hirsutism, acne. 
• Hypopituitarism: Consider if history of intracranial tumor, cranial irradiation, or head injury .

Genetic Disorders: Low height velocity with associated dysmorphic features.

• Turner Syndrome: Consideration in girls, may also have shield chest, webbed neck, cubitus valgus, Madelung deformity of forearm.
• SHOX gene mutations
• Prader-Willi Syndrome
• Noonan Syndrome 
• Skeletal Dysplasias 

Diagnostic Work Up

For all: 

• Bone age

Broader testing to consider based on history/physical exam findings: 

• Celiac serology: Growth failure can sometimes be the only presenting symptom!
• CBC, ESR, CRP, electrolytes, BUN, Cr, LFT’s. 
• Hypothyroidism screen: TSH, fT4.
• Growth hormone deficiency screen: IGF-1, IGFBP-3.  
• In all girls: Karyotype or chromosomal array to rule out Turner Syndrome. 
• If other dysmorphic features: Chromosomal array.

Indications for cranial MRI:

• History of brain tumor or cranial irradiation.
• Confirmed growth hormone deficiency.
• Midline defects.
• Neurologic/visual symptoms .

Considerations for Growth Hormone Therapy Initiation

• Subcutaneous daily injections. Titrate dose based on growth velocity +/- IGF-1 levels (expert opinion).
• FDA approved indications: Growth hormone deficiency, CKD, Turner syndrome, SGA with failure of catch-up growth, Prader-Willi syndrome, idiopathic short stature. 
• Side effects: SCFE, pseudotumor cerebri, insulin resistance.
• Outcomes: Mean increase ~4-6cm, although wide variation (Finkelstein, et al).
• Should consider risk-to-benefit ratio when considering starting growth hormone therapy in patients with idiopathic short stature. Unless significant psychosocial consequences, should consider not treating given lack of compelling evidence of increased growth (expert opinion).

Goal

Listeners will explain the basic definition, work up, and management of short stature in the outpatient setting. 

Learning Objectives

After listening to this episode listeners will be able to…  

1. Interpret the pediatric growth chart and identify children with short stature
2. Recognize red flags in pediatric growth
3. Develop a differential for the benign and pathologic causes of growth failure 
4. Perform a basic diagnostic work up for a child with short stature
5. Recognize the indications for growth hormone therapy

Disclosures

The Cribsiders report no relevant financial disclosures. 

Citation

Ivanova M, Cohen L, Cruz M, Masur S, Chiu C, Berk J. “Short Stature – The Long and Short of It”. The Cribsiders Pediatric Podcast. https:/www.thecribsiders.com/ November 9, 2022.