Causes of short stature

With delayed puberty

Constitutional / familial

• Systemic illness (e.g. asthma, malabsorption, celiac disease, cystic fibrosis, renal failure)

• Anorexia nervosa

• Excessive physical exercise

• Hypogonadism

• Turner’s syndrome in girls

• Another endocrine disease (e.g. Cushing’s syndrome, primary hypothyroidism, pseudohypoparathyroidism)

Without delayed puberty

• Isolated growth hormone deficiency

• Previous precocious puberty with the closure of epiphyses (e.g. congenital adrenal hyperplasia, histiocytosis X

• Prior problem restricting growth now resolved (e.g intrauterine growth restriction, congenital. heart disease)

Skeletal abnormality (e.g. achondroplasia,

INVESTIGATIONS

• Measure growth hormone.

Measure testosterone (in boys) and estradiol (in girls).

•FSH, LH

Thyroid function tests.

Screening for systemic disease such as renal and liver function tests.

Antigliadin and antimyosin antibodies for celiac disease.

X-ray wrist for bone age.

MANAGEMENT

• Management is effective before puberty ( before fusion of epiphysis).

• Hormone replacement if any deficiency.

• Small dose of estrogen in girls and testosterone in boys in case of constitutional puberty delay.