72  Growth Disorders

Published

July 12, 2025

72.1 Introduction

Growth is one of the most visible and sensitive indicators of a child’s health and overall well-being. In paediatrics, monitoring growth is an essential part of clinical care, as deviations from normal patterns often signal underlying disease, malnutrition, or hormonal imbalance.

A growth disorder refers to any condition that results in abnormal stature or growth velocity compared with reference standards for age and sex. These disorders may present as short stature, tall stature, or abnormal growth velocity, and they can have endocrine, genetic, systemic, or nutritional causes.

In Ghana and much of sub-Saharan Africa, poor nutrition, chronic infections, and delayed recognition of endocrine disorders remain major contributors to abnormal growth. The limited availability of specialized diagnostic tests often necessitates a pragmatic, clinically guided approach.

72.2 Normal Growth Physiology

Normal growth is influenced by the complex interplay between genetic, nutritional, hormonal, and environmental factors. The main hormones involved are:

  1. Growth Hormone (GH): Secreted by the anterior pituitary in a pulsatile manner, stimulating hepatic production of insulin-like growth factor 1 (IGF-1).
  2. IGF-1 and IGFBP-3: Mediate the growth-promoting effects of GH at the tissue level.
  3. Thyroid hormones: Essential for normal bone maturation and growth velocity.
  4. Sex steroids (estrogen and testosterone): Promote pubertal growth spurt and epiphyseal closure.
  5. Cortisol: In excess, inhibits growth.
  6. Insulin: Promotes growth through anabolic effects.

72.2.0.1 Phases of Growth

  1. Infancy (0–2 years): Rapid growth, largely nutrition-dependent.
  2. Childhood (2 years–puberty): Steady growth, GH-dependent.
  3. Pubertal phase: Growth acceleration due to synergistic effects of GH and sex steroids.

72.3 Assessment of Growth

A systematic approach to growth assessment is essential for early recognition of abnormalities.

72.3.1 Measurement Techniques

  • Height: Using a stadiometer (standing) or length board (infants).

  • Weight: Calibrated scale.

  • Head circumference: For children <5 years.

  • Mid-parental height (MPH): Estimate of genetic potential.

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72.3.2 Growth Charts

  • Use WHO or CDC growth charts.
  • Plot serial measurements to determine growth velocity.
  • Identify crossing of centiles, which is more significant than a single low value.

72.3.3 Bone Age Assessment

  • X-ray of the left hand and wrist compared to Greulich and Pyle standards.
  • Bone age lags behind chronological age in endocrine causes, but is usually normal in familial short stature.

72.3.4 Pubertal Assessment

  • Tanner staging for breast, genital, and pubic hair development.
  • Pubertal timing provides clues to underlying endocrine abnormalities.

72.4 Classification of Growth Disorders

Growth disorders can be broadly classified as:

  1. Short stature: Height below the 3rd percentile or >2 standard deviations (SD) below mean for age and sex.
  2. Tall stature: Height above the 97th percentile or >2 SD above mean.
  3. Abnormal growth velocity: Deviation from expected rate for age.

This chapter focuses on short stature, the commonest concern in paediatric endocrinology.

72.5 Short Stature

72.5.1 Aetiological Classification

Category Example Disorders Key Features
Normal variants Familial short stature, constitutional growth delay Normal bone age or delayed bone age with normal growth velocity
Endocrine causes Growth hormone deficiency, hypothyroidism, Cushing’s syndrome Decreased growth velocity, delayed bone age
Chronic systemic disease Renal, cardiac, hepatic disease, malnutrition Poor weight gain precedes height faltering
Genetic and skeletal disorders Turner syndrome, achondroplasia Dysmorphic features, disproportionate body segments
Psychosocial deprivation Neglect, chronic stress Variable catch-up growth when environment improves

72.6 Endocrine Causes of Short Stature

72.6.1 Growth Hormone Deficiency (GHD)

72.6.1.1 Definition

Deficiency of GH secretion, either isolated or as part of multiple pituitary hormone deficiencies.

