ESPE Abstracts

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)

Objective: To describe the phenotypic findings, prevalence and age of presentation of HPI in a cohort of patients with SOD.

Materials and methods: A retrospective electronic chart review of SOD patients diagnosed and followed at a tertiary endocrine centre between January 2000 to January 2020.

Results: We included 151 patients (50% women) and excluded 19 (2 deceased, 17 due to lack of data at the time of diagnosis or loss of follow-up). 21% (n=32) of patients were classified as SOD-plus (associated with any cortical malformation) and the rest were classified as classic SOD. 41% (n=60) of patients had all 3 diagnostic features. The most frequent findings were: ONH (90%) and HPI (74%), followed by aplasia/hypoplasia of SP (49%) and less frequent aplasia/hypoplasia of CC (3.4%). Of these, the most common association was ONH with HPI (49%), followed by ONH with midline brain abnormalities (45%) and less frequently, midline changes associated with HPI (6%). The diagnosis of HPI was made in most cases in children under 4 years of age (87%) and only in 3% in those over 8 years of age. Central hypothyroidism (94%) and secondary/tertiary adrenal insufficiency (73%); were the most common followed by growth hormone deficiency (58%), diabetes insipidus (32%), precocious puberty (7%) and hypogonadotropic hypogonadism (7%). Other common findings were cognitive delay (66%), seizures (40%), behavioral disturbances (9%), and autism spectrum disorder (5%).

Conclusion: ONH and HPI should be a warning sign for the early diagnosis of SOD allowing to perform a prompt treatment in order to reduce the associated morbidity and mortality. Hormonal deficiencies can manifest themselves in the course of the evolution of the disease, being more frequent in children under 4 years of age, falling progressively until 8 years. However, it is important to maintain active surveillance until physical maturity is complete.