ECE2013 Poster Presentations Paediatric endocrinology (32 abstracts)
Aim: The Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) is an open-label multinational observational study which collects information on management, clinical outcomes and treatment safety of children with growth disorders. Here we present descriptive data from the Greek cohort.
Methods and results: In Greece, 211 children (44.5% females, 136 naive to GH treatment at study entry and 18 not GH-treated) have been enrolled, after providing informed consent, in eight investigational sites, over 6 years (20052011). GH deficiency (GHD, N 177) and Turner syndrome (TS) (N 20) were the main diagnoses upon enrollment. GHD was diagnosed with higher frequency in males than females (63.5 vs 36.5%). In patients where pubertal stage had been recorded, 70.4% of females (GHD 67.9%, TS 76.5%) and 78.3% of males were pre-pubertal (Tanner B1 and G1 respectively). The most frequently performed tests to confirm the need for GH administration were glucagon (40.0%) and clonidine (32.0%). When a combination test was performed glucagon and clonidine were paired most frequently (50%). The mean max GH peak was 6.1±3.1 and 12.4±8.2 μg/l for patients with GHD and TS respectively. Baseline characteristics to be depicted in table.
Conclusions: In the Greek cohort of GeNeSIS, GHD is the most frequent cause for GH treatment, followed by TS. While the latter is diagnosed earlier, bone age to chronological age gap is numerically smaller and a higher GH initiation dose is administered. The results should be interpreted in the context of an observational, ongoing study.