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Endocrine Abstracts (2021) 78 P60 | DOI: 10.1530/endoabs.78.P60

BSPED2021 Poster Presentations Pituitary and Growth (8 abstracts)

Abnormalities of growth hormone secretion in lowe syndrome: a case series

Nikhil Pattani 1 , Antonia Dastamani 2 , Hoong-Wei Gan 2 & Mehul Dattani 2


1University of Birmingham, Birmingham, United Kingdom; 2Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom


Background: Lowe Syndrome is an X-linked recessive genetic disorder caused by OCRL gene mutations, which impair intracellular trafficking processes. Signs are multisystemic, including congenital cataracts, intellectual disability and proximal renal tubulopathy. Short stature is a common association, often attributed to chronic kidney disease through childhood. However, recent evidence suggests that the hypothalamo-pituitary-somatotroph axis may play a role.

Objectives: This case series reports three Lowe Syndrome patients with short stature and poor growth velocity at a tertiary-level centre in the United Kingdom (16yr, 18yr, and 5yr 11mo). All were diagnosed with GH deficiency or neurosecretory dysfunction through glucagon provocation tests, GH overnight profiling and/or pituitary MRI scans. All three were started on recombinant GH therapy at 15yr, 12yr 7mo and 4yr 2mo respectively (all pre-pubertal at commencement). This case series aims to analyse the efficacy of GH therapy in these patients.

Results: The first patient showed a reduced GH peak of 6.4ng/mL on provocation testing, and anterior pituitary hypoplasia on MRI. In response to GH therapy, his IGF-1 concentration doubled, puberty commenced, and growth velocity increased from 3.4 to 5.0 cm/yr. The second patient had a normal GH peak of 21.5ng/mL on provocation testing, but IGF-1 concentration was at the lower end of normal range at 106ng/ml (88-452ng/mL). He progressed well through puberty on GH therapy, with IGF-1 concentrations also doubling and growth velocity increasing from 2.8 to 4.9 cm/yr. The third patient had a normal GH peak of 11.2ng/mL on provocation tests, but undetectable IGF-1. The overnight profile was abnormal and anterior pituitary hypoplasia was identified. On GH therapy, growth velocity increased from 3.7 to 5.0 cm/yr and progression through shoes/clothes sizes hastened. However, IGF-1 levels remained low. Although these patients currently have heights <-3SDS, GH doses are still being optimized and delayed bone ages indicate further growth potential.

Conclusion: Short stature in Lowe Syndrome patients should not be presumed a consequence of renal failure alone. Aberrations of the hypothalamo-pituitary-somatotroph axis need to be considered. Recombinant GH therapy may improve linear growth, however, its impact on final height achieved is yet to be determined.

Volume 78

48th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Online, Virtual
24 Nov 2021 - 26 Nov 2021

British Society for Paediatric Endocrinology and Diabetes 

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