Pituitary dysfunction in trans-sellar encephalocele: a two-case report and a literature review

Trans-sellar encephalocele (TSE) is a rare congenital anomaly of the cranial base characterized by herniation of intracranial contents through the sellar floor. Although clinical presentations are diverse, the prevalence and characteristics of endocrine dysfunction due to hypothalamic-pituitary involvement are unclear. This study aimed to clarify endocrine function in patients with TSE and emphasized the importance of multidisciplinary management. Here, we present two adult cases of TSE with progressive visual impairment and evident pituitary hormone deficiencies, and conducted a comprehensive literature review to investigate endocrine function and its postoperative outcomes in patients with TSE. Both cases presented with growth hormone (GH) deficiency and diabetes insipidus and showed deterioration in GH secretion, which was postoperatively assessed using dynamic testing, despite minimal or no direct manipulation of the pituitary gland. In a literature review, 87 cases from 41 case reports and 3 review articles were identified. Among the 87 cases, pituitary dysfunction was identified in 41 (47.1%); however, detailed hormonal assessments were performed in only 25 (28.7%) of the cases. In 33 cases with documented preoperative and postoperative endocrine status, pituitary function worsened in 16 (48.5%), improved in 6 (18.2%), and remained unchanged in 11 (33.3%) postoperatively. Pituitary dysfunction occurred in nearly half of patients with TSE, but was frequently underdiagnosed due to inadequate endocrine assessment. Comprehensive endocrine evaluation, including dynamic GH testing, performed at diagnosis and perioperatively, may be essential in optimizing patient outcomes.