Primary Adrenocortical Nodular Dysplasia: A Rare Cause of Cushing's Syndrome<sup>1</sup>

Meador, Clifton K.; Bowdoin, Braxton; Owen, William C.; Farmer, T. Albert

doi:10.1210/jcem-27-9-1255

Cited by 103 publications

(28 citation statements)

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“…Although the existence of the complex as an unrecognized, inherited syndrome was first suggested in 1985 (16,17), combinations of several components of the syndrome, and their familial occurrence had been reported earlier. Thus, the pathologic findings of the adrenal glands, multiple, small, pigmented, adrenocortical nodules and internodular cortical atrophy, were described in children and young adults with Cushing syndrome as early as in 1949 (18)(19)(20)(21)(22). Similarly, by then, several familial cases of cutaneous and cardiac myxomas associated with lentigines (lentigo simplex) or ephelides and blue nevi of the skin and mucosae had been described under the acronyms, NAME (for nevi, atrial myxoma, myxoid neurofibromata, and ephelides) and LAMB (for lentigines, atrial myxoma, mucocutaneous myxoma, blue nevi) syndromes (16,17,(23)(24)(25)(26)(27)(28)(29)(30).…”

Section: Introductionmentioning

confidence: 99%

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Stratakis

Carney²,

Lin³

et al. 1996

J. Clin. Invest.

428

217

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Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and lentiginosis. The genetic defect(s) responsible for the complex remain(s) unknown. We studied 101 subjects, including 51 affected members, from 11 North American kindreds with Carney complex. Blood samples were collected from patients and their family members. Hospital records, photographs, and tissue specimens of deceased individuals were reviewed. DNA was extracted from blood samples, patient-derived cell lines, and/ or paraffin-embedded tissues. Linkage analysis was performed with highly polymorphic microsatellite markers, distributed over areas of the human genome harboring the most likely candidate genes. The most prevalent clinical manifestation in patients with Carney complex was spotty skin pigmentation, similar to that observed in Peutz-Jeghers and other lentiginosis syndromes. Skin and cardiac myxomas, Cushing syndrome, and acromegaly were present in 62, 30, 31, and 8 percent of the patients, respectively. Linkage was obtained for three markers on the short arm of chromosome 2 (2p16), with a maximum two-point lod score of 5.97 at ϭ 0.03 for the marker CA-2 (odds in favor of linkage 10 6 :1). The flanking markers CA7 and D2S378 defined a region of ‫ف‬ 6.4 cM that is likely to contain the gene(s) associated with Carney complex. Candidate genes in the proximity, including the propiomelanocortin and the DNA-mismatch repair hMSH2 genes, were excluded. We conclude that the genetic defect(s) responsible for Carney complex map(s) to the short arm of chromosome 2 (2p16). This region has exhibited cytogenetic aberrations in atrial myxomas associated with the complex, and has been characterized by microsatellite instability in human neoplasias.

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Section: Introductionmentioning

confidence: 99%

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Stratakis

Carney²,

Lin³

et al. 1996

J. Clin. Invest.

428

217

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“…The adrenal lesion appears to be a malformation rather than a tumor. Hence, the term primary adrenocortical dysplasia, as suggested by Meador et al (1967), seems appropriate. In the few cases of familial Cushing's syndrome observed to date the underlying adrenocortical lesion was nearly always primary adrenocortical nodular dysplasia (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Primary adrenocortical nodular dysplasia with Cusghing's syndrome and cardiac myxomas

Schweizer-Cagianut

Salomon

Hedinger

1982

Virchows Arch. A Path. Anat. and Histol.

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In a family with 4 children, 2 had slowly developing Cushing's syndrome and were adrenalectomized between the ages of 18 and 28 years. As in other cases with familial Cushing's syndrome, primary adrenocortical nodular dysplasia, the so-called adrenocortical adenomatosis, was demonstrated. The brother, now 39 years old, is in good health. The sister, however, died at the age of 36 years. Autopsy revealed a cardiac myxoma of the left atrium. A cardiac myxoma had been found incidentally at autopsy of these two patients' oldest brother, a boy who died at the age of 4 years. Both siblings with Cushing's syndrome presented additional Peutz-Jegher-like hyperpigmentation and myxomatous tumours of the skin. Identical observations of familial adrenocortical nodular dysplasia, Cushing's syndrome and cardiac myxomas have not been reported to date. However, the familial occurrence of cardiac myxomas and adrenocortical dysplasia in combination with bilateral large cell calcifying Sertoli cell tumours of the testis has been published recently.

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“…Larsen and coworkers (1986) state that "nodular adrenal disease represents a confusion of terms in the literature". The confusing terminology stems from the plurality of terminology, NAP being interchangeably termed: micronodular adrenal disease (Ruder et al, 1974); primary adrenal nodular dysplasia (Meador et al, 1967;McArthur et al, 1982); bilateral adenomatous adrenal hyperplasia (Levin, 1966); adrenal polymicroadenomatosis (Bricaire et al, 1970;De Gennes et al, 1970); adrenocortical microadenomatosis (SchweizerCangianut et el., 1980); adrenocortical multinodular hyperplasia (Klevit et al, 1966;Donaldson et al, 1981). In our opinion, the major concern is not semantic.…”

Section: Adrenalmentioning

confidence: 99%

"GIANT" Macronodular Adrenal Hyperplasia Causing Cushing's Syndrome: Case Report and Review of the Literature on a Clinical Distinction of Adrenocortical Nodular Pathology Associated with Hypercortisolism.

Cugini¹,

Battisti²,

Palma³

et al. 1989

Endocrinol Japon

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Cushing's syndrome (CS) may be sustained by a nodular adrenocortical pathology (NAP) in addition to hyperplastic or neoplastic lesions of adrenal glands. NAP, in turn, may be represented by macronodular (MACRO) or micronodular (MICRO) manifestations.There is debate as to whether the MACRO-NAP and MICRO-NAP represent an expression of the same disorder or relate to distinguishable anatomo-clinical entities. A case of CS sustained by a "giant" MACRO-NAP forced us to review the literature and to analyze the morpho-clinical findings from a statistical viewpoint. Testing procedures were able to significantly dissect some clinical, pathological and hormonal characteristics.The statistical probation clearly indicated that MACRO-NAP and MICRO-NAP causing CS are nosologic entities that can be clinically differentiated via their phenotypic symptomatology.

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Primary Adrenocortical Nodular Dysplasia: A Rare Cause of Cushing's Syndrome¹

Cited by 103 publications

References 0 publications

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Primary adrenocortical nodular dysplasia with Cusghing's syndrome and cardiac myxomas

"GIANT" Macronodular Adrenal Hyperplasia Causing Cushing's Syndrome: Case Report and Review of the Literature on a Clinical Distinction of Adrenocortical Nodular Pathology Associated with Hypercortisolism.

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Primary Adrenocortical Nodular Dysplasia: A Rare Cause of Cushing's Syndrome1

Cited by 103 publications

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Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

Primary adrenocortical nodular dysplasia with Cusghing's syndrome and cardiac myxomas

"GIANT" Macronodular Adrenal Hyperplasia Causing Cushing's Syndrome: Case Report and Review of the Literature on a Clinical Distinction of Adrenocortical Nodular Pathology Associated with Hypercortisolism.

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Primary Adrenocortical Nodular Dysplasia: A Rare Cause of Cushing's Syndrome¹