Septo-Optic Dysplasia [SOD] and Endocrine Abnormalities in Khon Kaen, Thailand
Nattakarn Sangkha MD1, Pattara Wiromrat MD1, Manat Panamonta MD1, Ouyporn Panamonta MD1
Affiliation : 1 Department of Pediatrics, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
Background : Septo-optic dysplasia [SOD], is a rare congenital syndrome being defined by the association of 2 of 3 features:
optic nerve hypoplasia [ONH], midline brain abnormalities, and hypothalamic-pituitary endocrine deficiencies.
Objective : Our aim was to describe the clinical manifestations and type of hypothalamic-pituitary dysfunction in SOD
patients seen at Srinagarind Hospital, Khon Kaen, Thailand.
Materials and Methods: A retrospective cross-sectional study was performed. The medical records of SOD patients
between 0 to 15 years of age followed-up at the Pediatric Endocrinology Clinic, Srinagarind Hospital, between January 2013
and April 2017 were included. Clinical manifestations and endocrine abnormalities were reviewed.
Results : A total of 60 SOD patients, 31 boys (51.7%) and 29 girls (48.3%) were included. The median age at presentation was
8.5 (IQR: 4.8 to 14.2) months. The most common initial manifestation was abnormal eye movement (58.3%). Three-fifhts
(61.7%) of patients had developmental delays. Structural brain abnormalities were documented in all of patients. The most
common endocrine abnormality was hypothyroidism (45.0%). Other hypothalamic-pituitary disorders were secondary
adrenal insufficiency (16.7%), central diabetes insipidus (11.7%), growth hormone deficiency, (11.7%), and hypogonadism
(3.3%). Twenty-five patients (41.7%) had no abnormal hypothalamic pituitary hormones. Appropriate hormonal replacement
and rehabilitation were given to all patients with disorders.
Conclusion : There are variations of the clinical manifestations of SOD which need to be investigated systemically. Early
detection of abnormalities and endocrine dysfunctions lead to timely treatment with good neurodevelopmental outcomes.
Keywords : Septo-optic dysplasia, De Morsier syndrome, Endocrinopathies, Hypopituitarism, Khon Kaen
