Journal of Inherited Metabolic Disease

, Volume 34, Issue 2, pp 489–497

Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)

  • Chris J. Gardner
  • Nicola Robinson
  • Tim Meadows
  • Robert Wynn
  • Andrew Will
  • Jean Mercer
  • Heather J. Church
  • Karen Tylee
  • J. Edmond Wraith
  • Peter E. Clayton
Original Article

DOI: 10.1007/s10545-010-9262-8

Cite this article as:
Gardner, C.J., Robinson, N., Meadows, T. et al. J Inherit Metab Dis (2011) 34: 489. doi:10.1007/s10545-010-9262-8

Abstract

Objective

Hurler Syndrome, (MPSIH) is an inborn error of glycosaminoglycan metabolism. Haematopoietic stem cell transplantation (HSCT) has transformed the prognosis for these children. Prior to transplant patients receive chemotherapy or chemo-radiotherapy. Regular screening for the development of endocrine sequelae is therefore essential. We present for the first time data on final adult height and endocrine complications in children with MPSIH post HSCT.

Design

Retrospective case note study and a prospective programme of growth and endocrine assessment.

Patients

22 patients were included, mean age at last assessment 12.2 (Range 6.3–21.6) years. Mean age at HSCT was 1.3 (SD 0.6) years. Conditioning included mostly busulphan and cyclophosphamide, with 5 patients receiving total body irradiation prior to second transplant.

Results

Height SDS decreased over time. Final height (FH) was attained in seven patients with male FH SDS −4.3 (Range −3.8, −5.1) and female FH SDS −3.4 (Range −2.9, −5.6). Eight of 13 patients tested had evidence of high growth hormone (GH) levels, while one had GH deficiency. Adrenal and thyroid function was normal in all. 11 patients were pubertal or post pubertal. Two females had pubertal failure requiring intervention. All male patients had spontaneous, complete puberty; however three patients have reduced testicular volumes. Five out of 13 patients tested had an abnormal oral glucose tolerance test.

Conclusion

Growth is impaired, primarily related to skeletal dysplasia, but also associated with GH resistance. Pubertal development may be compromised and abnormalities of glucose metabolism are common. We recommend a structured endocrine surveillance programme for these patients.

Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Chris J. Gardner
    • 1
    • 3
  • Nicola Robinson
    • 1
  • Tim Meadows
    • 1
  • Robert Wynn
    • 1
  • Andrew Will
    • 1
  • Jean Mercer
    • 1
  • Heather J. Church
    • 1
  • Karen Tylee
    • 1
  • J. Edmond Wraith
    • 1
  • Peter E. Clayton
    • 1
    • 2
  1. 1.Royal Manchester Children’s HospitalManchesterUK
  2. 2.Manchester Academic Health Sciences CentreUniversity of ManchesterManchesterUK
  3. 3.Clinical Sciences CentreAintree University HospitalLiverpoolUK