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Definition and prevalence of familial short stature
Veronica Grigoletto1, Alessandro Agostino Occhipinti1, Maria Chiara Pellegrin2
1University of Trieste, Trieste, Italy.
Insights
Accurate measurement of familial short stature (FSS) is crucial. Novel definitions help identify children needing genetic evaluation for autosomal dominant short stature (AD-SS), distinguishing them from constitutional familial short stature (C-FSS).
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Familial short stature (FSS) is a common concern in pediatric endocrinology.
- Accurate diagnosis of FSS subtypes is essential for appropriate management and genetic counseling.
- Previous definitions may not adequately differentiate subtypes requiring distinct clinical approaches.
Purpose of the Study:
- To validate novel definitions for familial short stature (FSS) in a cohort of children with short stature.
- To determine the prevalence of target height-related short stature (TH-SS), suspected autosomal dominant short stature (AD-SS), and constitutional familial short stature (C-FSS).
- To emphasize the importance of measured parental heights in diagnosing FSS.
Main Methods:
- A cross-sectional study of 65 children referred for short stature with measured heights of both parents.
- Defined TH-SS, AD-SS, and C-FSS based on standardized deviation scores (SDS) of child and parental heights.
- Compared diagnoses using measured versus reported parental heights.
Main Results:
- Of 65 children, 48 had a height ≤ -2 SDS.
- Novel definitions identified 24 children with TH-SS, 16 with AD-SS, and 12 with C-FSS.
- Relying on reported parental height would have led to missing cases in all FSS categories.
Conclusions:
- Novel definitions for FSS subtypes (TH-SS, AD-SS, C-FSS) are effective in a clinical setting.
- AD-SS (33% of cases) warrants genetic evaluation, while C-FSS (25%) may not require specific investigation.
- Accurate measurement of children's and parents' heights is critical for evaluating short stature.
Objective:
To verify the prevalence of novel definitions of familial short stature on a cross-sectional cohort of children referred for short stature when their height and that of both parents were measured.
Methods:
We consecutively enrolled 65 individuals referred for short stature when both parents were present. We defined "target height-related short stature" (TH-SS) when child's height is ≤ - 2 SDS and included in the range of target height; suspected "autosomal dominant short stature" (AD-SS) when child height and at least one parent height are ≤ - 2 SDS; "constitutional familial short stature" (C-FSS) when a child with TH-SS does not have any parents with height ≤ - 2 SDS.
Results:
Of 65 children referred for SS, 48 individuals had a height ≤ - 2 SDS. Based on the parents' measured heights, 24 children had TH-SS, 16 subjects AD-SS, and 12 individuals C-FSS. If we had considered only the parents' reported height, 3 of 24 children with TH-SS, 9 of 16 with AD-SS, and 10 of 12 with C-FSS would have been lost.
Conclusion:
We suggest novel definitions to adequately detect and approach the cases of FSS since C-FSS (25%) might not need any specific investigation, while on the contrary, AD-SS (33%) should undergo genetic evaluation. Moreover, this study underlines that adequate measurement and consideration of children's and parents' heights (individually and together) are crucial in the clinical evaluation of every child with short stature.
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