Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia

Rachel Wurth; Crystal Kamilaris; Naris Nilubol; Samira M Sadowski; Annabel Berthon; Martha M Quezado; Fabio R Faucz; Constantine A Stratakis; Fady Hannah-Shmouni

doi:10.1530/EDM-20-0006

Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia

Endocrinol Diabetes Metab Case Rep. 2020 Apr 29:2020:20-0006. doi: 10.1530/EDM-20-0006. Online ahead of print.

Authors

Rachel Wurth¹, Crystal Kamilaris¹, Naris Nilubol², Samira M Sadowski², Annabel Berthon¹, Martha M Quezado³, Fabio R Faucz¹, Constantine A Stratakis¹, Fady Hannah-Shmouni¹

Affiliations

¹ Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development.
² Surgical Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
³ Laboratory of Pathology Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Abstract

Summary: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing syndrome (CS). This condition is characterized by glucocorticoid and/or mineralocorticoid excess, and is commonly regulated by aberrant G-protein coupled receptor expression may be subclinical, allowing the disease to progress for years undetected. Inhibin A is a glycoprotein hormone and tumor marker produced by certain endocrine glands including the adrenal cortex, which has not been previously investigated as a potential tumor marker for PBMAH. In the present report, serum inhibin A levels were evaluated in three patients with PBMAH before and after adrenalectomy. In all cases, serum inhibin A was elevated preoperatively and subsequently fell within the normal range after adrenalectomy. Additionally, adrenal tissues stained positive for inhibin A. We conclude that serum inhibin A levels may be a potential tumor marker for PBMAH.

Learning points: PBMAH is a rare cause of CS. PBMAH may have an insidious presentation, allowing the disease to progress for years prior to diagnosis. Inhibin A is a heterodimeric glycoprotein hormone expressed in the gonads and adrenal cortex. Inhibin A serum concentrations are elevated in some patients with PBMAH, suggesting the potential use of this hormone as a tumor marker. Further exploration of serum inhibin A concentration, as it relates to PBMAH disease progression, is warranted to determine if this hormone could serve as an early detection marker and/or predictor of successful surgical treatment.

Keywords: 17-hydroxysteroids*; 2020; ACTH; Adrenal; Adrenalectomy; Adult; Amenorrhoea; April; Asian - Korean; Black - African; CT scan; Cortisol; Cushing's syndrome; Diabetes mellitus type 1; Diabetes mellitus type 2; Female; Genetics; Gynaecomastia; Histopathology; Hypercortisolaemia; Hyperglycaemia; Hypogonadism; Immunohistochemistry; Inhibin; Inhibin A*; Macronodular Adrenal Hyperplasia; Macronodular hyperplasia; Male; Molecular genetic analysis; Novel diagnostic procedure; Telangiectasias; United States; Urinary free cortisol; Weight gain; White.