Wurth Rachel, Kamilaris Crystal, Nilubol Naris, Sadowski Samira M, Berthon Annabel, Quezado Martha M, Faucz Fabio R, Stratakis Constantine A, Hannah-Shmouni Fady
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development.
Surgical Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Endocrinol Diabetes Metab Case Rep. 2020 Apr 29;2020. doi: 10.1530/EDM-20-0006.
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.
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.
原发性双侧大结节性肾上腺增生（PBMAH）是促肾上腺皮质激素非依赖性库欣综合征（CS）的罕见病因。这种疾病的特征是糖皮质激素和/或盐皮质激素过多，通常由异常的G蛋白偶联受体表达调控，可能为亚临床状态，使疾病在多年未被发现的情况下进展。抑制素A是一种糖蛋白激素和肿瘤标志物，由包括肾上腺皮质在内的某些内分泌腺产生，此前尚未作为PBMAH的潜在肿瘤标志物进行研究。在本报告中，对3例PBMAH患者肾上腺切除术前和术后的血清抑制素A水平进行了评估。在所有病例中，术前血清抑制素A均升高，肾上腺切除术后随后降至正常范围。此外，肾上腺组织抑制素A染色呈阳性。我们得出结论，血清抑制素A水平可能是PBMAH的潜在肿瘤标志物。
PBMAH是CS的罕见病因。PBMAH可能有隐匿的表现，使疾病在诊断前进展数年。抑制素A是一种在性腺和肾上腺皮质中表达的异二聚体糖蛋白激素。一些PBMAH患者的抑制素A血清浓度升高，提示该激素作为肿瘤标志物的潜在用途。有必要进一步探索血清抑制素A浓度与PBMAH疾病进展的关系，以确定该激素是否可作为早期检测标志物和/或成功手术治疗的预测指标。
