Growth hormone improves short stature in children with Shwachman-Diamond syndrome.
Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Elżbieta Moszczyńska, Maja Klaudel-Dreszler, Grzegorz Oracz, Joanna Pawłowska, Mieczysław Szalecki
Author Information
Agnieszka Bogusz-Wójcik: Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.
Honorata Kołodziejczyk: Anthropology Department, The Children's Memorial Health Institute, Warsaw, Poland.
Elżbieta Moszczyńska: Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.
Maja Klaudel-Dreszler: Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Grzegorz Oracz: Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Joanna Pawłowska: Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Mieczysław Szalecki: Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.
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.
