Lee Sihoon, Hwang Ranjoo, Lee Junho, Rhee Yumie, Kim Dae Jung, Chung Ung-Il, Lim Sung-Kil
Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Clin Endocrinol (Oxf). 2005 Dec;63(6):625-30. doi: 10.1111/j.1365-2265.2005.02387.x.
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare and unusual cause of Cushing's syndrome, characterized by bilateral nodular adrenocortical hyperplasia and hypersecretion of cortisol. Familial AIMAH has rarely been reported. Recently, the aberrant expression of adrenal receptors for various ligands in AIMAH patients has become important in explaining the pathogenesis of AIMAH. In this study, we present the cases of two sisters who were affected with AIMAH.
Two sisters, aged 46 and 58, respectively, at the time of diagnosis, were found to have Cushing's syndrome due to AIMAH. We performed provocation tests with various materials and reverse transcription polymerase chain reaction (RT-PCR) with their resected adrenal tissues to examine the hyper-responsiveness to steroidogenesis and the overexpression of related receptors, respectively.
Provocation tests in vivo indicated that arginine vasopressin (AVP) promoted cortisol secretion through vasopressin V1a as well as V1b and V2 receptors. RT-PCR analysis revealed an abnormal cDNA expression of vasopressin V1b and V2 receptors, none of which is known to be normally expressed in the adrenal glands.
The expression of ectopic vasopressin V1b and V2 receptors may be involved in the aetiology of AIMAH, at least in the case of the sibling patients presented here.
促肾上腺皮质激素非依赖性大结节性肾上腺增生（AIMAH）是库欣综合征一种罕见且特殊的病因，其特征为双侧结节性肾上腺皮质增生及皮质醇分泌过多。家族性AIMAH鲜有报道。近来，AIMAH患者中各种配体的肾上腺受体异常表达在解释AIMAH发病机制方面变得至关重要。在本研究中，我们报告了两例患AIMAH的姐妹病例。
诊断时分别为46岁和58岁的两姐妹因AIMAH患有库欣综合征。我们用各种物质进行激发试验，并对她们切除的肾上腺组织进行逆转录聚合酶链反应（RT-PCR），分别检测对类固醇生成的高反应性及相关受体的过表达情况。
体内激发试验表明，精氨酸加压素（AVP）通过血管加压素V1a以及V1b和V2受体促进皮质醇分泌。RT-PCR分析显示血管加压素V1b和V2受体存在异常cDNA表达，而这些受体在肾上腺中正常情况下均不表达。
异位血管加压素V1b和V2受体的表达可能参与了AIMAH的病因，至少在本文所呈现的姐妹患者病例中如此。
