Case ReportAdrenocorticotropic Hormone Independent Macronodular Adrenal Hyperplasia due to Aberrant Receptor Expression: Is Medical Treatment Always an Option?
Section snippets
INTRODUCTION
Adrenocorticotropic hormone (ACTH) independent macronodular adrenal hyperplasia (AIMAH) is a rare form of Cushing’s syndrome where ACTH-independent hypercortisolism is under the control of aberrant receptors such as those for gastric inhibitory polypeptide (GIP), P-adrenergic receptors, vasopressin, serotonin, angiotensin II, and luteinizing hormone/human chorionic gonadotropin (LH/hCG) receptor (1). Most receptors belong to the superfamily of G-protein coupled receptors (GPCR) and their
DISCUSSION
AIMAH represents a rare albeit challenging to diagnose and treat form of adrenal Cushing syndrome (2). So far, pharmaceutical intervention of aberrantly expressed adrenal receptors has been attempted in only few cases with conflicting results. In this report, we have presented two AIMAH patients, one with food-dependent cortisol secretion and another with aberrant LH/hCG receptor expression. Only the latter patient had a long-lasting control of cortisol excess following medical intervention.
CONCLUSIONS
We reported two cases of AIMAH where cortisol production was under control of different illegitimate membrane receptors; GIP receptor in the first and LH/hCG in the second case. In the latter case, we suggest that pharmacological therapy with leuprolide can be the first line treatment, whereas in food-dependent Cushing syndrome somatostatin analogue effect is transient probably due to downregulation of somatostatin receptors.
DISCLOSURE
Dr. Stylianos Tsagarakis, and Dr. Marinella Tzanela, received research, and travel grants from Novartis. The other authors have no multiplicity of interest to disclose.
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