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Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia

 Sihoon Lee  ;  Ranjoo Hwang  ;  Junho Lee  ;  Yumie Rhee  ;  Dae Jung Kim  ;  Ung-il Chung  ;  Sung-Kil Lim 
 CLINICAL ENDOCRINOLOGY, Vol.63(6) : 625-630, 2005 
Journal Title
Issue Date
Adrenal Glands/diagnostic imaging ; Adrenal Glands/metabolism* ; Adrenal Hyperplasia, Congenital/diagnostic imaging ; Adrenal Hyperplasia, Congenital/genetics* ; Adrenal Hyperplasia, Congenital/metabolism* ; Arginine Vasopressin ; Female ; Gene Expression ; Humans ; Hydrocortisone/blood ; Hydrocortisone/metabolism ; Middle Aged ; Pedigree ; RNA, Messenger/analysis ; Receptors, Vasopressin/genetics ; Receptors, Vasopressin/metabolism* ; Reverse Transcriptase Polymerase Chain Reaction ; Tomography, X-Ray Computed
OBJECTIVE: 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. PATIENTS AND MEASUREMENTS: 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. RESULTS: 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. CONCLUSION: 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.
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1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dae Jung(김대중)
Lee, Si Hoon(이시훈)
Rhee, Yumie(이유미) ORCID logo https://orcid.org/0000-0003-4227-5638
Lee, Jun Ho(이준호)
Lim, Sung Kil(임승길)
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