BSPED2014 Poster Presentations (1) (88 abstracts)
Septo-optic dysplasia, multiple pituitary hormone deficiency and optic nerve hypoplasia: clinical and neuroradiological characteristics
Maria Güemes 1 , Manuela Cerbone 1 , Tessa Kasia 2 , Louise Gregory 2 & Mehul Dattani 3
1Department of Endocrinology, Great Ormond Street Hospital for Children, London, UK; 2Developmental Endocrinology Research Group, Epigenetics and Genetics in Health and Disease Section, Genomics and Genetic Medicine Programme, Institute for Child Health, London, UK; 3Developmental Endocrinology Research Group, Epigenetics and Genetics in Health and Disease Section, Department of Endocrinology, Great Ormond Street Hospital for Children, Genomics and Genetic Medicin, London, UK.
Introduction: Multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD) are well known causes of hypopituitarism, but children with optic nerve hypoplasia (ONH) may also be at risk of hormone and neurocognitive disturbances. Clinical and neuroradiological findings of these three related conditions are characterised in this study, aiming to understand their pathophysiology.
Design: Data from 140 patients with hypopituitarism (MPHD, SOD) and ONH collected at a tertiary endocrinology centre between 2000 and 2013 were retrospectively analysed.
Results: -Clinical characteristics: Male/female ratios for SOD (n=102), MPHD (n=28) and ONH (n=10) were 1.37, 1.33 and 0.66 respectively. Birth characteristics were not significantly different between the three groups.
The mean age at the last appointment in all groups was 8.32–8.42 years and the majority of patients remained prepubertal and pre-adrenarcheal, whilst spontaneous puberty, in those who were of an appropriate age, had started in 86.6% SOD (26/30), 62.5% MPHD (5/8) and in all ONH (4/4). At birth, 27.5% of SOD (16/59), 37.5% of MPHD (6/16) and none of ONH (0/4) presented with abnormal male genitalia. At last appointment, obesity was found in 25.5% SOD (26/102), 32.1% MPHD (9/28) and 30% ONH (3/10). Oral glucose tolerance tests showed insulin insensitivity in 5/7 SOD patients with metformin administered to four of them. SOD patients had associated problems including hearing abnormalities (12.8%), hyposmia (2.9%), cardiovascular accidents (2%), hip dislocation (7.8%), autistic spectrum disorder (24.5%) and sleep disturbances (35.3%). Neurodevelopmental delay was found in 59% SOD (60/102), 14% MPHD (4/28) and 90% ONH (9/10).
-Neuroradiology: Table 1 summarises the main pituitary and corpus callosum findings in the three groups.
| SOD n:102 N (%) | MPHD n:28 N (%) | ONH n:10 N (%) | ||
| Septum pellucidum | Absent | 29 (28.4) | 0 (0) | 0 (0) |
| Partial/hypoplastic | 8 (7.8) | 0 (0) | 0 (0) | |
| Normal | 57 (55.9) | 26 (92.9) | 9 (90.0) | |
| Carvum septum pellucidum | 1 (1.0) | 0 (0) | 0 (0) | |
| Corpus callosum | Absent | 7 (6.9) | 0 (0) | 0 (0) |
| Partial/hypoplastic | 38 (37.3) | 0 (0) | 0 (0) | |
| Normal | 49 (48.0) | 26 (92.9) | 9 (90.0) | |
| Anterior pituitary | Partial/hypoplastic | 78 (76.5) | 25 (89.3) | 0 (0) |
| Normal | 16 (15.7) | 1 (3.6) | 9 (90.0) | |
| Enlarged | 1 (1.0) | 0 (0) | 0 (0) | |
| Posterior Pituitary | Absent | 20 (19.6) | 2 (7.1) | 0 (0) |
| Partial/hypoplastic | 7 (6.9) | 0 (0) | 0 (0) | |
| Normal | 39 (38.2) | 5 (17.9) | 9 (90.0) | |
| Enlarged | 1 (1.0) | 0 (0) | 0 (0) | |
| Ectopic | 28 (27.5) | 19 (67.9) | 0 (0) | |
| Stalk | Absent | 20 (19.6) | 6 (21.4) | 0 (0) |
| Partial agenesis/thin | 25 (24.5) | 4 (14.3) | 0 (0) | |
| Normal | 47 (46.1) | 14 (50.0) | 9 (90.0) | |
| Interrupted | 1 (1.0) | 1 (3.6) | 0 (0) | |
| Thick | 1 (1.0) | 0 (0) | 0 (0) |
Conclusion: Despite the phenotype variability within each condition, common clinical and neuroradiological features between SOD, MPHD and ONH denote a spectrum of disorders affecting midline brain development.
Article tools
My recent searches
My recently viewed abstracts
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more