A Complex Case of Glucose-Phosphate Isomerase Deficiency With an Indeterminate Adrenal Incidentaloma

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.

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Publication Details

Journal
Cureus
Published
2026-03-03
DOI
https://doi.org/10.7759/cureus.104615
Primary Topic
Erythrocyte Function and Pathophysiology
Type
article
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article

A Complex Case of Glucose-Phosphate Isomerase Deficiency With an Indeterminate Adrenal Incidentaloma

Naveen Rojed, Balasubramanian Thiagarajan Srinivasan, Nisha R Sungar, Azhar Rizvi et al.
Cureus
Erythrocyte Function and Pathophysiology
article

A Complex Case of Glucose-Phosphate Isomerase Deficiency With an Indeterminate Adrenal Incidentaloma

Naveen Rojed, Balasubramanian Thiagarajan Srinivasan, Nisha R Sungar, Azhar Rizvi, Gauri Satheesh Nair
article en

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.

Cureus
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Erythrocyte Function and Pathophysiology
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