10149-CS-13 Clinical findings of central nervous system germ cell tumors with loss of endocrinal function

Abstract Introduction Central nervous system germ cell tumors originating in the neurohypophysis or hypothalamus present with various endocrine symptoms, delaying diagnosis up to several years in some cases. Therefore, early diagnosis and treatment are important. Subjects and Methods Retrospective review was performed in 30 patients of central nervous system germ cell tumors diagnosed at Okayama university hospital between 2010 and 2025. We focused on patients who presented with endocrine abnormalities at the time of the initial diagnosis. Results Fifteen patients (12 males and 3 females) presented with symptomatic endocrine abnormalities. The median age was 16 years. Initial symptoms included headache and fatigue (6 cases), depression (3 cases), short stature (2 cases), amenorrhea (1 case), dry mouth and polyuria (4 cases), weight loss (2 cases), and precocious puberty (1 case). Hormone replacement therapy was required based on each specific deficiency. The diagnostic was 12 cases of germinoma and 3 cases of non-germinomatous germ cell tumor (NGGCT). The germinoma group tended to have a longer duration from onset to diagnosis compared to the NGGCT group (median 11 months vs. 3 months: p = 0.08). In the germinoma group, younger patients (age 18 years or younger at onset) had a significantly longer diagnostic delay compared to older patients (median 28 months vs. 4 months: p < 0.05), and patients presenting with dry mouth and polyuria had a significantly shorter diagnostic delay (median 4 months vs. 21 months: p < 0.05). Discussion and Conclusion Central nervous system germ cell tumors often present with nonspecific endocrine symptoms. Younger germinomas with endocrine abnormalities which were sometimes masked lead to delayed treatment. These findings emphasize the importance of multidisciplinary recognition of the disease.