A Complex Case of Glucose-Phosphate Isomerase Deficiency With an Indeterminate Adrenal Incidentaloma
Abstract
Adrenal incidentalomas are being identified more frequently with the widespread use of cross-sectional imaging, and their assessment requires careful evaluation to exclude hormonal excess and malignancy. We present the case of a middle-aged woman with chronic hemolytic anaemia due to glucose-phosphate isomerase (GPI) deficiency who was found to have a gradually enlarging left adrenal mass during long-term follow-up. Over an 11-year period, the lesion increased in size from 1.2 cm to 6 cm, appropriately raising concern about malignant potential. The presence of additional paravertebral soft-tissue lesions added further diagnostic uncertainty. Through a multidisciplinary approach involving endocrinology, haematology, specialist radiology, and regional multidisciplinary team discussion, supported by detailed biochemical assessment and positron emission tomography-computed tomography (PET-CT) imaging, the lesion was ultimately characterised as a biochemically non-functioning adrenal incidentaloma with low metabolic activity. This case underscores the value of multidisciplinary collaboration and highlights the importance of recognising extramedullary hematopoiesis as a potential radiological mimic of malignancy in patients with chronic hemolytic disorders.
Fields of Study & Subjects
Adrenal and Paraganglionic Tumors
Adrenal Hormones and Disorders
Pituitary Gland Disorders and Treatments
Publication details
- Journal / source
- Cureus
- Volume
- 18
- Issue
- 3
- Pages
- e104615–e104615
- Publication date
- 3 March 2026
- Language
- EN