1. ¹Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA
2. ²Department of Epidemiology, University of Minnesota, Minneapolis, MN, USA
3. ³Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, USA

Correspondence: Dr A Petryk, Department of Pediatrics, University of Minnesota, 13-124 PWB, MMC 404, 516 Delaware Street SE, Minneapolis, MN 55455 USA. E-mail: petry005@umn.edu

Received 19 June 2007; Revised 15 November 2007; Accepted 15 January 2008; Published online 18 February 2008.

Abstract

Short stature is characteristic of Hurler syndrome, or mucopolysaccharidosis type IH (MPS IH). Hematopoietic stem cell transplantation (HSCT) is used to treat children with MPS IH. While HSCT corrects some of the metabolic features of MPS IH, its effects on growth are not well delineated. We investigated growth in patients with MPS IH after HSCT and described accompanying endocrine abnormalities. A cohort of 48 patients with MPS IH who had received HSCT between 1983 and 2005 were included. The prevalence of short stature (height <- 2 s.d. score, SDS) before HSCT was 9% , and increased to 71% at last follow-up (6.95.1 years after HSCT). Short stature was positively associated with increased age at HSCT (P=0.002) and TBI (P=0.009). In total, 23% had growth hormone deficiency and/or low insulin-like growth factor-1, one female patient had premature adrenarche, one precocious puberty and 27% had clinical or subclinical hypothyroidism. Growth failure is highly prevalent in children with MPS IH after HSCT. Children who had no TBI exposure and were younger at the time of HSCT had a better height outcome.