Growth Hormone Deficiency and Hypothyroidism in Children Complete Guide Causes Symptoms Diagnosis Treatment
Paediatrics

Growth Hormone Deficiency and Hypothyroidism in Children Complete Guide Causes Symptoms Diagnosis Treatment

Here is a concise but complete pediatric reference on Growth Hormone Deficiency (GHD) and Hypothyroidism (as per your requested structured format, no images):


1. Growth Hormone Deficiency (GHD) – Pediatrics

Definition

A disorder characterized by insufficient secretion of growth hormone (GH) from the anterior pituitary leading to impaired linear growth and short stature.


Pathophysiology

  • GH → stimulates liver → IGF-1 (Somatomedin C) production
  • IGF-1 → promotes epiphyseal growth (long bones)
  • Deficiency → ↓ chondrocyte proliferation → reduced height velocity
  • Also affects metabolism:

* ↓ lipolysis → ↑ fat

* ↓ protein synthesis → ↓ muscle mass


Causes / Triggers

Congenital

  • Pituitary hypoplasia/aplasia
  • Genetic mutations (GH1, GHRHR)
  • Midline defects (cleft palate, septo-optic dysplasia)

Acquired

  • Brain tumors (craniopharyngioma)
  • CNS infections
  • Trauma
  • Irradiation

Idiopathic

  • Most common

Clinical Features

Infants

  • Hypoglycemia
  • Prolonged jaundice
  • Micropenis (boys)

Children

  • Short stature (<3rd percentile)
  • Decreased growth velocity
  • Delayed bone age
  • Increased fat (truncal obesity)
  • Immature face (“doll-like”)
  • Delayed puberty

Investigations / Diagnosis

  • Growth chart: low height velocity
  • Bone age X-ray (left wrist): delayed
  • Serum IGF-1, IGFBP-3: low
  • GH stimulation tests (gold standard)

* Insulin tolerance test

* Clonidine / arginine test

  • MRI brain: pituitary abnormalities

Differential Diagnosis

  • Familial short stature
  • Constitutional delay
  • Hypothyroidism
  • Chronic systemic disease
  • Turner syndrome

Management (Stepwise)

1. Recombinant GH therapy

Drug: Somatropin

  • Indication: confirmed GHD
  • Dose:

* 0.025–0.035 mg/kg/day SC (daily, evening)

  • Mechanism: replaces GH → ↑ IGF-1 → bone growth
  • PK: SC, short half-life, acts via IGF-1
  • Adverse Effects

* Intracranial hypertension

* Slipped capital femoral epiphysis

* Edema, arthralgia

  • Contraindications

* Active malignancy

  • Monitoring

* Growth velocity

* IGF-1 levels

* Thyroid function

  • Counselling

* Daily injections needed

* Early treatment → better outcomes


2. Treat underlying cause

  • Tumor → surgery
  • Hormone deficiencies → replace

Non-Pharmacological

  • Nutrition optimization
  • Psychosocial support


2. Hypothyroidism – Pediatrics

Definition

Deficiency of thyroid hormone (T3/T4) leading to impaired growth, neurodevelopment, and metabolism.


Pathophysiology

  • Thyroid hormone regulates:

* Brain development

* Bone maturation

* Metabolism

  • Deficiency →

* ↓ metabolic rate

* ↓ protein synthesis

* Irreversible intellectual disability (if untreated early)


Causes

Congenital Hypothyroidism

  • Thyroid dysgenesis (agenesis, ectopia) – most common
  • Dyshormonogenesis
  • TSH receptor defects

Acquired Hypothyroidism

  • Autoimmune (Hashimoto thyroiditis) – most common in older children
  • Iodine deficiency
  • Drugs (lithium, amiodarone)
  • Post-thyroid surgery/radiation

Clinical Features

Neonates (often subtle early)

  • Prolonged jaundice
  • Constipation
  • Poor feeding
  • Hypotonia
  • Large tongue (macroglossia)
  • Umbilical hernia

Older children

  • Short stature
  • Weight gain
  • Fatigue
  • Cold intolerance
  • Dry skin
  • Delayed puberty
  • Poor school performance

