Endocrine Abstracts

Introduction: De Morsier described an association between optic nerve hypoplasia and an absent septum pellucidum in 1956, termed septo-optic dysplasia. SOD is a common cause of multiple pituitary hormone deficiency in children. Clinical features can evolve. Genetic mutations in regulators of pituitary development have been suggested.

Aims: To determine associated endocrinopathies, ophthalmological and radiological findings in an Irish paediatric cohort of septo-optic dysplasia.

Methods: Index cases were identified through the Endocrinology database system of Our Lady’s Children’s Hospital Crumlin between 1980 and 2012. Retrospective chart analysis was conducted to determine demographics, endocrinopathies, ophthalmological and radiological findings.

Results: 78 patients were identified. Male 41 (53%) female 37 (47%). At referral: 26 (33%) were neonates. The commonest referral indication was visual problems 49 (62%) from ophthalmology (42%). Mean maternal age was 22.7years. Antenatal risk factors included infection (11%) drug abuse (11%) among others. Mean age of diagnosis of SOD was 1.7 years. 36% had at least one endocrinopathy: GH deficiency (GHD) (28%) being the commonest. 48 (62%) and 26 (33%) had bilateral and unilateral ONH respectively. 16 (33%) children with bilateral ONH and 4 (17%) with unilateral ONH had more than 2 endocrinopathies. 14 children had only ONH clinically and radiologically, of these, 13 (93%) did not have an endocrinopathy. 57 children had neuroimaging: 48 (84%) had abnormal results. 22 (46%) with abnormal MRI had at least 1 endocrinopathy. five deaths were noted: multiple pituitary hormone deficiencies (MPHD) (3), respiratory aetiology (2).

Conclusions: In our cohort, gender distribution was equal. Referrals were mainly ophthalmological in nature. Surprisingly, age at diagnosis was older. GHD was the commonest endocrinopathy. Endocrinopathies were more frequent in bilateral ONH, but were less likely in the absence of MRI findings. MPHD was common in those who died.