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Short Stature

Short stature is a term that is used to describe people whose height is considerably below average compared to the height of their peers. This term can apply to adults, but it is more commonly used to refer to children. [1] Some children can be significantly shorter than their friends and it can be perfectly healthy. This is usually true if both parents are also shorter than average. The major determinant of height is genetics. But, there are some cases when short stature can indicate an underlying medical problem.

Short stature
Short stature

In other cases, children can grow to a normal height with proper treatment. But, for some children, short stature can be permanent. Your child’s doctor will measure the height of your child and then refer to a grow chart. This chart is showing the average height of other children of the same sex and age. It is known that the assessment of height will vary depending on the population your child is from and the exact cutoff points can vary between country and growth charts. Based on short stature children and on evaluation, your doctor will consider the child to be of short stature if his or her height is less than 2 standard deviations below the rest of the population.

Short Stature: Causes

Growth is depending on a complex range of factors, including hormonal influences, nutrition, and genetic makeup. Having parents whose height is below average is the most common cause for short stature [2], but around 5% of children with short stature have a medical condition. The most common conditions which can underlie short stature include:

  • A tumor in the pituitary gland [3]
  • Undernutrition, due to a disease or lack of nutrients [4]
  • The mitochondrial disease, which can affect the body in different ways, including growth
  • Hypothyroidism, leading to a lack of growth hormone [5]
  • Some chronic diseases, such as celiac disease and other inflammatory disorders [6]
  • Some conditions that affect the production of collagen and other proteins
  • Diseases of the lungs, heart, kidneys, liver, or gastrointestinal tract

Also, there are some cases when an injury to the head during childhood can lead to reduced growth. The lack of growth hormone can also lead to delayed or absent sexual development. Also, rheumatologic diseases, such as arthritis are linked to short stature. This can happen due to this disease or as a result of glucocorticoid treatment, which can affect the release of growth hormone. DSS (disproportionate short stature) comes from genetic mutation, which affects the development of bone and cartilage and undermines physical growth [7]. Parents may not have short stature, but they may pass on a condition that is linked to DSS, such as SED (spondyloepiphyseal dysplasia), mucopolysaccharide disease, and achondroplasia.

Types: There are different types of short statures, such as

  • Variant restricted growth: In some cases, a person is small but otherwise healthy. This is known as variant restricted growth and it can happen for genetic or hormonal reasons. If parents are also small, then this can be known as FSS (familial short stature). If it is caused by a hormonal issue, then it is (CDGA) constitutional delay in growth and adolescence. The head and limbs of a person develop in proportion with the spine, but the person is otherwise healthy.
  • Proportionate short stature (PSS): In some cases, the overall growth is restricted, but the person’s body is in proportion and the person has a related health problem. This condition is known as PSS. If the person is heavy for their height, then this can suggest a hormone problem. The problem could be too little GH, excess glucocorticoid production or hypothyroidism. A person who is small and its weight is low for its height and it can be experiencing malnutrition, or he or she can have a disorder that leads to malabsorption.
  • Disproportionate short stature (DSS): DSS is linked to a genetic mutation. Usually, parents have average height. The person with DSS will be small in height, so he or she will have other unusual physical features. They can be visible at birth or they may develop in the time as the infant develops.

References:

[1] Rabbani MW, Khan WI, Afzal AB, Rabbani W. Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan. Pakistan Journal of Medical Sciences. 2013;29(1):53–7. doi:10.12669/pjms.291.2688

[2] Grigoletto V, Occhipinti AA, Pellegrin MC, et al. Definition and prevalence of familial short stature. Italian Journal of Pediatrics. 2021;47.

[3] Derrick KM, Gomes WA, Gensure RC. Incidence and outcomes of pituitary microadenomas in children with short stature/growth hormone deficiency. Hormone Research in Paediatrics. 2018;90:151–60.

[4] Martins VJB, Toledo Florêncio TMM, Grillo LP, et al. Long-lasting effects of undernutrition. International Journal of Environmental Research and Public Health. 2011;8(6):1817–46. doi:10.3390/ijerph8061817

[5] Gutch M, Kumar S, Razi SM, et al. Prevalence of short stature in juvenile hypothyroidism and the impact of treatment on various skeletal manifestation and growth velocity in a teritary care center. CHRISMED Journal of Health and Research. 2015;2(3):251-6.

[6] Assiri AMA. Isolated short stature as a presentation of celiac disease in Saudi children. Pediatric Reports. 2010;2(1):e4. doi:10.4081/pr.2010.e4

[7] Jee YH, Andrade AC, Baron J, Nilsson O. Genetics of short stature. Endocrinology and Metabolism Clinics of North America. 2017;46(2):259–81. doi:10.1016/j.ecl.2017.01.001

Elene Jordanova
Elene Jordanova
Elena Jordanova is a medical researcher from Macedonia with specialization in Internal Medicine

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