Marie-Odile North

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome

Lætitia Martinerie, Jérôme Bouligand, Marie-Odile North, Jérôme Bertherat et autres

Cushing's syndrome is due to overproduction of cortisol, leading to abnormal and prolonged exposure to cortisol. The most common etiology is Cushing disease, while adrenal causes are rarer. Knowledge of the genetics of Cushing's syndrome, and particularly the adrenal causes, has improved …

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Increased frequency of breast cancer in young Carney Complex patients suggests a role for inactivation of the tumor suppressor gene PRKAR1A

Patricia Vaduva, Florian Violon, Jouinot Anne Anne, Lucas Bouys et autres

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Description of 38 novel ARMC5 variants and review of the literature: the updated mutational landscape of ARMC5 in Bilateral Macronodular Adrenocortical Disease

Lucas Bouys, Anna Vaczlavik, Cavalcante Isadora Pontes, Florian Violon et autres

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

OR12-3 Identification of Predictive Criteria for the Primary Bilateral Macronodular Adrenal Hyperplasia Gene ARMC5: A European Series of 352 Unselected Patients.

Guillaume Assié, Jérôme Bertherat, Fidéline Bonnet-Serrano, Françoise Borson‐Chazot et autres

Abstract Objective Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by adrenal macronodules and variable levels of cortisol excess, with not clearly established clinical diagnostic criteria. PBMAH can be caused by germline inactivating variants of the tumor suppressor gene …

OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia

Roberta Armignacco, Guillaume Assié, Maxime Barat, Jérôme Bertherat et autres

Abstract Introduction Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by bilateral adrenal macronodules responsible for adrenal Cushing. To date, two genetic causes of PBMAH are known: germline inactivating variants of the tumor suppressor genes ARMC5 identified in 2013 …

Integrated genomics reveals the molecular classification of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), correlating with specific profiles of illegitimate receptors expression and identifies KDM1A as the genetic cause of food-dependent Cushing syndrome

Lucas Bouys, Florian Violon, Anna Vaczlavik, Giannone Gaetan et autres

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

Lucas Bouys, Anna Vaczlavik, Anne Jouinot, Patricia Vaduva et autres

Objective: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a heterogeneous disease characterized by adrenal macronodules and variable levels of cortisol excess, with not clearly established clinical diagnostic criteria. It can be caused by ARMC5 germline pathogenic variants. In this study, we aimed …

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Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease

Clément Mennetrey, Maëlle Le Bras, Aurélie Bando-Delaunay, Laure Al-Mansour et autres

CONTEXT: Despite the growing evidence of the clinical value of somatostatin receptor (SSTR) positron emission tomography (PET) in the evaluation of neuroendocrine tumors (NETs), its role remains to be clarified at different time points in the journey of patients with multiple endocrine …

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Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant

Thomas Huby, Édouard Le Guillou, Cyril Burin des Roziers, Laurence Pacot et autres

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity of MEN1 variants complexifies the selection of the patients likely to benefit from specific care. OBJECTIVE: MEN1-mutated …

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KDM1A inactivation causes hereditary food-dependent Cushing syndrome

Anna Vaczlavik, Lucas Bouys, Florian Violon, Giannone Gaetan et autres

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LSD1/KDM1A Inactivation Causes Hereditary Food-Dependent Cushing’s Syndrome

Anna Vaczlavik, Lucas Bouys, Florian Violon, Giannone Gaetan et autres

fr, de, br, us (code pays fourni par la source)

Identification of clinical parameters predictive of ARMC5 mutation in a large cohort of primary bilateral macronodular adrenal hyperplasia (PBMAH) patients.

Lucas Bouys, Anna Vaczlavik, Patricia Vaduva, Stéphanie Espiard et autres

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)