Primary pigmented nodular adrenocortical disease and Cushing's syndrome

Horvath, Anélia; Stratakis, Constantine A.

doi:10.1590/s0004-27302007000800009

Cited by 31 publications

(29 citation statements)

References 42 publications

(58 reference statements)

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“…Patients with PPNAD tend to be rather lean and present without the typical central obesity seen in other causes of Cushing's syndrome. Severe osteoporosis, short stature, and severe muscle wasting are common presenting features of patients with PPNAD [39].…”

Section: Primary Pigmented Nodular Adrenocortical Diseasementioning

confidence: 99%

Cushing's syndrome of nonpituitary causes

Carroll

Findling²

2009

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Section: Primary Pigmented Nodular Adrenocortical Diseasementioning

confidence: 99%

Cushing's syndrome of nonpituitary causes

Carroll

Findling²

2009

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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“…The most common endocrine manifestation of CNC is CS due to PPNAD. Ninety percent of the cases of CNC occur in families and only 10% are isolated [10,11,14]. The diagnostic criteria for CNC have been well described by Stratakis [14].…”

Section: Introductionmentioning

confidence: 98%

“…Morphologically, the adrenals contain multiple small-pigmented cortisol-producing adrenocortical nodules, circumscribed by cortical atrophy [3,6,10]. PPNAD may occur in an isolated form, but it is often associated with the Carney Complex (CNC) [10,11].…”

Section: Introductionmentioning

confidence: 99%

“…Two genetic loci on chromosomes 17q22-24 and 2p16 are implicated in CNC [10,12,[15][16][17]. While the gene on chromosome 2 remains unknown, analysis of the 17q22-24 region in patients with CNC revealed inactivating germline mutations in PRKAR1A, the gene coding for the type 1-a regulatory subunit of cAMP-dependent protein kinase A (PKA) [12].…”

Section: Introductionmentioning

confidence: 99%

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Children with Cushing’s syndrome: primary pigmented nodular adrenocortical disease should always be suspected

et al. 2010

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Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). For the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended. The aims of the present study are to discuss the clinical and molecular findings of two Brazilian patients with ACTH-independent CS due to PPNAD and to show the diagnostic challenge CS represents in childhood. Description of two patients with CS and the many sequential steps for the diagnosis of PPNAD is provided. Sequencing analysis of all coding exons of PRKAR1A in the blood, frozen adrenal nodules (patients 1 and 2) and testicular tumor (patient 1) is performed. After several clinical and laboratory drawbacks that misled the diagnostic investigation in both patients, the diagnosis of PPNAD was finally established and confirmed through pathology and molecular studies. In patient 1, sequencing of PRKAR1A gene revealed a novel heterozygous 10-bp deletion in exon 3, present in his blood, adrenal gland and testicular tumor. The etiologic diagnosis of endogenous CS in children is a challenge that requires expertise and a multidisciplinary collaboration for its prompt and correct management. Although rare, PPNAD should always be considered among the possible etiologies of CS, due to the high prevalence of this disease in this age group.

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“…Primary pigmented nodular adrenocortical disease (PPNAD), a rare cause of ACTHindependent Cushing syndrome, is the main endocrine manifestation of Carney complex (1,2). Mutations of the gene encoding protein kinase A regulatory subunit 1α (PRKAR1A) represent the molecular aetiology of approximately 41% of the kindreds affected by Carney complex (3)(4)(5)(6).…”

Section: Introductionmentioning

confidence: 99%

Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X

Almeida

Brito

Domenice

et al. 2008

Arq Bras Endocrinol Metab

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Objective: Primary pigmented nodular adrenocortical disease (PPNAD) is the main endocrine manifestation of Carney complex, a multiple neoplasia syndrome caused by PRKAR1A gene mutations. The presence of PRKAR1A loss of heterozygosity (LOH) in adrenocortical tumorigenesis remains controversial. The aim of the present study is to investigate the presence of PRKAR1A LOH in adrenocortical cells in a patient with Carney complex. Methods: The LOH was investigated using a PRKAR1A informative intragenic marker by GeneScan software analysis in DNA obtained from laser-captured microdissected cells of several adrenal nodules. Patients: A young adult male patient with Carney complex and his family were studied. Results: A novel heterozygous mutation (p. Y21X) was identifi ed at PRKAR1A in blood DNA of the male proband and his relatives. No PRKAR1A LOH was evidenced in the laser-captured microdissected cells from PPNAD tissue by different methodologies. Conclusion:We identifi ed a new PRKAR1A nonsense mutation and in addition we did not evidence PRKAR1A LOH in laser-captured nodules cells, suggesting that adrenocortical tumorigenesis in PPNAD may occurs apart from the second hit.

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Primary pigmented nodular adrenocortical disease and Cushing's syndrome

Cited by 31 publications

References 42 publications

Cushing's syndrome of nonpituitary causes

Cushing's syndrome of nonpituitary causes

Children with Cushing’s syndrome: primary pigmented nodular adrenocortical disease should always be suspected

Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X

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