Summary
Tall stature is defined as a height of more than 2 standard deviations (SDs) above the population mean or exceeding the 97th percentile for age and sex. Most tall stature is due to physiological causes (e.g., familial tall stature, constitutional advancement of growth). However, tall stature can also be caused by an underlying endocrine or genetic condition. The clinical evaluation of tall stature includes a thorough medical history (including developmental history and family history), an assessment of pediatric growth and growth velocity, and identification of signs of puberty or dysmorphic features. Diagnostics include a determination of bone age in all children. If an endocrine or genetic cause is suspected, a referral to a pediatric specialist is recommended for additional studies (e.g., hormonal and/or genetic studies) and/or management. In tall stature due to physiological causes, management is limited to reassurance and regular growth monitoring.
Etiology
Physiological causes [1][2]
- Familial tall stature
- Constitutional advancement of growth
Endocrine causes [1][2]
- Obesity
- Precocious puberty
- Hyperthyroidism
- Growth hormone excess (e.g., pituitary gigantism)
Genetic causes [1][2]
- Chromosomal abnormalities, e.g.:
- Fragile X syndrome
- Marfan syndrome
-
Overgrowth syndromes, e.g.:
- Beckwith-Wiedemann syndrome
- Sotos syndrome (cerebral gigantism)
- Weaver syndrome
- Proteus syndrome
- Primary male hypogonadism [3][4]
- Homocystinuria
- Estrogen deficiency (e.g., due to aromatase deficiency) or resistance [5]
- Androgen insensitivity
- Familial glucocorticoid deficiency [5]
Clinical evaluation
Focused history [2][3]
- Onset: recent accelerated growth [3]
-
Developmental history
- Delay in developmental milestones
- Early or precocious puberty
-
Associated signs and symptoms
- Signs of hyperthyroidism
- Signs of mass effect from a pituitary adenoma (e.g., headaches and vision changes)
-
Family history
- Tall stature
- Genetic disorders and associated findings
- Endocrine disorders (e.g., Graves disease)
In tall children whose height is within the expected range, in addition to physiological causes, consider undiagnosed underlying familial conditions (e.g., Marfan syndrome). [3]
Focused physical examination [1][2][3]
-
Growth assessment
- Standard pediatric growth assessment, including:
- Growth parameters (e.g., length, height, weight, head circumference) plotted on appropriate growth charts
- Midparental height calculation
- Growth velocity
- Standard pediatric growth assessment, including:
-
General physical examination
- Secondary sexual characteristics: for evidence of early or precocious puberty
- Proportionality assessment (e.g., arm span, sitting vs. standing height)
- Thyroid examination
- Dysmorphic features
Diagnostics
- All patients: bone age [1][3]
-
Select patients: Refer to a pediatric specialist (e.g., endocrinology, genetics) for additional diagnostic studies. [1][2]
-
Endocrine laboratory tests, e.g.:
- Thyroid function tests
- FSH, LH, testosterone (boys), estradiol (girls): for precocious puberty
- Hyperglycemia tests [1]
- Insulin-like growth factor 1: for suspected gigantism
- Genetic studies (e.g., karyotyping)
- MRI brain: for suspected pituitary adenoma
-
Endocrine laboratory tests, e.g.:
Common causes
Physiological and endocrine causes
Common physiological and endocrine causes of tall stature [1] | |||
---|---|---|---|
Condition | Characteristic clinical features | Diagnostic findings | Management |
Familial tall stature |
|
|
|
Constitutional advancement of growth |
|
|
|
Obesity |
|
|
|
Precocious puberty [6] |
|
|
|
Hyperthyroidism |
|
|
|
Pituitary gigantism [7] |
|
|
|
Genetic causes
Common genetic causes of tall stature | ||||
---|---|---|---|---|
Condition | Characteristic clinical features | Diagnostic findings | Management | |
Sex chromosome aneuploidy [2][8] | Klinefelter syndrome [9] |
|
|
|
47,XYY syndrome or 47,XXX syndrome |
|
| ||
Fragile X syndrome [10] |
|
|
| |
Marfan syndrome [11] |
|
|
| |
Homocystinuria [12] |
|
| ||
Overgrowth syndromes | Beckwith-Wiedemann syndrome [13] |
|
| |
Sotos syndrome [14][15] |
|
| ||
Weaver syndrome [14] |
|
|
Management
- For isolated tall stature (e.g., due to familial tall stature), provide reassurance; treatment is not usually indicated. [1]
- Refer to a pediatric specialist (e.g., endocrinology, genetics) for: [1]
- Management of underlying etiology
- Possible height-reducing interventions with shared decision-making [1][2]
- Medical therapy with estradiol or testosterone to facilitate closure of epiphyses
- Epiphysiodesis is rarely indicated.