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Causes of Short Stature in Children

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Definition

Short stature is defined as a height more than two standard deviations below the mean for age (less than the 3rd percentile).

Phases of childhood growth

Infancy: Birth to 2-3 years: Fastest period of growth determined by nutrition
Childhood: Age 2-3 to Puberty: Determined by hormones. GH, T3/4, Insulin
Adolescent growth: onset of puberty to fusion of epiphyses. Determined by GH and Androgens/Oestrogens

Fusion of Epiphyses

Gradual process initiated by oestrogen from male adrenal and female ovaries
This controls the final height of the person

Growth Charts: Age X axis and Height is Y axis

Ensure you can plot the age/height of a child
RCPCH Girls 0-4
RCPCH Boys 0-4
RCPCH Girls 2-18
RCPCH Boys 2-18

Centiles

Centile lines show the expected range of weights and heights (or lengths).
Centiles are the number of children expected to be BELOW that line
50% of all children are below the 50th
91% of all children are below the 91st

Clinical

Initial evaluation of short and tall stature should include a history and physical examination, accurate serial measurements, and determination of growth velocity, midparental height, and bone age.
Dysmorphic characteristics suggest a genetic disorder
Midline defects suggest an abnormality of the growth hormone axis.
Inspection, measurements, manoeuvres, examination.

Midparental height

Girls : [Sum of Parental height (cm)] 2 - 7 cm
Boys : [Sum of Parental height (cm)] 2 + 7 cm
This calculation is not appropriate if either natural parent is not of normal stature.

Growth Velocity

Birth to 12 months: 23 to 27 cm (9.06 to 10.63 in)
12 months to 1 year: 10 to 14 cm (3.94 to 5.51 in)
2 to 3 years: 8 cm (3.15 in)
3 to 5 years: 7 cm (2.76 in)
5 years to puberty: 5 to 6 cm (1.97 to 2.36 in)
Puberty: Girls: 8 to 12 cm (3.15 to 4.72 in).
Puberty: Boys: 10 to 14 cm (3.94 to 5.51 in)

Bone age

Bone age should be compared with chronologic age to narrow the differential diagnosis of short stature.
Compare X ray of left wrist and hand to a database of norms, although various methods are now available
Children with normal variations of growth may have advanced or delayed bone age, but a bone age that is more than two standard deviations from the mean for age is likely due to a pathological condition

Common causes Short Stature

Cause	Clinical Features	Investigations	Management
Familial Short Stature	Short stature in the context of family history; normal growth velocity and puberty, bone age consistent with chronological age.	Growth charts, bone age assessment, review of family growth patterns, normal hormone levels.	Reassurance and monitoring; no treatment typically required.
Constitutional Delay of Growth and Puberty	Short stature with delayed puberty, often with a family history of similar pattern; normal growth velocity.	Growth charts, bone age (delayed but matches height age), normal hormone levels, normal nutritional status.	Reassurance and monitoring; growth usually normalizes with the onset of puberty.
Growth Hormone Deficiency	Proportionate short stature, increased fat mass, immature facial features, slow growth velocity, delayed bone age.	Serum IGF-1, growth hormone stimulation tests, MRI of the brain (to assess the pituitary gland), bone age assessment.	Growth hormone replacement therapy, regular monitoring of growth and development.
Turner Syndrome (45,X)	Short stature, webbed neck, lymphedema of hands/feet, widely spaced nipples, primary amenorrhea, infertility, and normal intelligence.	Karyotype analysis, echocardiogram, renal ultrasound, thyroid function tests, bone age assessment.	Growth hormone therapy, estrogen replacement therapy, management of associated conditions (e.g., cardiac, renal), psychological support.
Chronic Systemic Diseases (e.g., Celiac Disease, Chronic Kidney Disease)	Short stature with symptoms related to the underlying condition (e.g., diarrhoea in celiac disease, fatigue in chronic kidney disease).	Specific tests based on suspected condition (e.g., tissue transglutaminase antibodies for celiac disease, renal function tests, inflammatory markers), growth charts.	Treatment of the underlying disease, nutritional support, hormone therapy if indicated.
Hypothyroidism	Slow growth, delayed bone age, fatigue, weight gain, constipation, dry skin, bradycardia.	Serum TSH and free T4 levels, bone age assessment, thyroid ultrasound if nodules are suspected.	Thyroid hormone replacement therapy (levothyroxine), regular monitoring of growth and thyroid function.
Intrauterine Growth Restriction (IUGR) or Small for Gestational Age (SGA)	Low birth weight or length, often normal growth velocity postnatally but may result in permanent short stature.	Growth charts, birth history review, assessment for catch-up growth by age 2.	Monitoring of growth, growth hormone therapy if no catch-up growth by age 2-4, nutritional support.
Skeletal Dysplasias (e.g., Achondroplasia)	Disproportionate short stature, characteristic facial and skeletal features, normal intelligence.	Clinical genetic assessment, X-rays of the skeleton, genetic testing for specific mutations.	Supportive care, orthopedic management, genetic counseling, monitoring for complications.

Investigations for short stature

FBC, U&E, LFT, ESR, CRP
Follicle-stimulating hormone, karyotyping if possible Turner syndrome
Insulin like growth factor 1 if suspected Growth hormone deficiency
Thyroid-stimulating hormone, free thyroxine (T4) for Hypothyroidism
Tissue transglutaminase and total immunoglobulin A for Coeliac disease
Urinalysis: Renal disease

References

Evaluation of Short and Tall Stature in Children

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