Introduction: Primary empty sella syndrome (ES) is rare in children. Reports relating it with various endocrine manifestations have been published. Asymptomatic cases have also been reported, this questions the existence of causal relationship.
Objective: To analyze causal relationship between primary ES and endocrine manifestations in 15 pediatric cases seen in our clinics, and suggest patients follow-up.
Population and methods: Retrospective review of 15 children diagnosed with primary ES. Anthropometric measures, mode of presentation, clinical manifestations and associated endocrine manifestations were extracted from medical records. Results of endocrine work-up and cranial MRI were analyzed.
Results: 15 cases of primary ES were gathered (11 boys and 4 girls, mean age 11 years [range 3 yrs 5/12 to 17 yrs 8/12]), 4 patients were obese. Cranial MRI was performed to investigate endocrine abnormalities in 10 cases, 1 patient had Noonan syndrome. MRI was performed for other reasons in 3 cases, ES discovery was fortuitous in 2 cases. Endocrine manifestations were present in 11 patients (7 GHD, 2 HH, 3 pubertal delay (2 in association with GHD, isolated in 1), 1 boy had CPP. Primary ES was total in 9 cases and partial in 6 (pituitary height 3mm: 5 cases; 2-2.5mm:7 cases; <2 mm: 1 case). There seemed to be no relationship between pituitary height and the type of endocrine manifestations. After over 10 years follow-up the arachnoidocele persisted in all cases without additional symptoms or endocrine abnormalities. GHD occured secondarily in 1 patient at age 11 years (ES diagnosed at 3 yrs 3/12), endocrine testing remained unremarkable in another case diagnosed at 6 yrs 5/12.
Discussion: In primary ES, pituitary gland is pushed to bottom or one side of the sella by herniation of subarachnoid space into sella turcica (different from pituitary hypoplasia). Physiopathological mechanisms to explain association of ES with various pituitary pathologies remain unclear. ES is also found in asymptomatic patients. GHD is commonest endocrine manifestations associated with ES, it may occur over time. Lack of correlation between pituitary height and reported pathologies, and variability of associated manifestations raises the question of causality relationaship which remains debatable. We suggest annual follow-up (growth, ophtalmological, neurological and pubertal screenings) with baseline endocrine testing in asymptomatic children. Control MRI, every two years has been our practice despite not being evidence-based.
Conclusion: Inspite of being rare in children, ES is associated with endocrine manifestations in some patients. Close follow-up is mandatory in affected children.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology