Endocrine Abstracts

Introduction: Hurler Syndrome, (MPS1H) is an inborn error of metabolism which was previously fatal in childhood. Bone marrow transplantation (BMT) has transformed the prognosis for these children. First BMTs are preconditioned with chemotherapy, and we have therefore put in place surveillance for endocrine sequelae. We present for the first time data on final adult height in children with MPS 1H post BMT, as well as the endocrine complications seen in this cohort.

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

Results: Twenty-two patients were eligible for inclusion, mean age at last assessment 12.2 (Range 6.2–21.6) years. Age at BMT 1.3 (S.D. 0.6) years. Conditioning for first BMT included busulphan and cyclophosphamide with 5 out of 10 second transplants receiving total body irradiation. Height SDS showed a progressive fall over time. Final height (FH) was attained in 7 patients: Male FH SDS −4.8 (S.D. 0.9), Female FH SDS −3.8 (S.D. 1.3). Assessment of the GH-IGF axis was undertaken in 13: 9 had evidence of GH resistance, 1 had GH deficiency. Adrenal and thyroid function was normal in all. 11 patients were peri or post pubertal. 2 females had pubertal failure requiring intervention, with raised gonadotrophins. All male patients had spontaneous, normally timed complete puberty; however 2 post pubertal patients have reduced testicular volumes implying germinal cell damage. Most importantly insulin-glucose status has been monitored with OGT testing. 5 out of 13 tested had an abnormality of glucose metabolism.

Conclusion: Growth is impaired in this cohort primarily related to progressive skeletal dysplasia, but also associated with GH resistance. Full pubertal development may be compromised and abnormalities of glucose metabolism are common. We recommend endocrine surveillance for these patients.