Investigations / Diagnosis

  • TSH ↑, T4 ↓ (primary hypothyroidism)
  • Newborn screening (TSH)
  • Thyroid antibodies (anti-TPO)
  • Thyroid scan (if needed)
  • Bone age: delayed

Differential Diagnosis

  • GHD
  • Chronic illness
  • Cushing syndrome
  • Malnutrition

Management (Stepwise)

1. Thyroid Hormone Replacement

Drug: Levothyroxine

  • Indication: all hypothyroid children

Dose

  • Neonates: 10–15 mcg/kg/day
  • Infants: 6–8 mcg/kg/day
  • Children: 2–5 mcg/kg/day

Mechanism

  • Synthetic T4 → converted to T3 → restores metabolism

Pharmacokinetics

  • Oral absorption (best empty stomach)
  • Long half-life (~7 days)

Adverse Effects

  • Overdose → hyperthyroidism symptoms:

* Tachycardia

* Irritability

* Weight loss

Contraindications

  • Untreated adrenal insufficiency (relative)

Drug Interactions

  • Iron, calcium ↓ absorption
  • Antiepileptics ↑ metabolism

Monitoring

  • TSH, T4 every:

* 2–4 weeks (initial)

* Then every 3–6 months

Counselling

  • Give on empty stomach
  • Lifelong therapy (most cases)
  • Early treatment prevents intellectual disability

2. Early treatment in neonates

  • Start within first 2 weeks of life
  • Prevents cretinism (severe neurodevelopmental delay)

Non-Pharmacological

  • Adequate iodine intake
  • Growth and development monitoring

Key Comparison (Exam Quick Table)

| Feature | GHD | Hypothyroidism |

| --------------- | ------------- | -------------- |

| Growth velocity | ↓↓↓ | ↓ |

| Weight | Normal/↑ fat | ↑ |

| Bone age | Delayed | Delayed |

| IQ | Normal | ↓ if untreated |

| Hormone defect | GH | T3/T4 |

| Treatment | GH injections | Levothyroxine |


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Frequently Asked Questions

Growth hormone deficiency is a condition where the pituitary gland produces insufficient growth hormone, leading to reduced growth velocity, short stature, delayed bone age, and increased body fat.
Causes include congenital defects like pituitary hypoplasia, genetic mutations, and midline defects, as well as acquired causes such as brain tumors, cranial irradiation, trauma, and infections. Many cases are idiopathic.
Diagnosis involves growth chart assessment, delayed bone age on X-ray, low IGF-1 levels, and confirmation with growth hormone stimulation tests such as insulin tolerance or clonidine test.
Treatment is recombinant growth hormone (somatropin) given as daily subcutaneous injections, with dose adjustment based on growth response and IGF-1 levels.
Complications include intracranial hypertension, slipped capital femoral epiphysis, edema, arthralgia, and rarely glucose intolerance.
Congenital hypothyroidism is a condition present at birth where the thyroid gland is absent, underdeveloped, or unable to produce adequate thyroid hormone, leading to impaired growth and brain development.
Symptoms include short stature, weight gain, fatigue, constipation, cold intolerance, dry skin, delayed puberty, and poor school performance. In neonates, signs include prolonged jaundice and macroglossia.
Diagnosis is based on elevated TSH and low T4 levels in primary hypothyroidism, along with thyroid antibody testing and newborn screening programs.
Treatment is levothyroxine replacement therapy, given orally with dosing adjusted according to age and regular monitoring of TSH and T4 levels.
Early treatment within the first 2 weeks of life prevents irreversible intellectual disability and ensures normal growth and neurodevelopment.
Both cause short stature and delayed bone age, but hypothyroidism typically presents with weight gain and cognitive impairment, while growth hormone deficiency usually has normal intelligence and increased fat mass.
IGF-1 (insulin-like growth factor 1) is produced in the liver in response to growth hormone and mediates most of the growth-promoting effects on bones and tissues.
Newborn screening detects elevated TSH early, allowing prompt treatment before symptoms develop, preventing cretinism and developmental delay.
Yes, untreated hypothyroidism, especially congenital, can lead to irreversible intellectual disability due to impaired brain development.
Iron, calcium, soy products, and certain medications reduce levothyroxine absorption and should be taken at different times.