Definition and prevalence of familial short stature

Abstract

Objective A significant portion of familial short stature (FSS) cases may not be recognized in clinical practice if the parents’ height is not adequately investigated. This study aimed to verify the prevalence of different definition of FSS on a cross-sectional cohort of children referred for short stature (SS) when their height and that of both parents were measured. Methods We consecutively enrolled 65 individuals referred for SS when both parents were present. We defined “target height related short stature” (TH-SS) when child height SDS was ≤-2 and included in the range of TH (i.e. TH SDS ± 1.5) and “autosomal dominant short stature” (AD-SS) when child and at least one parent heights were ≤-2 SDS. Results On 65 children referred for SS, 48 individuals had a height ≤-2 SDS. Based on measured parents’ heights, 24 children had TH-SS and 16 children AD-SS; 12 children were identified by both TH-SS and AD-SS, while 12 children with TH-SS did not have any of parents with SS. When considering reported parents’ heights, 3 out of 24 children with TH-FSS and 9 out of 16 with AD-FSS would have been missed. Conclusion This study underlines that adequate measurement and consideration of both parents’ height should be part of the clinical evaluation of every children with SS and new definitions should be used to detect and adequately approach the cases of FSS, since the identification of a causative gene in AD-SS can support treatment and follow-up decisions.