Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry

Objective

To characterize growth patterns in individuals with Shwachman-Diamond syndrome (SDS) in North America by generating SDS-specific growth curves and assessing the impact of hematopoietic stem cell transplant (HSCT) and growth hormone (GH) on growth.

Study design

We conducted a retrospective cohort study of 127 subjects with confirmed biallelic Shwachman-Bodian-Diamond syndrome mutations enrolled on the North American SDS Registry. Height-for-age, weight-for-age, and body mass index (BMI)-for-age Z-scores were analyzed and compared with Centers for Disease Control and Prevention and World Health Organization reference populations. The effects of HSCT and GH therapy on growth velocity and final height outcomes were assessed.

Results

Individuals with SDS demonstrated significantly lower height-for-age Z-scores, with median adult height being approximately 7 cm shorter in females and 11 cm shorter in males compared with Centers for Disease Control and Prevention standards. Although weight-for-age was diminished, BMI-for-age trajectories were preserved. HSCT significantly reduced height-for-age Z-scores slope, and in a small subsample, GH therapy showed limited efficacy in improving final height.

Conclusions

This study of SDS across a diverse North American sample extends available growth data for this rare condition, confirming persistent short stature but normal BMI for age in SDS. HSCT was associated with a reduction in growth. No significant change in height velocity was observed with GH therapy. These data will inform clinical growth evaluation in SDS patients.