Definition

Height of two or more standard deviations below the mean for age and gender.

Factors determining normal growth

• Antenatal determinants like uterine size, placental function, maternal nutrition, insulin, insulin-like growth factors
• Postnatal determinants like Growth hormone, thyroid hormones, nutrition, and insulin
• Pubertal growth factors like Sex hormones, growth hormone, thyroid hormones, nutrition, and insulin.
• Familial short stature (genetic short stature)

Etiology of short stature

Familial short stature

• Normal length at birth.
• There is decreased growth in between 6 months to 18 months and then followed by slow growth. Final height is reached appropriate for target height.
• Puberty and bone age are not delayed, and patients are proportionate.

Constitutional delay of growth and development

• Growth slows down in the first 2 years then picks up leading to final height close to target height.
• Patients have a delayed bone age and delayed pubertal development.
• Differential diagnosis includes GH deficiency, chronic illness, and hypogonadism

Endocrine cause

• GH deficiency
• Hypothyroidism
• Cushing syndrome
• GH insensitivity (Laron syndrome)

Genetic syndromes

• Turner syndrome
• Noonan syndrome
• Russell-Silver syndrome
• Trisomy 21
• Prader-Willi syndrome
• Chromosome 22 abnormality, also called velocardiofacial syndrome

Chronic illness

• Chronic heart disease / Asthma/ Cystic fibrosis
• Coeliac disease/ Inflammatory bowel disease
• Juvenile idiopathic arthritis
• Chronic renal failure/ Renal tubular acidosis
• Poorly controlled diabetes mellitus

Musculoskeletal cause

• Skeletal dysplasias
• Rickets
• Spinal disorders

Psychosocial cause

• Psychosocial deprivation
• Eating disorders
• Fetal alcohol syndrome

Iatrogenic

Target height

• Girl = ([height of mother in inches + height of father in inches]/2) – 2.5 inches
• Boy = ([height of mother in inches + height of father in inches]/2) + 2.5 inches.

Clinical features

• Dysmorphism
• Puberty measurement
• Bone age measurement

Investigations

• FBC & ESR
• Complete metabolic profile
• Coeliac screening
• Urine analysis
• Thyroid function tests
• Insulin-like growth factor 1 (IGF-1) and IGF-binding protein 3 (IGFBP-3) to screen for GH deficiency
• Karyotype.
• GH stimulation tests
• Diurnal cortisol levels, urinary cortisol levels
• X-ray wrist and vitamin D levels