Evaluation of short stature

Diseases

Summary

Short stature is defined as a height that is 2 or more standard deviations (SD) below the mean for age and sex within a population (below the 2.5th percentile).

Growth deceleration is defined as a growth velocity that is below the 5th percentile for age and sex (e.g., <5 cm/year after the age of 5 years), or a height drop across 2 or more percentiles on the growth chart.

Epidemiology

In a US pediatric primary care population, 1.1% of all patients (2073 of 189,280 subjects; ages 0.5 to 20 years) had a height <-2.25 SD below the mean.[1] Short stature was associated with a history of prematurity, Medicaid insurance, and race/ethnicity. Males comprised the majority of growth hormone recipients for idiopathic short stature, despite no gender difference in prevalence of height (<-2.25 SD) being found.[1] Sex bias in referrals for poor growth evaluation has been reported previously.[2]

In England, approximately 2% of 4- to 5-year-olds are short for their age and sex; prevalence is highly associated with poverty.[3]

In a nationwide survey in China, short stature prevalence was 2.60% in developed, 3.72% in intermediately developed, and 4.69% in underdeveloped regions.[4] In resource-poor settings short stature is often a consequence of malnutrition.[5] [6]

Growth hormone deficiency (GHD) is a rare but important cause of short stature in children and adolescents. Pediatric GHD appears to vary widely; one systematic review of population-based epidemiologic studies reported a prevalence range of between 1/1107 and 1/8646.[7]

Normal growth

Factors determining normal growth depend on the child's age. An alteration in any of the factors can lead to growth failure.[8] [9] [10] [11]

Prenatal growth: the major determinants of fetal growth are uterine size, placental function, maternal nutrition, insulin, insulin-like growth factors (IGFs), and IGF-binding proteins (IGFBPs).
Postnatal growth: this is characterized by an initial rapid growth rate that declines progressively, reaching a plateau of about 5 to 7 cm/year between 3 years of age until puberty. Babies born large or small for their genetic potential will "channel" to their correct percentile in their first 2 years. Growth hormone, thyroid hormones, nutrition, and insulin play major roles at this time.
Pubertal growth: immediately prior to puberty, growth usually slows down ("prepubertal dip"), only to be followed by the pubertal growth spurt. Sex hormones exert important growth effects during puberty, in addition to other factors such as growth hormone, thyroid hormones, nutrition, and insulin. Girls have their growth spurt early in puberty. Boys experience their growth spurt toward the end of puberty and achieve greater height velocities than girls. This, combined with the fact that boys grow for approximately 2 years more than girls, explains the 13 cm (5 inches) difference in final heights between the sexes.

Library

The WHO and CDC growth charts
Familial short stature (TH target height)
Constitutional delay of growth and development (TH target height)
Severe growth hormone deficiency prior to treatment (TH target height)
Diagnostic algorithm of short stature
Craniopharyngioma: coronal postcontrast MRI

Citations

Key Articles

Wit JM, Kamp GA, Oostdijk W, et al. Towards a rational and efficient diagnostic approach in children referred for growth failure to the general paediatrician. Horm Res Paediatr. 2019;91(4):223-40.[Abstract][Full Text]
Cooke R, Goulet O, Huysentruyt K, et al. Catch-up growth in infants and young children with faltering growth: expert opinion to guide general clinicians. J Pediatr Gastroenterol Nutr. 2023 Jul 1;77(1):7-15.[Abstract][Full Text]
Cohen P, Rogol AD, Deal CL, et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab. 2008 Nov;93(11):4210-7.[Abstract][Full Text]
Bryant J, Baxter L, Cave CB, et al. Recombinant growth hormone for idiopathic short stature in children and adolescents. Cochrane Database Syst Rev. 2007 Jul 18;(3):CD004440.[Abstract][Full Text]

Other Online Resources

CDC: growth charts

Referenced Articles

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