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Etiology of severe short stature below -3 SDS in a screened Finnish population
Juho Kärkinen1, Päivi J Miettinen1,2, Taneli Raivio1,2
1Children's Hospital, Helsinki University Hospital, Pediatric Research Center, Helsinki, Finland.
Insights
Severe short stature in children is usually caused by a pathological condition, not idiopathic short stature. The likelihood of a specific diagnosis increases with the severity of short stature.
Area of Science:
- Pediatric Endocrinology
- Growth and Development
- Medical Genetics
Background:
- Severe short stature (height SDS <-3) after age 3 is a significant clinical finding.
- Effective growth monitoring and screening are crucial in pediatric populations.
Purpose of the Study:
- To determine the etiological causes of severe short stature in a large pediatric cohort.
- To analyze the relationship between short stature severity and the probability of underlying pathology.
Main Methods:
- Retrospective cohort study of 785 children born 1990 or later with height SDS <-3.
- Analysis of medical records and growth data to identify underlying diagnoses.
Main Results:
- A pathological cause was identified in 71-76% of children.
- Syndromes (20%), organ disorders (16%), and growth hormone deficiency (12%) were the most common pathological causes.
- Idiopathic short stature (ISS) accounted for 27% of cases; its prevalence decreased with increasing short stature severity.
Conclusions:
- Severe short stature (height SDS <-3) after age 3 typically indicates a pathological etiology requiring investigation.
- The probability of identifying a specific cause, such as a syndrome or skeletal dysplasia, increases with greater height deficit and target height mismatch.
Objective:
To describe the etiology of severe short stature in the Helsinki University Hospital district covering a population of 1.2 million that is subject to frequent growth monitoring and screening rules during childhood.
Design:
Retrospective cohort study.
Methods:
We identified all subjects born 1990 or later with a height SD score <-3, after the age of 3 years, from the Helsinki University Hospital district growth database. A total of 785 subjects (376 females and 409 males) fulfilled our inclusion criteria; we reviewed their medical records and growth data and report their underlying diagnoses.
Results:
A pathological cause for short stature was diagnosed in 76% of the girls and 71% of the boys (P = NS). Syndromes were the most numerous pathological cause (n = 160; 20%), followed by organ disorders (n = 127; 16%), growth hormone deficiency (GHD, n = 94; 12%), SGA without catch-up growth (n = 73; 9%), and skeletal dysplasias (n = 57; 7%). Idiopathic short stature (ISS) was diagnosed in 210 (27%) subjects. The probability of growth-related pathology, particularly of a syndrome or skeletal dysplasia, increased with the shorter height SD score and the greater deviation from the target height. Sitting height to height SDS was increased in subjects with ISS, GHD, and SGA (all P < 0.01).
Conclusions:
Height <-3 SDS after 3 years of age usually results from a pathological cause and should be thoroughly investigated in specialized health care. The chance of finding a specific etiology increased with the severity of short stature, and the mismatch with target height.
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