Evaluation of short stature

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]Grimberg A, Huerta-Saenz L, Grundmeier R, et al. Gender bias in U.S. pediatric growth hormone treatment. Sci Rep. 2015 Jun 9;5:11099. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650610 http://www.ncbi.nlm.nih.gov/pubmed/26057697?tool=bestpractice.com 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]Grimberg A, Huerta-Saenz L, Grundmeier R, et al. Gender bias in U.S. pediatric growth hormone treatment. Sci Rep. 2015 Jun 9;5:11099. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650610 http://www.ncbi.nlm.nih.gov/pubmed/26057697?tool=bestpractice.com Sex bias in referrals for poor growth evaluation has been reported previously.[2]Grimberg A, Kutikov J, Cucchiara A. Sex differences in patients referred for evaluation of poor growth. J Pediatr. 2005 Feb;146(2):212-6. http://www.ncbi.nlm.nih.gov/pubmed/15689911?tool=bestpractice.com

In England, approximately 2% of 4- to 5-year-olds are short for their age and sex; prevalence is highly associated with poverty.[3]Orr J, Freer J, Morris JK, et al. Regional differences in short stature in England between 2006 and 2019: a cross-sectional analysis from the National Child Measurement Programme. PLoS Med. 2021 Sep 28;18(9):e1003760. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8478195 http://www.ncbi.nlm.nih.gov/pubmed/34582440?tool=bestpractice.com ​​​

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]Ma J, Pei T, Dong F, et al. Spatial and demographic disparities in short stature among school children aged 7-18 years: a nation-wide survey in China, 2014. BMJ Open. 2019 Jul 16;9(7):e026634. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661596 http://www.ncbi.nlm.nih.gov/pubmed/31315860?tool=bestpractice.com In resource-poor settings short stature is often a consequence of malnutrition.[5]Yao WY, Yu YF, Li L, et al. Exposure to Chinese famine in early life and height across 2 generations: a longitudinal study based on the China Health and Nutrition Survey. Am J Clin Nutr. 2024 Feb;119(2):433-43. http://www.ncbi.nlm.nih.gov/pubmed/38309830?tool=bestpractice.com [6]Gao M, Wells JCK, Johnson W, et al. Socio-economic disparities in child-to-adolescent growth trajectories in China: findings from the China Health and Nutrition Survey 1991-2015. Lancet Reg Health West Pac. 2022 Feb 26;21:100399. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9079352 http://www.ncbi.nlm.nih.gov/pubmed/35540561?tool=bestpractice.com ​​​

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]Mameli C, Guadagni L, Orso M, et al. Epidemiology of growth hormone deficiency in children and adolescents: a systematic review. Endocrine. 2024 Mar 18. https://link.springer.com/article/10.1007/s12020-024-03778-4 http://www.ncbi.nlm.nih.gov/pubmed/38498128?tool=bestpractice.com

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]Lifshitz F (ed). Pediatric endocrinology. 5th ed. New York City, NY: Informa HealthCare; 2007.[9]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. https://karger.com/hrp/article/91/4/223/167204/Towards-a-Rational-and-Efficient-Diagnostic http://www.ncbi.nlm.nih.gov/pubmed/31195397?tool=bestpractice.com [10]Storr HL, Freer J, Child J, et al. Assessment of childhood short stature: a GP guide. Br J Gen Pract. 2023 Mar 30;73(729):184-6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049590 [11]American College of Obstetricians and Gynecologists' Committee on Practice Bulletins - Gynecology. ACOG practice bulletin no. 227: fetal growth restriction. Obstet Gynecol. 2021 Feb 1;137(2):e16-28. http://www.ncbi.nlm.nih.gov/pubmed/33481528?tool=bestpractice.com ​​​​

• 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.