Introduction: Septo optic dysplasia is a triad of conditions, which include MPHD, IGHD and ONH. We have analysed data in our regional cohort primarily focusing on MRI brain scans.
Patients and methods: MRI scans of the brain including T1/T2 weighted high resolution images in children with a diagnosis of septo optic dysplasia (SOD (N=38)), multiple pituitary hormone deficiency (MPHD (N=19)) and isolated GH deficiency (IGHD (n=14)) (total 71 patients) were retrospectively analysed. Midline brain defects were defined as an absent septum pellucidum (SP) and/or absent/hypoplastic corpus callosum (CC). Pituitary abnormalities were defined as an absent/hypoplastic/enlarged anterior pituitary (AP), absent/undescended/enlarged posterior pituitary (PP) or an absent/hypoplastic pituitary stalk.
Results: The male:female ratio was similar in SOD and IGHD at 1.25:1 and 1.2:1 respectively, but significantly higher at 2.2:1 in MPHD. Whilst diabetes insipidus was more prevalent in patients with SOD, GH, TSH, ACTH and gonadotrophin deficiency were more prevalent in those patients with MPHD. Serum prolactin was significantly higher in patients with SOD than MPHD. MRI scans showed significant differences between the diagnostic groups. Patients with MPHD and IGHD showed no abnormalities within midline brain or with structural anomalies, but had increased abnormalities involving the anterior pituitary, and in MPHD there were increased posterior pituitary and pituitary stalk abnormalities, compared to SOD. Patients with SOD all had some level of structural abnormality either related to ventricular anomalies or midline brain defect.
Conclusion: Sex ratio in patients with SOD and IGHD was similar, those with IH significantly higher 2.2:1 male female ratio. Patients with SOD exhibited abnormalities in all areas of brain compared to the MPHD and IGHD group who exhibit only pituitary abnormalties DI was more common in patients with SODGH, TSH, ACTH and gonadotrophin deficiencies were more common in patients with MPHD.
05 - 07 Nov 2008
British Society for Paediatric Endocrinology and Diabetes