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Possible Causes:
1. Normal Variants (Non-pathological)
- Constitutional Growth Delay (CGD) – Family history of late bloomers, normal final height.
- Familial Short Stature (FSS) – Parents are also short, normal growth velocity.
2. Endocrine Causes
- Growth Hormone Deficiency (GHD) – Proportionate short stature, low IGF-1.
- Hypothyroidism – Weight gain, fatigue, constipation, delayed bone age.
- Cushing’s Syndrome – Truncal obesity, moon facies, striae.
- Turner Syndrome (45,XO) – Webbed neck, shield chest, lymphedema.
- Hypopituitarism – Multiple pituitary hormone deficiencies.
- Polycystic Ovary Syndrome (PCOS) – Hirsutism, obesity (rare at this age).
3. Chronic Systemic Diseases
- Chronic Kidney Disease (CKD) – Poor appetite, anemia, metabolic acidosis.
- Celiac Disease – Diarrhea, bloating, iron deficiency anemia.
- Inflammatory Bowel Disease (IBD) – Chronic diarrhea, weight loss.
- Congenital Heart Disease (CHD) – Cyanosis, exercise intolerance.
4. Genetic & Syndromic Causes
- Turner Syndrome – Most common cause of short stature in females.
- Noonan Syndrome – Pulmonary stenosis, distinctive facies.
- Russell-Silver Syndrome – Asymmetry, triangular face.
- Prader-Willi Syndrome – Hypotonia, obesity, hyperphagia.
5. Nutritional Deficiencies & Environmental Causes
- Malnutrition – Poor weight gain, vitamin deficiencies.
- Psychosocial Deprivation (Neglect/Abuse) – Growth delay due to stress.
Approach to Diagnosis:
Step 1: History
- Birth history: Small for gestational age (SGA), neonatal hypoglycemia.
- Family history: Parental heights, puberty timing.
- Dietary history: Malnutrition, celiac triggers.
- Systemic symptoms: GI (diarrhea, constipation), urinary (polyuria, proteinuria).
Step 2: Physical Examination
- Height, weight, growth velocity – Compare with percentiles.
- Mid-parental height – Predict genetic potential.
- Pubertal staging (Tanner Staging) – Identify pubertal delay.
- Dysmorphic features – Webbed neck, short 4th metacarpal (Turner).
Step 3: Investigations
- Bone Age X-ray (Left Hand & Wrist) – Delayed in endocrine, normal in FSS.
- Hormonal Profile:
- TSH, Free T4 – Hypothyroidism.
- IGF-1, GH stimulation test – GH deficiency.
- FSH, LH, Estradiol – Hypogonadism.
- Morning Cortisol, ACTH – Cushing’s syndrome.
- Karyotyping (45,XO) – Turner Syndrome.
- Other Tests:
- Tissue Transglutaminase IgA – Celiac disease.
- Serum Creatinine, Electrolytes – CKD.
- CBC, CRP, ESR – IBD.
Management:
- Constitutional Growth Delay (CGD) → Reassurance, monitoring.
- Familial Short Stature (FSS) → Reassurance, no treatment needed.
- Turner Syndrome → Growth hormone therapy, estrogen replacement at puberty.
- Hypothyroidism → Levothyroxine.
- Growth Hormone Deficiency → Recombinant GH therapy.
- Celiac Disease → Gluten-free diet.
- CKD → Renal management, erythropoietin.
- Psychosocial Deprivation → Address social factors.
Key Takeaways:
- Bone age is the first-line investigation to differentiate delayed puberty causes.
- Turner syndrome must be ruled out in any short female with delayed puberty.
- Management depends on the underlying cause, with early intervention improving outcomes.
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