Chen Yanxi, Tan Lu, Chen Tao, Tian Haoming, Li Li, Ren Yan
Department of Endocrinology and Metabolism, Adrenal center, West China Hospital, Sichuan University, Chengdu, China.
Institute of Clinical Pathology, West China Hospital, Sichuan University, Chengdu, China.
Endocrine. 2025 Feb;87(2):822-829. doi: 10.1007/s12020-024-04058-x. Epub 2024 Oct 8.
Aldosterone/cortisol co-secreting adenomas (A/CPA) are a rare type of primary aldosteronism(PA), and cases of aldosterone/cortisol co-secreting adenomas during pregnancy are extremely rare, with no reported cases to date. The unique physiological state of pregnancy increases cortisol secretion through the hypothalamic-pituitary-adrenal (HPA) axis and leads to elevated levels of all components of the renin-angiotensin-aldosterone system (RAAS). This can cause overlapping symptoms with abnormal cortisol and aldosterone secretion, making diagnosis very challenging. This case involves a 29-year-old woman who developed hypercortisolism at 33 weeks of pregnancy. Despite receiving treatment for her symptoms and having a successful delivery, she continued to experience hypertension and hypokalaemia after giving birth. Eventually, she was diagnosed with ACTH-independent Cushing's syndrome and primary aldosteronism due to independent cortisol and aldosterone secretion from bilateral adrenal adenomas. Following a thorough diagnosis, classification, treatment, and follow-up, the patient achieved a clinical cure while preserving normal adrenal function. Further investigation revealed that both diseases were caused by KCNJ5 and PRKACA mutations found in the bilateral adrenal adenomas.
醛固酮/皮质醇共分泌腺瘤(A/CPA)是原发性醛固酮增多症(PA)的一种罕见类型,孕期醛固酮/皮质醇共分泌腺瘤的病例极为罕见,迄今为止尚无报道。孕期独特的生理状态通过下丘脑-垂体-肾上腺(HPA)轴增加皮质醇分泌,并导致肾素-血管紧张素-醛固酮系统(RAAS)所有成分水平升高。这可导致与皮质醇和醛固酮分泌异常重叠的症状,使诊断极具挑战性。本病例涉及一名29岁女性,在怀孕33周时出现皮质醇增多症。尽管针对其症状进行了治疗并成功分娩,但产后她仍持续存在高血压和低钾血症。最终,由于双侧肾上腺腺瘤独立分泌皮质醇和醛固酮,她被诊断为促肾上腺皮质激素非依赖性库欣综合征和原发性醛固酮增多症。经过全面诊断、分类、治疗和随访,患者实现了临床治愈,同时保留了正常肾上腺功能。进一步调查发现,这两种疾病均由双侧肾上腺腺瘤中发现的KCNJ5和PRKACA突变引起。