Disease Description (Causes and Symptoms)
- Definition summary: A condition in which growth hormone (GH) secreted by the pituitary gland is not secreted sufficiently, resulting in reduced IGF‑1 production and impaired linear growth and metabolic function.
- Main causes: Congenital defects (abnormal pituitary development, genetic abnormalities), perinatal head injury, pituitary/hypothalamic tumors (e.g., pituitary tumors, craniopharyngioma), damage after surgery or radiation therapy, infections (meningitis, encephalitis), traumatic brain injury, inflammatory diseases, and sometimes an unknown cause (idiopathic).
- Pathophysiology summary: GH deficiency → decreased IGF‑1 in the liver → reduced cartilage growth (delayed bone age), decreased muscle mass, increased fat (especially abdominal fat), and metabolic abnormalities (dyslipidemia, insulin resistance), etc.
- Common symptoms/signs:
- Children: Height at or below the 3rd percentile or reduced growth velocity (annual growth <4 cm in children aged 3 years or older), delayed bone age, abdominal obesity with a prominent trunk, a youthful appearance (physical immaturity), fatigue and lethargy, and possible delayed puberty.
- Infants and young children: Hypoglycemia (especially during the neonatal period), and slight problems with weight gain.
- Adult GH deficiency: Fatigue, reduced muscle strength, increased body fat, low bone density, and reduced quality of life.
Treatment Methods and Precautions
- Standard treatment:
- Recombinant human growth hormone (rhGH) subcutaneous injections (generally administered daily, before bedtime). The dose is individualized according to age, weight, and cause (children: started within a dose range per kg or m2; adults: started at a low dose and adjusted based on IGF‑1).
- Treatment goals: For children, restoration of normal growth velocity and reaching final adult height; for adults, improvement of symptoms and metabolic indicators when deficiency has been confirmed.
- Essential evaluations before diagnosis and treatment:
- Bone age imaging, growth-rate records (over several years), blood IGF‑1, GH stimulation tests (insulin-induced, clonidine, arginine, glucagon, etc.), brain MRI (hypothalamus–pituitary), thyroid and adrenal function tests, and blood glucose and lipid tests.
- If other pituitary hormone deficiencies are present (especially cortisol or thyroid hormone deficiency), they must be corrected first.
- Monitoring and side effects:
- Regular monitoring: Growth velocity, height and weight, IGF‑1, blood glucose/HbA1c, lipids, thyroid function, hypertension, peripheral edema, headache, visual changes (when increased intracranial pressure is suspected), and injection-site problems.
- Possible complications/side effects requiring attention: Local edema, joint pain and muscle pain, headache, transient increased intraocular pressure (benign intracranial hypertension), slipped capital femoral epiphysis (SCFE, during growth), insulin resistance and hyperglycemia, and possible risk of tumor growth when an underlying active tumor is present.
- Contraindications/precautions: Active malignancy (cancer under treatment), caution in active dopamine-suppressive diseases, and restricted use during pregnancy.
- Other treatments:
- If a causative tumor is present, surgery, radiation therapy, and drug treatment (tumor-specific) may be combined.
- Lifestyle measures: Balanced nutrition, regular exercise (to improve muscle strength and bone density), and weight management.
Outpatient Visit Checklist (Including Examples of Items and Records to Prepare)
- Items/documents to prepare:
- List of medications currently being taken (including prescription drugs, over-the-counter drugs, and supplements)
- Growth records (past height and weight measurements, and pediatric visit records if available)
- Birth history and past medical history (complications at birth, history of head injury, severe infections, brain surgery, or radiation therapy)
- Parents’ heights (for calculating expected final height)
- Existing test results: Bone age images, blood tests (including IGF‑1), brain MRI, or previous hormone test results
- Useful symptom records for the outpatient visit:
- Height changes over the past 6–12 months (annual growth rate)
- Changes in fatigue or exercise capacity, appetite or weight changes, and pubertal development status
- Presence of headache, visual changes, or numbness in the limbs (when intracranial pressure or tumor symptoms are suspected)
Examples of General Questions to Ask the Doctor
- What are the expected side effects of this medication (growth hormone), and how should they be managed if they occur?
- What effects can we (my child/I) expect from treatment (such as expected final height or symptom improvement)?
- What tests should be performed during treatment, and how often? (e.g., IGF‑1, blood glucose, MRI, etc.)
- If there are accompanying hormone deficiencies (thyroid, adrenal, etc.), how will they be adjusted?
- What precautions should be taken regarding exercise or sports activities during treatment?
Examples of Disease-Specific Questions
- For children: "Considering the current growth velocity and bone age, what final height can be expected if treatment is started now (or how much additional growth can be gained through treatment)? How would delaying treatment affect its effectiveness?"
- Regarding imaging findings: "If a tumor (or abnormality) is found in the hypothalamus or pituitary on brain MRI, how would the treatment strategy (surgery vs. radiation therapy vs. medication or hormone therapy) differ?"