Guérison d’un syndrome de Cushing révélateur d’un syndrome de McCune-Albright

Halioui-Louhaïchi, Sonia; Dridi, Y.; Azzabi, O.; Selmi, I.; Fetni, I.; Siala, N.; Maherzi, A.

doi:10.1016/j.arcped.2015.09.018

Cited by 3 publications

(1 citation statement)

References 10 publications

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“…Отсутствие визуализации объем-ных образований надпочечников не может служить причиной отказа от адреналэктомии. Учитывая воз-можность спонтанной ремиссии, в некоторых пу-бликациях допускается возможность пробного ис-пользования ингибиторов стероидогенеза перед ра-дикальным лечением [10] Однако не ясно, каким образом следует тогда вести пациента в дальнейшем, поскольку при отмене ингибиторов стероидогенеза очень вероятен рецидив гиперкортицизма. Данный вопрос требует дальнейшего анализа и обобщения мирового клинического опыта.…”

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Сushing’s syndrome in early infancy due to МcCune—Albright syndrome

Makazan

Викторовна²,

Orlova

et al. 2016

Probl Endokrinol (Mosk)

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McCune—Albright syndrome (MAS) is a rare multisystem disorder, classically defined by the clinical triad of fibrous dysplasia of bones (FD), café-au-lait skin spots, precocious puberty (PP) and other hyperfunctioning endocrinopathies. Diagnosis can be made if there are at least 2 of the 3 classical features. It is caused by somatic mutations of the GNAS gene encodes stimulate α-subunit of G protein (Gas). Gas is crucial for mediating effects of the lot of peptide hormones. Increased activity of Gas leads to multisystem hyperfunction. Some features are common (such as gonadotropin-independent precocious puberty) and another signs occur seldom. The clinical presentation of MAS is variable, the features occur at the different age. One of the rare feature of the MAS is Cushing’s syndrome due to bilateral adrenal hyperplasia, which usually occurs in the neonatal period. We describe clinical case of ACTH-independent hypercortisolism in the boy with MAS.

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Section: Discussionunclassified

Сushing’s syndrome in early infancy due to МcCune—Albright syndrome

Makazan

Викторовна²,

Orlova

et al. 2016

Probl Endokrinol (Mosk)

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Metyrapone in Cushing’s syndrome: a profile of its use

Al-Salama

2021

Drugs Ther Perspect

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Metyrapone (Metopirone ® ), a pyridine derivative, is a useful treatment option for the management of patients with endogenous Cushing's syndrome, based on evidence from more than six decades of its use in clinical practice, prospective and retrospective studies, as well as case reports. Metyrapone is associated with a rapid onset of action and is effective in reducing cortisol levels and improving clinical and/or biochemical features and cortisol-related comorbidities of Cushing's syndrome. The efficacy of metyrapone was demonstrated in all aetiologies of the condition, when used in a range of clinical settings (including presurgery treatment and when used in combination with other drugs) and in the short and long term. Metyrapone is generally well tolerated when used in the treatment of patients with endogenous Cushing's syndrome, with gastrointestinal adverse events being the most commonly reported. Plain Language SummaryEndogenous Cushing's syndrome is a rare disease, resulting from cortisol hypersecretion, and is associated with substantial morbidity and mortality. Surgery is the mainstay treatment for the majority of patients with Cushing's syndrome; however, medical therapy is increasingly being used, particularly when surgery is not indicated or is unsuccessful, or while waiting for radiotherapy to be effective. Oral metyrapone (Metopirone ® ), a pyridine derivative, is approved for the management of endogenous Cushing's syndrome in the EU. Evidence for the efficacy of metyrapone in the treatment of Cushing's syndrome has been demonstrated in prospective and retrospective studies. Metyrapone has a rapid onset of action (≈ 2 h), reduces cortisol levels, improves the clinical and/or biochemical features and cortisol-related comorbidities of the disease, and demonstrates sustained efficacy in the long term; the efficacy of metyrapone is evident in a range of clinical settings. Metyrapone is generally well tolerated in patients with endogenous Cushing's syndrome. Given its efficacy and tolerability profile, metyrapone is a useful treatment option for the management of patients with endogenous Cushing's syndrome.

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Metyrapone as treatment in the neonatal McCune–Albright syndrome

Mingo

Brugada

León

et al. 2020

Journal of Pediatric Endocrinology and Metabolism

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ObjectivesTo present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies, bone dysplasia, and café-au-lait spots.Case presentationA preterm newborn was admitted to hospital and she presented difficulty controlling hypertension, café-au-lait spots, and failure to thrive. An abdominal ultrasound and a magnetic resonance showed a high volume of both suprarenal glands. Therefore, MAS was suspected. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing’s syndrome with hepatic dysfunction and metyrapone treatment was initiated. A progressive normalization of cortisol levels was achieved despite poor oral tolerance.ConclusionOur case shows that metyrapone is useful in the management of neonatal Cushing’s syndrome due to McCune–Albright syndrome.

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Guérison d’un syndrome de Cushing révélateur d’un syndrome de McCune-Albright

Cited by 3 publications

References 10 publications

Сushing’s syndrome in early infancy due to МcCune—Albright syndrome

Сushing’s syndrome in early infancy due to МcCune—Albright syndrome

Metyrapone in Cushing’s syndrome: a profile of its use

Metyrapone as treatment in the neonatal McCune–Albright syndrome

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