Year: 2025
Type: article
Study design: Case Report
Abstract: Septo-optic dysplasia (SOD) is a rare disorder that affects early brain development. It is characterized and diagnosed by the presence of at least two out of the following: optic nerve hypoplasia, agenesis of the septum pellucidum, and pituitary hypoplasia. Currently, the cause of the disease is largely thought to be sporadic and involves both genetic and environmental factors. We report the case of a 29-year-old female patient who was diagnosed with SOD after years of diagnostic investigation as well as the emergence of multiple endocrine pathologies related to her SOD. The patient is currently being treated with a variety of hormones to manage her endocrinopathies and is predicted to have a favorable prognosis.
Source: Cureus
DOI: 10.7759/cureus.82329
Authors: Anjana Swami, Monish Sharma, Lindsey VanDyke
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409453140