SAT-006 - Spontaneous Recovery of Anterior Pituitary Function with Persistent Diabetes Insipidus in Septo-Optic Dysplasia: A Case Report

Abstract

Background: Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, midline brain defects, and hypothalamic-pituitary dysfunction. While hypopituitarism affects 62-80% of SOD patients, the natural history of endocrine dysfunction shows considerable heterogeneity. We present an unusual case demonstrating spontaneous recovery of anterior pituitary function during maturation while diabetes insipidus persisted, highlighting the differential pathophysiology of anterior versus posterior pituitary dysfunction in SOD.

Case Presentation: A 28-year-old female with SOD, who required hydrocortisone and thyroid hormone replacement therapy during childhood, demonstrated spontaneous normalization of anterior pituitary function as "the anterior pituitary developed more" during growth and development. She discontinued replacement therapy for growth hormone deficiency, hypothyroidism, and adrenal insufficiency. However, she continues to require desmopressin (DDAVP) 0.1 mg twice daily for persistent central diabetes insipidus. Brain MRI revealed characteristic SOD features, including absent septum pellucidum, bilateral optic nerve and chiasm hypoplasia, a normal infundibulum, and probable ectopic posterior pituitary with absent neurohypophyseal bright spot in its typical location. Current evaluation shows normal thyroid function (TSH 2.610 µIU/mL, free T4 1.35 ng/dL) without replacement therapy, while diabetes insipidus remains well-controlled on DDAVP.

Conclusion: This case demonstrates differential recovery patterns in SOD, with spontaneous restoration of anterior pituitary function contrasting with persistent posterior pituitary dysfunction. The preservation of infundibular integrity despite ectopic posterior pituitary may facilitate hypothalamic-anterior pituitary connectivity and functional recovery. These findings underscore the importance of longitudinal endocrine monitoring in SOD and suggest that preserved structural connections may predict functional outcomes.

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