1) Disease Description (Causes and Symptoms)
- Definition: A condition in which height is clearly smaller than that of peers of the same age and sex (generally at or below the 3rd percentile for standard height, or persistent growth delay on the growth curve).
- Main causes
- Familial (genetic) short stature; constitutional growth delay (a condition in which bone age is delayed, puberty and growth are delayed, and catch-up growth later leads to a normal adult height)
- Endocrine disorders: growth hormone deficiency, hypothyroidism, Cushing syndrome, etc.
- Chronic systemic diseases: chronic kidney disease, congenital heart disease, chronic gastrointestinal diseases (e.g., malabsorption, celiac disease)
- Chromosomal/genetic syndromes: Turner syndrome, Down syndrome, achondroplasia (osteochondrodysplasia), Prader-Willi syndrome, Russell-Silver syndrome, etc.
- Intrauterine growth restriction (low birth weight and short stature at birth), nutritional deficiencies, and fetal injury
- Rarely, disruption of the growth axis caused by brain tumors, intracranial lesions, etc.
- Summary of pathophysiology: Physical growth, particularly growth in the length of the long bones, is impaired due to abnormalities of the growth plates and bone age, defects in the GH–IGF axis, chromosomal or genetic defects, and growth suppression caused by chronic inflammation or nutritional deficiencies.
- Main symptoms and clinical signs
- Persistently reduced growth velocity (downward crossing of the growth curve)
- Short stature compared with peers, delayed bone age (constitutional growth delay), or disproportion such as shortened limbs (skeletal dysplasia)
- Delayed or incomplete onset of puberty (especially in Turner syndrome, etc.)
- Symptoms of systemic disease, such as chronic fatigue, frequent infections, and digestive problems, may also be present
- Diagnostic red flags: A rapid decrease in growth velocity, accompanying weight loss, apparent deformities, asymmetry, or abnormal body proportions, abnormalities in secondary sexual characteristics, and neurological symptoms (headache, visual disturbances), etc.
2) Treatment (Standard Treatment · Precautions · Complications · Self-Care)
- Basic principles: Identify and treat the underlying cause → provide growth-promoting treatment when recovery does not occur with treatment of the cause or when specific indications exist (e.g., growth hormone deficiency, Turner syndrome, chronic kidney disease)
- Drug treatment and procedures/surgery
- Growth hormone (GH) treatment: Used for growth hormone deficiency, Turner syndrome, chronic renal failure, and children born with low birth weight who have not achieved catch-up growth, among other conditions. For treatment to be effective, it should begin before closure of the growth plates (generally before ages 14–16 in girls), particularly in girls.
- Thyroid hormone replacement: When hypothyroidism is the cause
- Treatment of underlying diseases: Correction of chronic diseases (kidney, heart, and intestinal conditions), malnutrition, and malabsorption (e.g., celiac disease)
- Hereditary skeletal abnormalities: Conservative treatment is the main approach; in selected cases, limb-lengthening surgery (orthopedic treatment), etc., may be considered
- Lifestyle management (self-care)
- Adequate nutrition (sufficient calories, protein, and micronutrients), regular sleep, and moderate exercise (for weight management and bone health)
- Avoid smoking and alcohol (after adolescence), and manage stress
- Precautions and monitoring
- Regular assessment before and during treatment: Growth velocity, height and weight, bone age, IGF-1 (growth factor) levels, blood glucose and insulin resistance, signs of increased intracranial pressure, regular vision and neurological examinations, and brain MRI when necessary (when a central cause is suspected)
- Monitoring for growth hormone side effects: Headache and vomiting (idiopathic intracranial hypertension), edema, muscle pain, hyperglycemia and insulin resistance, and, rarely, patellar dislocation or avascular necrosis of the femoral head (caution during puberty)
- Complications and prognosis
- Complications: Complications of the underlying disease in cases with chronic disease, treatment-related complications (with hormone treatment), and psychosocial problems (self-esteem and social stress)
- Prognosis: Varies depending on the cause. In familial short stature and constitutional growth delay, final adult height often reaches the normal range. For pathological causes, prognosis improves with treatment of the cause and early intervention.
3) Checklist Before an Outpatient Visit (What to Bring · Items to Confirm During the Visit · Example Questions)
- What to bring
- Previous growth records (pediatric and adolescent growth charts, health record book), and height and weight records from the past 6–12 months
- Parents’ heights (exact numbers) and family history (short stature, genetic diseases, early menopause, etc.)
- A list of current medications and records of administration times and doses
- Previous test results (blood tests, bone-age X-rays, hormone tests, MRI, etc.)
- Brief notes on eating, sleeping, and exercise habits, and records of when symptoms began and how they have changed
- Items to confirm during the visit (key information the doctor will ask about)
- When did the growth curve begin to deviate? (When did the change in growth velocity occur?)
- Birth history (birth weight and gestational age), development during infancy, chronic diseases, or a history of frequent hospitalizations
- Timing and development of puberty (whether secondary sexual characteristics have begun)
- Whether anyone in the family has similar symptoms or a genetic disease
- Simple items to check yourself at home
- Record growth velocity over the past 6–12 months (e.g., annual height increase)
- Whether there have been changes in food intake or weight, or accompanying symptoms such as frequent indigestion, diarrhea, or fatigue
4) Examples of General Questions to Ask the Doctor
- "What do you think is causing my child’s short stature?"
- "What tests are needed, and what is the order of the tests and the reason for each?"
- "If growth hormone treatment is needed, what effect can we expect (what is the expected final height)?"
- "What are the side effects of growth hormone treatment, and what is the monitoring plan?"
- "Are there any lifestyle habits (nutrition or exercise) that we need to change immediately?"
- "How will the timing of treatment initiation and the stopping point (determination of growth plate closure) be decided?"
5) Examples of Disease-Specific Questions
- When growth hormone deficiency is suspected: "Do we need to undergo a growth hormone stimulation test? If the diagnosis is confirmed by the test, what increase in height can be expected and how long will treatment last?"
- When a chromosomal disorder or syndrome is suspected (e.g., suspected Turner syndrome in a girl): "Are there any additional tests you recommend besides chromosome and endocrine testing (such as heart, kidney, or hearing tests)?"