Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2009) 23 P14

BSPED2009 Poster Presentations (1) (38 abstracts)

Growth restriction with insufficient growth hormone production in a child with variant Miller-Dieker syndrome

Rosemary Marsh & Joseph Raine


Whittington Hospital, London, UK.


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.

Volume 23

37th Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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