Endocrine Abstracts

Introduction: We describe a girl presenting with abnormal facial features, growth restriction with insufficient growth hormone production and learning difficulties. She has an unbalanced translocation between 17p13.3 and 10q26.13 causing a microdeletion at 17p13.3 and trisomy of 10q26.

Case report: At presentation at 7½ years of age, her height was 4 cm below the 0.4th centile with a growth velocity of 1.6 cm/year; weight was on 0.4th centile. Investigations showed a bone age two years behind her chronological age, a poor increase in growth hormone production in response to the glucagon stimulation test (peak value 10.1 mU/l) and also a low Insulin-like growth factor 1 IgF1. In the first year of treatment with growth hormone she grew 8 cm. Thereafter, her rate of growth steadied at 4 cm/year.

Chromosome 17p13.3 deletions are most commonly seen in Miller-Dieker syndrome associated with lissencephaly. This patient has facial features in keeping with Miller-Dieker syndrome but no lissencephaly. This may be because the 17p13.3 breakpoint is unusually telomeric sparing the LIS1 gene thought to be important in neuronal migration.

Conclusion: Growth restriction has been described in Miller-Dieker syndrome although there are no case reports describing growth hormone levels or supplementation in these patients. The presence of growth restriction with a proven reduction in growth hormone production in this case raises the question of whether there may be unidentified growth hormone deficiency in other patients with Miller Dieker syndrome and/or 10q trisomy. Further research in this area has the potential to contribute towards future management of these patients.