Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
• Familial Short Stature
Normal Variant, Delayed Puberty Onset (BA < CA)
• Constitutional Short Stature (Late Bloomer)
Disproportionate
• Skeletal Dysplasias
• (e.g. Achondroplasia)
• Rickets
Dysmorphic Features
• Trisomy 21
• Noonan Syndrome
• Prader-Willi Syndrome
• Russell-Silver Syndrome
• Turner Syndrome
Deprivation
• Primary Malnutrition
• Psychosocial
• Deprivation
Endrocrine
• Cushing's Disease
• GH Deficiency
• IGF-I Deficiency (e.g. Laron Dwarfism)
• Hypothyroidism
• Congenital Adrenal Hyperplasia
• Panhypopituitarism
Treatment
• Glucocorticoids
• Radiation
• Chemotherapy
• Bone Marrow Transplant
Chronic Disease
• GI (e.g. Celiac, IBD)
• Renal (e.g. CRF)
• Infection (e.g. Chronic UTI)
• Cardiopulmonary (e.g. Cystic Fibrosis, CHF)
• Inborn Metabolism Error
• Immunologic
Other
• Intrauterine Growth Retardation
• Bulimia Nervosa
• Anorexia Nervosa
• CNS Tumors (e.g. Craniopharyngioma)
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