72.6.1.2 Causes

  • Congenital: Pituitary hypoplasia, midline defects, genetic mutations.
  • Acquired: Brain tumours (craniopharyngioma), head trauma, CNS infections (meningitis, tuberculosis), irradiation.

72.6.1.3 Clinical Features

  • Normal birth size.
  • Progressive deviation from growth curve after 6 months.
  • Chubby face, truncal adiposity.
  • Delayed dentition, bone age, and puberty.
  • Often normal intelligence.

72.6.1.4 Investigations

  • Serum IGF-1 and IGFBP-3: Screening tests (low in GHD).
  • GH stimulation tests: Using insulin, clonidine, or glucagon (confirmatory).
  • MRI brain: Evaluate pituitary and hypothalamus.
  • Other pituitary hormones: TSH, ACTH, gonadotropins.

72.6.1.5 Management

  • Recombinant GH therapy (0.03–0.05 mg/kg/day SC).
  • Monitor growth velocity and bone age.
  • Address underlying cause if secondary.

72.6.1.6 Ghanaian Context

GH assays and stimulation tests are limited to a few tertiary centres (e.g., KATH, KBTH). Empirical diagnosis is sometimes supported by clinical features and low IGF-1, if available.

72.6.2 Hypothyroidism

72.6.2.1 Pathophysiology

Deficiency of thyroid hormones impairs bone maturation, metabolism, and growth.

72.6.2.2 Clinical Features

  • Growth failure with delayed bone age.
  • Puffy face, coarse hair, dry skin.
  • Bradycardia, constipation, lethargy.
  • Delayed puberty.

72.6.2.3 Diagnosis

  • Low free T4, high TSH (primary hypothyroidism).
  • Low T4, low TSH (secondary hypothyroidism).

72.6.2.4 Management

  • Lifelong levothyroxine replacement (10–15 µg/kg/day).
  • Monitor TSH and growth response.

72.6.2.5 Local Note

In Ghana, neonatal screening for congenital hypothyroidism is not yet universal, so cases may present late with severe growth retardation and cognitive impairment.

72.6.3 Cushing’s Syndrome

72.6.3.1 Definition

Chronic exposure to excess glucocorticoids (endogenous or exogenous).

72.6.3.2 Clinical Features

  • Growth failure with weight gain (hallmark).
  • Moon face, truncal obesity, striae, hypertension.
  • Proximal muscle weakness.

72.6.3.3 Causes

  • Prolonged steroid therapy (commonest in Ghana).
  • Adrenal or pituitary tumours (rare).

72.6.3.4 Management

  • Taper and discontinue exogenous steroids where possible.
  • Treat underlying pathology surgically or medically.

72.7 Non-Endocrine Causes

72.7.1 Chronic Systemic Illness

Chronic diseases such as renal failure, cyanotic congenital heart disease, inflammatory bowel disease, and sickle cell anaemia impair growth.

72.7.1.1 Mechanisms

  • Nutritional deficits.
  • Increased energy demands.
  • Cytokine-mediated suppression of GH/IGF axis.

72.7.1.2 Management

  • Optimize control of the primary disease.
  • Nutritional rehabilitation.

72.7.2 Malnutrition

A leading cause of growth retardation in Ghana.
- Kwashiorkor and marasmus lead to stunting and wasting.
- Linear growth improves only after prolonged nutritional rehabilitation.
- Differentiation from endocrine short stature: low weight-for-height and normal bone age.

72.8 Genetic and Skeletal Dysplasias

72.8.0.1 Turner Syndrome (45,X)

  • Short stature, webbed neck, shield chest.
  • Gonadal dysgenesis (streak ovaries).
  • Coarctation of aorta, renal anomalies.

Diagnosis: Karyotype confirmation.
Management: GH therapy, estrogen replacement, cardiac and renal monitoring.

