ESPE2024 Poster Category 2 Pituitary, Neuroendocrinology and Puberty (36 abstracts)
Can Hypophysitis Mask Pituitary Stalk Germinoma? Insights from a Case Series Analysis.
Camila Pipino 1 , Diego Zepeda 2 , Cecilia Okuma 3,4 , Francisco Guarda 5 & Maria Hernandez 3,4
1Pediatrics resident. School of Medicine. Pontifical Catholic University of Chile, Santiago, Chile. 2Institute of Maternal and Child Research. Faculty of Medicine. University of Chile, Santiago, Chile. 3Department of Neurological Science. Faculty of Medicine. University of Chile, Santiago, Chile. 4Asenjo Institute of Neurosurgery, Santiago, Chile. 5Endocrinology Department, School of Medicine, Pontifical Universidad Católica de Chile, Santiago, Chile
Introduction: Pituitary stalk thickening (PST) is a rare disease and can cause hormonal deficits and/or mass effect. The most frequent causes in pediatric age are germ cell tumors (GCT) and Langerhans cell histiocytosis (LCH). Hypophysitis with extension to the stalk is extremely rare in pediatric patients. The aimis to describe 4 pediatric patients which were first diagnosed as hypophysitis but final diagnosis was GCT.
Clinical Cases: The four patients presented with pubertal polydipsia, polyuria, 3 with headaches, 2 with visual disturbances, 1 with pubertal arrest and 1 with short stature. After the diagnosis of PST, 3 had transsphenoidal biopsy informed as hypophysitis. In all of them the final diagnosis of GCT was confirmed with a biopsy.
| Age(years)/ Gender | Hormonal disturbances | MRI (Maximum stalk size) | Tumor markers | First diagnosis and Final diagnosis /Time until diagnosis (months) |
| 13/ F | Hypothyroidism Arginine-Vasopressin deficiency (AVD) Adrenal insufficiency Hypogonadism Hyperprolactinemia Growth hormone deficiency |
7.64 mm | Negative | Lymphocytic hypophysitis with T lymphocyte predominance (First biopsy) Final Diagnosis GCT (5 months) |
| 2 7/ M | AVD Adrenal insufficiency | 5 mm. | Negative | Langerhans cell histiocytosis (no biopsy) Hypophysitis, with lymphoplasmacytic infiltration (First biopsy) Final Diagnosis GCT (24 months) |
| 3 10/ F |
AVD Hypothyroidism Growth hormone deficiency |
8.1mm | Negative | Hypophysitis (MRI) (no biopsy) Final Diagnosis GCT (20 months) |
| 4 11/ F |
AVD Hypothyroidism Growth hormone deficiency Hyperprolactinemia |
5.16 mm | Negative | Granulomatous hypophysitis Final Diagnosis GCT (10 months) |
F=Female /M=Male |
Conclusion: In patients with GCT there is an immune response to the tumor, which generates an inflammatory peritumoral reaction that can be misdiagnosed as hypophysitis as we presented in this clinical serie. The management of these patients is complex and requires a multidisciplinary team.
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