OTC deficiency

Growth hormone deficiency (Growth hormone deficiency)

1) Disease description (causes and pathophysiology, main symptoms)

• Causes and pathophysiology
  • Occurs when growth hormone (GH), secreted by the anterior pituitary gland, is not secreted normally. It may be congenital (genetic defects or developmental abnormalities) or acquired (pituitary or hypothalamic tumors, head trauma, encephalitis or meningitis, radiation therapy, etc.).
  • GH deficiency causes decreased secretion of IGF-1 from the liver and affects bone growth (decreased activity of the growth plates in the long bones) and fat, carbohydrate, and protein metabolism.
• Main symptoms
  • Children: reduced growth velocity (e.g., annual growth <4 cm), short stature (possibly at or below the 3rd percentile for height), delayed bone age, abdominal obesity, low energy and fatigue, childlike appearance (young-looking skin), and delayed puberty.
  • Adults: decreased muscle mass, increased body fat (especially abdominal obesity), fatigue, reduced exercise tolerance, increased risk of osteoporosis, and reduced quality of life.

2) Treatment methods and precautions

• Standard treatment
  • Recombinant human growth hormone (somatropin) subcutaneous injection: unlike once-weekly administration, the standard is usually a small dose administered daily (before nighttime sleep). The doses and goals differ for children and adults.
    • Children: Start with a dose based on body weight or body surface area (general range example: 0.025–0.035 mg/kg/day; varies by institution). Adjust the dose based on growth velocity and IGF-1.
    • Adults: Start with a low dose and increase it based on IGF-1 and symptoms (generally individually adjusted within the range of 0.2–1.0 mg/day).
• Additional treatment
  • If the cause is a tumor (such as a pituitary tumor), surgery, radiation, or medication treatment for the tumor (e.g., dopamine agonists) may be considered.
  • Other accompanying pituitary hormone deficiencies (such as thyroid or adrenal hormone deficiencies) may need to be identified and treated with replacement therapy.
• Lifestyle management
  • Regular sleep (related to nighttime GH secretion), balanced nutrition, and appropriate physical activity are recommended.
• Monitoring and testing
  • During treatment, regularly monitor IGF-1 levels, growth velocity (children), blood glucose, lipids, thyroid function, bone mineral density (adults), and body composition.
  • Children: Evaluate every 3 months initially, then every 6 months to 1 year once stable. Adults also require periodic management after repeated initial testing.
• Precautions and contraindications
  • Treatment is contraindicated in the presence of active malignancy (due to concern that it may promote tumor growth). A history of malignancy requires specialist assessment.
  • Progressive abnormal intracranial pressure (immediate evaluation is needed if new headaches or visual disturbances occur).
  • Possible worsening of diabetes or insulin resistance → blood glucose monitoring is necessary.
  • Most patients are advised to discontinue treatment during pregnancy (consult a specialist).
• Side effects (main reported items)
  • Local reactions (at the injection site), edema and peripheral edema, joint pain and muscle pain, increased intracranial pressure (headache and visual disturbances), slipped capital femoral epiphysis (a growth plate problem, rarely in children), blood glucose abnormalities, and, rarely, changes in hyperlipidemia.
• Complications
  • If undiagnosed or untreated, children may have reduced final adult height, while adults may develop increased risk factors for osteoporosis and cardiovascular disease and reduced quality of life.

3) Outpatient visit checkpoints (items to prepare · records and example questions)

• Items/materials to prepare or bring
  • A list of medications currently or previously taken (including hormone preparations)
  • Copies of previous test results (blood tests, IGF-1, GH stimulation test results, brain/head MRI, bone age X-rays, etc.)
  • Growth charts (all previous growth records in the case of children), parents’ heights (needed to predict the genetic target height), and records of when symptoms began and how they have changed
  • Recent weight and height measurements and blood glucose and lipid test results (if available)
• Possible tests during an outpatient visit
  • IGF-1 testing, GH stimulation tests (insulin-induced hypoglycemia test, clonidine, arginine, glucagon, etc.), brain MRI (hypothalamus–pituitary), bone age imaging, and thyroid, adrenal, and gonadal function tests
• Items to self-check during an outpatient visit
  • Growth velocity over the past 6–12 months (children), presence of fatigue, weight changes, visual disturbances, or headaches, and history of previous treatment (radiation or surgery)

Example questions (for personal records)

• "How much have I grown in height over the past 12 months? (In cm)"
• "Have you recently experienced fatigue, headaches, or changes in vision?"

4) Examples of general questions to ask the doctor

• What are the expected benefits and side effects of this treatment?
• Would I (or my child) be a candidate for GH injection treatment? What changes can be expected after starting treatment (such as final height and metabolic improvement)?
• How often are tests and outpatient visits needed? Which tests need to be repeated?
• Are there any other accompanying hormone abnormalities? Is additional replacement therapy needed?
• In what situations should treatment be stopped (contraindications or emergency symptoms)?

5) Examples of disease-specific questions (1–2)

• Examples of questions tailored for children:
  • "Considering the current growth velocity and the parents’ heights, how much is the final adult height expected to increase if GH treatment is started?"
  • "How will the risk of growth plate problems (growth plate closure) or slipped capital femoral epiphysis caused by GH injections be monitored and prevented?"
• Examples of questions tailored for adults:
  • "When can improvements in body composition (muscle mass and body fat) and bone mineral density be expected after adult GH replacement, and how is the target IGF-1 range determined?"

Note: Diagnosis and treatment decisions are made by an endocrinologist based on a comprehensive assessment of clinical information (growth charts, IGF-1, GH stimulation tests, brain MRI, etc.). The above is a summary for general recommendations and informational purposes; please consult the attending physician for a final diagnosis and treatment tailored to the individual.