Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.
Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.
Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiological and laboratory data were recruited from patients charts. GHD was diagnosed when stimulated GH≤7 ng/ml in two tests, low IGF-I/IGFBP-3 with subnormal growth velocity.
Results: Presenting age was 10.2±4.2 years (0.219.2). Initial height SDS was −3.1±1.0. Target height SDS was −1.4±0.9. Severe SS(<−3.0 SDS) and disproportionate SS were detected in 41.5% and 15.7% of the cases, respectively. SGA was more prevalent in mothers with severe SS (33.3% vs. 19.4%, P:0.003). Etiologic distribution of SS was as follows: 33.0% familial and/or constitutional, 18.4% syndromic, 12.7% endocrine disorders, 10.7% chronic diseases, 5.9% non-syndromic IUGR, 4.1% skeletal dysplasia, 4.7% idiopathic, 8.4%. undetermined. Turner Syndrome (TS) was detected in 3.9% of the population and 8.5% of the females. Cytogenetic analysis was performed in 47% of girls; 18% of them were consistent with TS. Isolated GHD, multiple pituitary hormone deficiency and hypothyroidism were detected in 6.8%, 3.5% and 1.6% respectively. Celiac disease was detected in %0.6, despite screening of Celiac antibodies in 46% of the population. In patients with severe SS, skeletal dysplasia and endocrine causes were more common, while, in non-severe SS (Height<−2 SDS, >−3 SDS), normal variant, idiopathic, chronic disease and IUGR were more common (P<0.001).
Conclusion: The initial screen and referring of high likelihood of endocrine problems lead to lower ratio of normal variant SS. When shortness gets more severe, the possibilities of endocrine causes and skeletal dysplasia increase. Having a severely short mother increases the likelihood of being born SGA and subsequent SS.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology