Familial vasopressin‐sensitive ACTH‐independent macronodular adrenal hyperplasia (VPs‐AIMAH): clinical studies of three kindreds

Gagliardi, Lucia; Hotu, Cheri; Casey, G.; Braund, Wilton; Ling, King-Hwa; Dodd, Thomas J.; Manavis, James; Devitt, Peter G.; Cutfield, Richard; Rudzki, Zbigniew; Scott, Hamish S.; Torpy, David J.

doi:10.1111/j.1365-2265.2008.03471.x

Cited by 41 publications

(44 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A French family with BMAH was found to have aberrant 5-HT 4 and vasopressin adrenal receptors in three siblings (two females of 54 and 56 years old, and one 57-year-old male) and their 81-year-old father (9). Very recently, in an Australian kindred carrying an ARMC5 mutation, vasopressin-responsive BMAH was present in seven members of the family (23); two other Australian BMAH families with partial endocrine investigation suggested vasopressin responsiveness in a father and a son in one family, and in three siblings in the second family (10). In contrast to the family in this study, these authors found no correlations between DST or vasopressin and the diagnosis of BMAH ascertained by adrenal imaging.…”

Section: European Journal Of Endocrinologymentioning

confidence: 99%

“…Rarely, CS is secondary to primary bilateral adrenal hyperplasias (!2%), and this includes primary bilateral macronodular adrenal hyperplasia (BMAH) (2). Most BMAH cases were initially reported as sporadic, but more than ten kindreds of familial BMAH were reported in recent years, and in all cases their presentation suggested an autosomal dominant mode of transmission (3,4,5,6,7,8,9,10). The true prevalence of hereditary BMAH may have been underestimated because familial screening was not performed systematically (2).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia

Bourdeau

Oble²,

Magne³

et al. 2016

European Journal of Endocrinology

View full text Add to dashboard Cite

Background: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome (CS) and its familial clustering has been described previously. Recent studies identified that ARMC5 mutations occur frequently in BMAH, but the relation between ARMC5 mutation and the expression of aberrant G-protein-coupled receptor has not been examined in detail yet. Methods: We studied a large French-Canadian family with BMAH and sub-clinical or overt CS. Screening was performed using the 1-mg dexamethasone suppression test (DST) in 28 family members. Screening for aberrant regulation of cortisol by various hormone receptors were examined in vivo in nine individuals. Sequencing of the coding regions of ARMC5 gene was carried out. Results: Morning ambulating cortisol post 1 mg DST were O50 nmol/l in 5/8 members in generation II (57-68 years old), 9/22 in generation III (26-46 years old). Adrenal size was enlarged at different degrees. All affected patients increased cortisol following upright posture, insulin-induced hypoglycemia and/or isoproterenol infusion. b-blockers led to the reduction of cortisol secretion in all patients with the exception of two who had adrenalectomies because of b-blockers intolerance. We identified a heterozygous germline variant in the ARMC5 gene c.327_328insC, (p.Ala110Argfs*9) in nine individuals with clinical or subclinical CS, in four out of six individuals with abnormal suppression to dexamethasone at initial investigation and one out of six individuals with current normal clinical screening tests. Conclusions: Systematic screening of members of the same family with hereditary BMAH allows the diagnosis of unsuspected subclinical CS associated with early BMAH. The relation between the causative ARMC5 mutation and the reproducible pattern of aberrant b-adrenergic and V 1 -vasopressin receptors identified in this family remains to be elucidated.

show abstract

Section: European Journal Of Endocrinologymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia

Bourdeau

Oble²,

Magne³

et al. 2016

European Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

“…However, several reports of familial cases with autosomal dominant transmission patterns have been published suggesting germline genetic etiology (32,77,78,79,80,81,82,83). In familial BMAH without other genetic syndrome (such as MEN-1, polyposis coli), specific aberrant GPCR including vasopressin, b-adrenergic and HT4 receptors were found in all members from the same family; in contrast, in one large Brazilian family, the pattern of aberrant receptors varied between the different affected members (27,32,77,78,79,80,81,82,83). The relation between ARMC5 mutation and aberrant GPCR has not been examined in detail yet.…”

Section: Aberrant Gpcr In Familial Cases Of Bmahmentioning

confidence: 99%

Multiple aberrant hormone receptors in Cushing's syndrome

Ghorayeb

Bourdeau

Lacroix

2015

European Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

“…The great originality in PBMAH resides in the cortisol response to non-physiological stimuli, giving birth to the concept of illegitimate membrane receptors in adrenocortical cells. Various stimulating ligands, binding to protein G-coupled receptors were described, including glucose-dependent insulinotropic peptide (GIP) responsible for food-dependent Cushing syndrome (Reznik et al 1992), LH/HCG responsible for Cushing syndrome during pregnancy and after menopause (Lacroix et al 1999), vasopressin, catecholamines, serotonin 5-HT, angiotensin II (ang II) and glucagon (Imöhl et al 2002, Miyamura et al 2002, Lee et al 2005, Vezzosi et al 2007, Gagliardi et al 2009, Hofland et al 2013. The prevalence of such illegitimate membrane receptors in PBMAH is high, varying from 77% to 87% among studies , Hofland et al 2013.…”

Section: Primary Bilateral Macronodular Adrenal Hyperplasia (Pbmah)mentioning

confidence: 99%

Genetics of tumors of the adrenal cortex

Bonnet-Serrano

Bertherat

2018

Endocrine-Related Cancer

View full text Add to dashboard Cite

This review describes the molecular alterations observed in the various types of tumors of the adrenal cortex, excluding Conn adenomas, especially the alterations identified by genomic approaches these last five years. Two main forms of bilateral adrenocortical tumors can be distinguished according to size and aspect of the nodules: primary pigmented nodular adrenal disease (PPNAD), which can be sporadic or part of Carney complex and primary bilateral macro nodular adrenal hyperplasia (PBMAH). The bilateral nature of the tumors suggests the existence of an underlying genetic predisposition. PPNAD and Carney complex are mainly due to germline-inactivating mutations of PRKAR1A, coding for a regulatory subunit of PKA, whereas PBMAH genetic seems more complex. However, genome-wide approaches allowed the identification of a new tumor suppressor gene, ARMC5, whose germline alteration could be responsible for at least 25% of PBMAH cases. Unilateral adrenocortical tumors are more frequent, mostly adenomas. The Wnt/beta-catenin pathway can be activated in both benign and malignant tumors by CTNNB1 mutations and by ZNRF3 inactivation in adrenal cancer (ACC). Some other signaling pathways are more specific of the tumor dignity. Thus, somatic mutations of cAMP/PKA pathway genes, mainly PRKACA, coding for the catalytic alpha-subunit of PKA, are found in cortisol-secreting adenomas, whereas IGF-II overexpression and alterations of p53 signaling pathway are observed in ACC. Genomewide approaches including transcriptome, SNP, methylome and miRome analysis have identified new genetic and epigenetic alterations and the further clustering of ACC in subgroups associated with different prognosis, allowing the development of new prognosis markers.

show abstract

Familial vasopressin‐sensitive ACTH‐independent macronodular adrenal hyperplasia (VPs‐AIMAH): clinical studies of three kindreds

Cited by 41 publications

References 35 publications

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia

Multiple aberrant hormone receptors in Cushing's syndrome

Genetics of tumors of the adrenal cortex

Contact Info

Product

Resources

About