Case 121: Familial Adrenocorticotropin-independent Macronodular Adrenal Hyperplasia Causing Cushing Syndrome

Watson, Timothy D.; Patel, Shital J.; Nardi, Peter M.

doi:10.1148/radiol.2443041507

Cited by 14 publications

(8 citation statements)

References 8 publications

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“…Subclinical CS is the most common clinical manifestation of PMAH, whereas classical CS is observed during the fifth and sixth decades of life, corresponding to a later age of onset than other types of CS , Newell-Price et al 2006, Lacroix 2009). Reports of familial clustering have been described in the last several years, suggesting that familial PMAH may be inherited in an autosomal dominant manner (Findlay et al 1993, Minami et al 1996, Imohl et al 2002, Miyamura et al 2002, Nies et al 2002, Lee et al 2005, Vezzosi et al 2007, Watson et al 2007, Gagliardi et al 2009, Alencar et al 2014. However, the sporadic form of PMAH (i.e.…”

Section: Introductionmentioning

confidence: 99%

Genetics of primary macronodular adrenal hyperplasia

Fragoso¹,

Alencar²,

Lerário³

et al. 2015

Journal of Endocrinology

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ACTH-independent macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome (CS), accounting for !2% of all endogenous CS cases; however it is more frequently identified incidentally with sub-clinical cortisol secretion. Recently, cortisol secretion has been shown to be regulated by ectopic corticotropin, which is in turn produced by clusters of steroidogenic cells of the hyperplastic adrenal nodules. Hence, the term 'ACTH-independent' is not entirely appropriate for this disorder. Accordingly, the disease is designated primary macronodular adrenal hyperplasia (PMAH) in this review article. The means by which cortisol production is regulated in PMAH despite the suppressed levels of ACTH of pituitary origin is exceedingly complex. Several molecular events have been proposed to explain the enhanced cortisol secretion, increased cell proliferation, and nodule formation in PMAH. Nonetheless, the precise sequence of events and the molecular mechanisms underlying this condition remain unclear. The purpose of this review is therefore to present new insights on the molecular and genetic profile of PMAH pathophysiology, and to discuss the implications for disease progression.

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Section: Introductionmentioning

confidence: 99%

Genetics of primary macronodular adrenal hyperplasia

Fragoso¹,

Alencar²,

Lerário³

et al. 2015

Journal of Endocrinology

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“…Causes of CS in adults include Cushing's disease (pituitary-dependent bilateral adrenal hyperplasia), ectopic adrenocorticotropic hormone (ACTH) (and corticotropin-releasing hormone) production and primary adrenal disorders (adenoma, adrenocarcinoma and nodular hyperplasia). Familial forms of CS are rare (1)(2)(3), and most reported cases have been associated with nodular adrenocortical dysplasia, which exhibits an autosomal dominant inheritance pattern. We herein report the cases of a mother and daughter who presented with clinical features of CS due to adrenal adenoma.…”

Section: Introductionmentioning

confidence: 99%

Two Rare Cases of Familial (Mother and Daughter) Adrenocorticotropic Hormone-independent Cushing's Syndrome due to Adrenal Adenoma, as well as the Asynchronous Development of Another Contralateral Adrenal Adenoma in the Mother

et al. 2014

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We herein report two cases involving a mother and daughter who presented with clinical features of Cushing's syndrome (CS) at 50 and 29 years of age, respectively, and were both found to have adrenocorticotropic hormone-independent adrenal adenoma. Furthermore, a new adenoma was detected in the contralateral adrenal gland in the mother 10 years after surgical treatment, when she presented with subclinical CS. The pathogenesis of this disorder, including the presence of unknown genetic abnormalities causing hereditary CS, is currently poorly understood. In this report, we describe our experience with and consider the pathophysiological implications of two rare and very interesting cases of familial CS.

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“…A forma esporádica de apresentação da AIMAH parece ser a mais frequente (7). No entanto, já foram descritas na literatura 14 famílias com a forma herdada da doença (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). A real prevalência da forma familial da AIMAH ainda não é bem Como a AIMAH torna-se clinicamente manifesta, sobretudo, entre a quinta e sexta décadas de vida (20)(21)(22), no início do estudo, avaliou-se prioritariamente os parentes de primeiro e segundo graus do caso-índice, com idade superior a 40 anos.…”

Section: Hiperplasia Adrenal Macronodular Independente De Acthunclassified

“…Até o momento, foram descritas na literatura 14 genealogias com AIMAH familial, no entanto, nenhuma demonstrou ser muito informativa (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)…”

Section: Achados Clínicos Laboratoriais E Radiológicosunclassified

Aspectos clínicos e moleculares da hiperplasia adrenal macronodular independente de ACTH em sua forma familial

Alencar¹

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Affymetrix GeneChip Command Console AIMAH hiperplasia adrenal macronodular independente de ACTH AKT1 V-AKT murine thymoma viral oncogene homolog 1 gene AMPc adenosina 3', 5'-monofosfato cíclico APC adenomatous polyposis coli gene APC proteína adenomatous polyposis coli APR atividade plasmática de renina Arg arginina ATP adenosina trifosfato BAM22 (AP1B1) adaptor-related protein complex 1, beta-1 subunit gene bp par de base C citosina

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Case 121: Familial Adrenocorticotropin-independent Macronodular Adrenal Hyperplasia Causing Cushing Syndrome

Cited by 14 publications

References 8 publications

Genetics of primary macronodular adrenal hyperplasia

Genetics of primary macronodular adrenal hyperplasia

Two Rare Cases of Familial (Mother and Daughter) Adrenocorticotropic Hormone-independent Cushing's Syndrome due to Adrenal Adenoma, as well as the Asynchronous Development of Another Contralateral Adrenal Adenoma in the Mother

Aspectos clínicos e moleculares da hiperplasia adrenal macronodular independente de ACTH em sua forma familial

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