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Short Stature - Etiology, Diagnosis, Treatment, and Management

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A condition where the child’s height is either two standard deviations or more under the mean for children of that gender, age, and in the same racial group.

Medically reviewed by

Dr. Arpit Varshney

Published At November 20, 2023
Reviewed AtNovember 20, 2023

Introduction

This is the term applied to the condition where the child's height is less than that of a child of the same age, sex, and race. The child's height would be two standard deviations (SD) or lesser than the mean of children of that gender, race, or age. It is stated that the child's height is in the 2.3rd percentile or is within the 3rd percentile of the mean issued for children of the same race, gender, and age. The child's short stature can be a variant of regular, normal growth or an entity or disease that can also cause it. In the initial years of the child's life, common causes for short stature can be because of genetic and constitutional, i.e., delayed growth that can be considered normal. The child's growth has to be studied and observed to detect an underlying systemic disease, disorder, or syndrome by which the normal growth of the child can get stunted. The seriousness of the entity is decided by studying the causes of short stature, and the medical intervention is planned accordingly if possible.

What Is a Short Stature?

Short stature is a condition defined by the child’s stunted growth where the mean height of the child is lesser than that of children from the same age group, gender, and race or ethnic group. The child’s height with short stature is 2.3rd percentile or lesser than the 3rd percentile. The stunted height and growth can indicate the child suffers from any syndrome, such as Turner’s syndrome, growth hormone deficiency, or any other systemic illness. Anthropometric instruments help in measuring and keeping records of the child’s height. The height assessment can be done with the help of various instruments such as measuring tape, anthropometric rods, stadiometers, etc. Terminologies like familial short stature, idiopathic short stature, constitutional delay of growth, idiopathic short stature, etc., are used to define short stature. Certain ways, like radiological, hormonal, nutritional, and genetic data and records, are used to diagnose short stature.

What Is the Etiology of Short Stature?

The primary causes behind the short stature can be genetic, hormonal, or environmental factors. Generally, the etiology of short stature is divided into types mentioned below:

  • Genetics:

The genetic trait of a person decides their physical appearance, biological make-up, ethnicity, etc. If any offspring has a medical history of short stature or if either of the parents has a short stature, the probability of the offspring having a short stature increases. The genetic cause of short stature can be accepted only when no systemic or underlying illness exists in the medical history. Familial short stature (FSS) also comes under this category, where the child’s growth follows the short stature pattern of the family. The outcome of this growth is normal and equal to the family’s short stature. Only when the stature of shortness runs in the family is less than the 3rd percentile or three standard deviations less than the mean of age, gender, and ethnicity could there be monogenic defects behind the short stature.

  • Constitutional Growth Delay:

Constitutional growth delay is a condition in which the child shows delayed puberty growth compared to children of the same age, gender, and ethnicity. They are also known as ‘late bloomers,’ that is children showing delayed pubertal growth spurt. By examining the maturity of the child’s bones, bone age can be determined. After puberty begins, growth occurs as expected, and a pubertal growth spurt can be seen. Their height looks smaller for their age, but they catch up to normal, regular height growth once puberty hits them. They may have short stature when they are children, but in adulthood, their height matches the normal perimeters.

  • Early Puberty:

Early puberty is also known as precocious puberty. It is the condition when the child hits puberty much before the correct time of pubertal growth. The child’s body starts getting converted into adulthood too soon. Early puberty causes the early development of organs such as the reproductive organs, the beginning of early hormonal changes, etc. The general age of early puberty is before eight in females and below the age of nine to ten in males.

  • Medical Reasons:

The primary reason for short stature could be many disorders or diseases. Few children suffer from endocrine disorders; they suffer from the deficiency of growth hormones.

There may be hereditary reasons also, such as Down’s syndrome, silver-russell syndrome,and Noonan's syndrome. These genetic disorders hamper the child's growth and eventually lead to short stature. Many other conditions like hormonal imbalance, delayed growth, impaired function of the ovaries, issues with menstrual cycles.

  • Diseases Related to Bone.

  • Chronic Anomalies.

  • Environmental and Pollution.

How Is the Short Stature Diagnosed?

To diagnose the patient with short stature, the following measures should be taken:

  • Measurements With Anthropometric Tools:

The height vertex, body mass index, weight perimeters, trunk development, height, and limb length of the child are measured, and the measurements are then compared to the standard measurements of patients with the same gender, age, and race.

  • Medical History:

The detailed history of the child from pregnancy to parturition, as well as the developments from infancy to puberty and from puberty to adolescence of the individual.

  • Family History:

The medical history of not only the parents but also the history of the known ancestors is recorded. The pedigree analysis is also done.

  • Psychological Analysis:

A questionnaire is recorded to analyze social development, behavioral changes, family relations, etc. From this session, they get to know about the overall development of the child.

  • Medical Analysis and Tests:

Medical analysis, radiology, and tests are required to confirm the diagnosis of short stature.

What Is the Treatment and Management of Short Stature?

The management of short stature aims to ameliorate the systemic or underlying cause. Variety of treatments that balance hormone levels. These managements include getting control over the process of early puberty and initiating or balancing the hormonal deficiency.

Conclusion

Prompt diagnosis of such conditions that can be managed may help get the situation under control. Many cases have been seen with positive outcomes for those who took hormonal treatments. The patients who have attained skeletal maturity show a very poor prognosis. A patient going through mental and emotional stress can be managed and treated with therapy.

Dr. Arpit Varshney
Dr. Arpit Varshney

General Medicine

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