Short Stature

Definition

• Height below the 3rd centile for age and sex on standard growth charts

• Often defined by significant deviation from mid-parental height

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Growth Drivers

• Neonatal: Primarily influenced by nutrition

• Childhood: Governed by growth hormone (GH) and insulin-like growth factor 1 (IGF-1) levels

• Adolescence: Driven by sex steroids contributing to the pubertal growth spurt

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Differential Diagnosis

• Physiological

  • Constitutional delay of growth and puberty (CDGP) with normal adult height and family history

  • Familial short stature based on genetic potential from mid-parental height

• Pathological

  • Perinatal factors such as prematurity, intrauterine growth restriction (IUGR) and low birth weight

  • Nutritional deficiencies from malnutrition, poor feeding or anorexia

  • Chronic illnesses including coeliac disease, inflammatory bowel disease, renal or cardiac disorders

  • Endocrine disorders such as growth hormone deficiency (evidenced by low growth velocity and delayed bone age), hypothyroidism, Turner syndrome, Prader-Willi syndrome and SHOX gene disorders

  • Psychosocial factors including stress, neglect and chronic emotional deprivation

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Investigations

• Blood tests

  • Full blood count, urea and electrolytes, comprehensive metabolic panel and liver function tests

  • Thyroid function tests and coeliac serology to exclude nutritional or endocrine causes

  • Insulin-like growth factor 1 (IGF-1) levels to assess GH status

• Bone age assessment

  • Wrist X-ray to compare bone age with chronological age and assess growth potential

• Growth velocity

  • Serial height measurements over at least 12 months (minimum three readings, spaced 3 months apart)

• Specialist evaluations

  • GH stimulation test if growth hormone deficiency is suspected

  • Chromosomal analysis (karyotyping) for conditions such as Turner syndrome

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Management

• Physiological causes (CDGP, familial short stature)

  • Reassure families and monitor growth and pubertal progression with regular follow-up

  • Consider short-course sex steroids if the delay causes significant distress

• Pathological causes

  • Address underlying nutritional deficiencies and chronic illnesses with appropriate dietary or medical therapy

  • Treat endocrine disorders with thyroxine replacement for hypothyroidism or initiate GH therapy for confirmed growth hormone deficiency under specialist guidance

• Referral criteria

  • Height below the 1st centile or crossing two or more centile lines downward

  • Significant deviation from mid-parental height

  • Delayed puberty with no breast development by 13 in girls or testicular volume <4 mL by 14 in boys

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Notes

• Most cases of short stature are due to constitutional delay; pathological causes account for only 10–15% of cases

• Interpretation of a child’s growth should always be contextualised with parental heights and family history

• Regular monitoring of growth velocity and bone age is essential to guide management

• Growth hormone therapy is available through specialist referral and is indicated for children with confirmed GH deficiency or other endocrine causes

• Early identification and treatment of underlying conditions optimise adult height and long-term health outcomes

• A multidisciplinary approach involving paediatric endocrinologists, gynaecologists and dietitians improves management of complex cases

• Psychosocial support and counselling are important, particularly when neglect or emotional stress contribute to growth impairment