72.8.0.2 Achondroplasia

  • Disproportionate short stature.
  • Short limbs, large head, normal intelligence.
  • Autosomal dominant FGFR3 mutation.

72.9 Tall Stature

Although less common, tall stature may also warrant evaluation.

72.9.1 Causes

  1. Familial tall stature: Normal growth velocity, normal bone age.
  2. Endocrine: GH excess (gigantism), precocious puberty, hyperthyroidism.
  3. Genetic: Marfan syndrome, Klinefelter syndrome.
  4. Obesity: Early growth acceleration with premature epiphyseal closure.

72.9.1.1 Investigations

  • Bone age.
  • GH and IGF-1 levels.
  • Karyotype (for Klinefelter’s).
  • Echocardiography (for Marfan’s).

72.9.1.2 Management

  • Treat underlying endocrine cause.
  • Psychosocial support for body image issues.

72.10 Growth Hormone Therapy: Principles and Monitoring

72.10.0.1 Indications

  • GH deficiency.
  • Turner syndrome.
  • Chronic renal failure.
  • Small for gestational age without catch-up by age 2 years.
  • Idiopathic short stature (in selected cases).

72.10.0.2 Administration

  • Daily subcutaneous injection at night.
  • Dose: 0.03–0.05 mg/kg/day.

72.10.0.3 Monitoring

  • Growth velocity (every 6 months).
  • Bone age (yearly).
  • IGF-1 levels (to guide dosing).
  • Adverse effects: pseudotumor cerebri, slipped capital femoral epiphysis, glucose intolerance.

72.10.0.4 Cost and Accessibility in Ghana

GH therapy is expensive (≈GHS 1500–2500/month) and rarely covered by national health insurance, limiting access to selected tertiary hospitals. Efforts are ongoing to improve subsidization for paediatric endocrine conditions.

72.11 Approach to a Child with Short Stature

  1. Confirm true short stature (plot on chart).
  2. Assess growth velocity (serial measurements).
  3. Evaluate mid-parental height.
  4. Assess for dysmorphism or disproportion.
  5. Investigate based on findings:
Step Key Tests Purpose
Screening CBC, ESR, renal & liver function Rule out systemic disease
Endocrine TSH, free T4, IGF-1 Identify hypothyroidism or GHD
Bone Age X-ray left hand Assess growth potential
Genetic Karyotype (girls) Detect Turner syndrome
Imaging MRI brain Assess pituitary or hypothalamus

72.12 Psychosocial and Public Health Aspects

  • Psychological impact: Children with growth disorders often face teasing, low self-esteem, and academic difficulties.
  • Parental counselling: Important to distinguish between benign and pathological causes.
  • Community education: Emphasize routine growth monitoring at child welfare clinics.
  • Policy direction: Advocacy for national newborn screening and early endocrine referral networks.

72.13 Key Takeaways

  • Growth disorders are common indicators of underlying systemic or endocrine disease.
  • Accurate measurement and serial growth plotting are crucial diagnostic steps.
  • Endocrine causes typically have delayed bone age with preserved weight.
  • In Ghana, nutritional and chronic disease-related growth failure remain prevalent, but endocrine causes should be considered early.
  • Early referral to specialized centres can improve long-term outcomes.

72.14 Further Reading

  1. Sperling MA. Pediatric Endocrinology, 5th ed. Elsevier, 2021.
  2. Brook CGD, Clayton PE, Brown RS. Brook’s Clinical Pediatric Endocrinology, 8th ed. Wiley-Blackwell, 2023.
  3. De Onis M et al. WHO Child Growth Standards: Methods and Development. Geneva: WHO, 2006.
  4. Osei K, et al. “Endocrine causes of short stature in sub-Saharan Africa: a diagnostic challenge.” Ghana Med J, 2018.
  5. West African College of Physicians (WACP). Curriculum for Paediatric Endocrinology, 2024.