Growth hormone improves short stature in children with Shwachman-Diamond syndrome

Abstract

Introduction Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disorder characterized by pancreatic insufficiency and bone marrow failure. Short stature is a recognized feature of SDS syndrome; however, systemic data concerning recombinant human growth hormone (rGH) treatment are limited. Aim of the study To assess the effect of rGH treatment in patients with SDS. Material and Methods Retrospective data were collected from patients with SDS and growth hormone deficiency (GHD) treated with rGH in the Children’s Memorial Health Institute in Warsaw. The annual growth velocity (GV) and height standard deviation score (SD) were compared for up to 2 years of rGH treatment. Results Six SDS patients (M : F = 1 : 5) treated with rGH were identified. The median age of starting rGH therapy was 7.5 years, with a mean baseline height SD of –4.06 (range: –6.3 to –2.3 SD). The height SD significantly improved to –3.3 ( p = 0.002) and then –3.03 ( p = 0.002), following 1 and 2 years of treatment, respectively. The average GV for the patients prior to starting treatment was 4.9 cm/year (range: 3.1–6.5 cm/year), which significantly improved to 7.6 cm/year (range: 5.7–9.6 cm/year) after 1 year of rGH treatment ( p = 0.020) and to 6.7 cm/year at the end of 2 years. Conclusions Our study has shown that rGH treatment significantly improves the height SDS and GV of patients with SDS and GHD without any side effects. Further research is required to analyse the long-term effect of rGH therapy in patients with SDS.

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants

“…Growth abnormalities are commonly observed in patients with SDS. 42 These may present as intrauterine growth restriction (IUGR) or short stature. IUGR or short stature were observed in 90% of patients with SBDS variants and the 50 th percentile of the SDS population correspond to the 3 rd percentile of the healthy population.…”