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 (6.9±5.1 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.
Bibliographical noteFunding Information:
This work was partially funded by the Children’s Cancer Research Fund, Minneapolis, MN (JT, PO), NIH T32-DK065519 (LP) and the Minnesota Medical Foundation (JT, MP). We would like to recognize Dr William Krivit, now deceased, for his pioneering work in the field of transplant for Hurler syndrome, the outstanding nursing staff who have cared for these patients over the years and the support of the families in furthering our understanding of MPS IH. We also thank Eileen Hanson and Teresa Kivisto for their dedication and persistence in the care of the families and in obtaining the necessary data.