ESPE Abstracts

Background: Septo-optic dysplasia (SOD) is characterized by two or more features of the triad: optic nerve (ON) hypoplasia, middle brain defects and pituitaty deficiencies. Pituitary Stalk Interruption Syndrome (PSIS) presents as a lack of a visible pituitary stalk and/ or no eutopic posterior lobe hypersignal in the shallow sella turcica. Both conditions usually result in hypopituitarism. The diagnosis is based on clinical signs and MRI findings; only small n...

Background: Children with rare genetic disorders may have different endocrine problemsObjective and hypotheses: To present 4 paediatric patients (3 M, 1 F) aged 4.3 – 16.9 y.o. (mean age 11±5.5 years) with different genetic syndromes: Pallister-Hall, Holt-Oram, Ellis–van Creveld and Marshall.Method: Retrospective study.Results: Mean age of diagnosis was 5.3±2.7 y.o. All children had growth...