Cushing’s syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome

Kirk, Jeremy; Brain, Caroline; Carson, Dennis; Hyde, John C.; Grant, D B

doi:10.1016/s0022-3476(99)70302-1

Cited by 147 publications

(89 citation statements)

References 7 publications

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“…This classical definition, however, does not hold for patients with partial and atypical forms of the syndrome (8, 10). A single endocrinopathy other than precocious puberty, such as isolated Cushing’s syndrome in the neonatal period, might be the first manifestation of MAS (11,12). Fortunately, endocrine manifestations serve to increase the awareness of the physician and lead to a more detailed diagnostic assessment.…”

Section: Discussionmentioning

confidence: 99%

“…In Khanna et al’s (7) and Arrigo et al’s (20) studies, two boys presenting with unilateral macroorchidism underwent testicular biopsy in order to exclude malignancy. Ovarian cysts that can be encountered in MAS cases may also require invasive measures like laparotomy (12,21) (Table 1). In a European Collaborative Study, 113 patients who showed at least one of the signs of MAS were investigated with regard to activating Gsα mutations.…”

Section: Discussionmentioning

confidence: 99%

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McCune-Albright Syndrome Mimicking Malignancy: an Endocrine Disease From Oncologist’s Perspective

Genc

Özkan²,

Büyükgebiz³

2012

Jcrpe

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Fibrous dysplasia (FD) is categorized as either monostotic or polyostotic and may occur as a component of McCune-Albright syndrome (MAS). Imaging findings can mimic neoplastic diseases. We present a case of MAS initially suspected to have neoplastic disease. A 9-year-old girl was admitted to pediatric emergency with ataxia. Upon hospitalization, an extradural mass was seen on cranial magnetic resonance imaging (MRI) and the bone survey showed lytic lesions in the long bones. The patient was referred to the pediatric oncology department with a presumptive diagnosis of Langerhans cell histiocytosis or metastatic tumor. Further investigations demonstrated that the patient had MAS and coexisting postinfectious cerebellitis. The findings in this patient demonstrate that the radiographic findings and the clinical presentation of FD and MAS may be similar to those of malignant diseases. Conflict of interest:None declared.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

McCune-Albright Syndrome Mimicking Malignancy: an Endocrine Disease From Oncologist’s Perspective

Genc

Özkan²,

Büyükgebiz³

2012

Jcrpe

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“…Although high-dose dexamethasone suppression test suggested the existence of some autonomous cortisol production from the preserved adrenal gland, we have observed the patient carefully without excising the gland for the following reasons: first, other normal data, such as 24 hr urinary cortisol, diurnal rhythm of ACTH and cortisol, and ACTH and cortisol responses to CRH, indicated that autonomous cortisol production was not abundant. Secondly, spontaneous resolution of Cushing's syndrome has been reported in children [12]. Finally, his clinical symptoms, such as the Cushingoid appearance and height restriction, have improved.…”

Section: Fig 3 Changes In Diurnal Rhythm Of Acth (A) and Cortisol (Bmentioning

confidence: 90%

“…Bilateral adrenalectomy is usually performed, because, typically, both adrenal glands are affected. On the other hand, spontaneous resolution and prolonged remission after the therapy with metyrapone and aminoglutethimide have been reported in children [12,13]. Considering that MAS is caused by somatic mutation of the GNAS1 gene, non-affected adrenal tissue is possible, particularly in smaller gland.…”

Section: Fig 3 Changes In Diurnal Rhythm Of Acth (A) and Cortisol (Bmentioning

confidence: 99%

Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTHindependent macronodular adrenal hyperplasia with McCune-Albright syndrome

Hamajima¹,

Maruwaka²,

Homma

et al. 2010

Endocr J

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“…The equal gender distribution also contrasts with the female predominance in most cause of endogenous CS (7). CS with bilateral adrenal nodules can rarely develop during the first years of life in patients with McCune-Albright syndrome (8).…”

Section: Epidemiologymentioning

confidence: 96%

Cushing's syndrome secondary to ACTH-Independent macronodular adrenal hyperplasia

Costa

Lacroix

2007

Arq Bras Endocrinol Metab

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ACTH-Independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of endogenous Cushing's syndrome (CS), in which clinical features usually become apparent only after several decades of life. This form of adrenal hyperplasia typically produces excess cortisol with overt or subclinical CS, but concurrent secretion of mineralocorticoids or sexual steroids can also occur. The diagnosis is suspected by bilateral adrenal nodules larger than 1 cm on incidental imaging studies or following the demonstration of ACTH-independent hormonal hypersecretion. The pathophysiology of this entity is heterogeneous and has been intensely explored in recent years. Several G-protein coupled receptors aberrantly expressed in the adrenal cortex have been implicated in the regulation of steroidogenesis and in the initial cell proliferation in AIMAH. Several familial cases of AIMAH have been recently described with the same pattern of aberrant hormone receptors in all affected members of the family. It is probable that additional somatic genetic events related to cell cycle regulation, adhesion and transcription factors occur in addition over time in the various nodules; other mechanisms, as Gsp or ACTH receptor mutations and paracrine adrenal hormonal secretion have been rarely identified as the molecular mechanism in some cases. When systematically screened, most patients with AIMAH exhibit an in vivo aberrant cortisol response to one or various ligands suggesting the presence of aberrant adrenal receptors. The identification of these receptors creates the possibility of a specific pharmacological treatment isolated or associated with adrenalectomy. A hiperplasia adrenal macronodular independente de ACTH (AIMAH) é uma causa rara de síndrome de Cushing (SC) endógena, na qual alguns aspectos clínicos só se tornam evidentes depois de várias décadas de vida. Esta forma de hiperplasia adrenal caracteristicamente produz excesso de cortisol resultando na síndrome de Cushing franca ou subclínica, embora a secreção concomitante de mineralocorticóide, estrógeno e andrógenos também possa ocorrer. A suspeita diagnóstica é feita pela presença de nódulos adrenais bilaterais maiores que 1 cm, como achado incidental em exames de imagem ou pela demonstração de hipersecreção hormonal independente de ACTH. A fisiopatologia desta doença é heterogênea e tem sido intensamente estudada nos últimos anos. Vários receptores acoplados à proteína G, com expressão aberrante no córtex adrenal, têm sido implicados na regulação da esteroidogênese e no início da proliferação celular que ocorre na AIMAH. Diversos casos familiais de AIMAH foram recentemente descritos, e um mesmo padrão de expressão anormal dos receptores aberrantes foi observado em todos os membros afetados das famílias investigadas. Ao longo do tempo, é provável que ocorram, nos nódulos, eventos genéticos adicionais relacionados à regulação do ciclo celular, adesão e fatores de transcrição. Outros mecanismos moleculares, como mutações nos genes da proteína Gsα e do receptor de ACTH, ou ...

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Cushing’s syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome

Cited by 147 publications

References 7 publications

McCune-Albright Syndrome Mimicking Malignancy: an Endocrine Disease From Oncologist’s Perspective

McCune-Albright Syndrome Mimicking Malignancy: an Endocrine Disease From Oncologist’s Perspective

Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTHindependent macronodular adrenal hyperplasia with McCune-Albright syndrome

Cushing's syndrome secondary to ACTH-Independent macronodular adrenal hyperplasia

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