Mohiuddin Aabid, Taweel Adrianna, Taha Wael, Farrow Stephen
Department of Internal Medicine, Detroit Medical Center/Wayne State University, Detroit, USA.
Department of Endocrinology, Detroit Medical Center/Wayne State University, Detroit, USA.
Cureus. 2025 Feb 4;17(2):e78479. doi: 10.7759/cureus.78479. eCollection 2025 Feb.
Septo-optic dysplasia (SOD) is a congenital disorder characterized by a triad of ophthalmologic, neurologic, and hypothalamic-pituitary developmental dysfunctions. This case describes a 25-year-old woman with SOD and multiple associated endocrinopathies, including diabetes insipidus, who presented to the hospital after running out of subcutaneous desmopressin that was adequately controlling her diabetes insipidus. Her family expressed concerns about the standard intranasal formulation due to a history of adverse effects. The endocrinology team developed a tailored treatment plan to address the family's needs and limitations. This case highlights the role of endocrinologists in managing this rare disorder and the importance of tailored treatment plans for patients with complex needs.
视隔发育不良(SOD)是一种先天性疾病,其特征为眼科、神经科及下丘脑 - 垂体发育功能障碍三联征。本病例描述了一名25岁患有SOD及多种相关内分泌疾病(包括尿崩症)的女性,她在皮下去氨加压素用完后前来医院就诊,此前该药物能有效控制她的尿崩症。由于有不良反应史,她的家人对标准鼻内制剂表示担忧。内分泌团队制定了一个量身定制的治疗方案以满足该家庭的需求和限制。本病例突出了内分泌科医生在管理这种罕见疾病中的作用,以及为有复杂需求的患者制定量身定制治疗方案的重要性。