Growth retardation and short stature

Classification of causes of short stature

All etiological factors of growth retardation are divided into several basic groups:

• Genetic and physiological variants: constitutional delay and familial (hereditary) short stature.
• Secondary (somatogenic) disorders: develop against the background of severe chronic diseases of the respiratory and cardiovascular systems, GI tract, kidneys, and systemic connective tissue disorders.
• Genetic syndromes: chromosomal abnormalities (Turner syndrome, Noonan syndrome, Silver–Russell syndrome).
• Bone and cartilage disorders: various forms of chondrodysplasia (accompanied by disproportionate growth).
• Endocrine causes: hypothyroidism, isolated growth hormone (GH) deficiency (pituitary dwarfism), hypopituitarism.
• Non-endocrine causes: psychosocial delay (deprivation dwarfism) resulting from severe emotional or social deprivation.

Physiological normal variants

These conditions are not true diseases, but require proper monitoring.

Familial short stature is characterized by the child's growth curve running strictly parallel to the lower limit of the age norm. The metrics directly correlate with parental height, which is also at the lower limit (about 150–155 cm for mothers and 160–165 cm for fathers). The prognosis is favorable: the final adult height will correspond to the inherent genetic potential.

Constitutional growth delay is associated with individual, later onset of puberty. A transient lag behind peers occurs. As soon as puberty starts, a compensatory growth spurt takes place, and the patient's final height reaches normal. The difficulty lies in the fact that in the presence of short relatives, this form is difficult to distinguish from familial short stature.

Pathological forms: somatogenic and syndromic delay

In somatogenic delay, the growth curve has an undulating character. It depends on the activity of the underlying chronic disease and drug dosages. Disease manifestation and the prescription of glucocorticoids drastically flatten the growth curve. Achieving remission and reducing the steroid dose allow the pubertal spurt to occur.

Syndromic delay is a pathognomonic sign of a number of chromosomal abnormalities. A key diagnostic marker is the combination of short stature with typical dysmorphic stigmata. Unlike other forms, bone and cartilage pathologies (achondroplasia) cause disproportionate delay: isolated limb shortening with normal trunk size.

Endocrine causes of short stature

Hormonal disorders lead to specific manifestations:

• Hypothyroidism: thyroid hormone deficiency leads to physical growth retardation accompanied by psychomotor development delay.
• Pituitary pathology: congenital defects in hormone synthesis or acquired pituitary destruction (tumors, neurosurgical interventions, radiation therapy). Manifests as growth hormone deficiency (pituitary dwarfism).

Differential diagnosis using percentile curves

Analysis of growth charts (correlation of age, height, and standard deviations) allows for a visual presumptive diagnosis:

1. Congenital GH deficiency: the most severe and early delay; the curve drops deeply below –2.5 SD from the first years of life.
2. Acquired GH deficiency: initial normal growth is replaced by a sharp downward deviation of the curve after the action of a trigger (e.g., craniopharyngioma).
3. Turner syndrome: the curve initially runs along the lower limit of normal (or below), gradually and without spurts deviating from target values.
4. Precocious puberty: a sharp early spurt (as early as 4 years of age) caused by sex hormone secretion, which ends in early closure of growth plates and short stature in older age.

Class and exam questions

What else to study on this topic

• Assessment of bone age in pediatrics
• Turner syndrome: phenotype and treatment
• Craniopharyngioma as a cause of acquired GH deficiency
• Precocious puberty and closure of growth plates
• Achondroplasia: pathogenesis of disproportionate short stature

Other topics in the section «Chapter 11. Endocrine Diseases in Children»

Prepared by WhiteCoat Pro faculty in accordance with the medical school curriculum. For educational purposes only.