ARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia
Author(s) -
Guilherme Asmar Alencar,
Antônio Marcondes Lerário,
Mirian Yumie Nishi,
Beatriz Marinho de Paula Mariani,
Madson Q. Almeida,
Johanne Tremblay,
Pavel Hamet,
Isabelle Bourdeau,
Maria Cláudia Nogueira Zerbini,
Maria Adelaide Albergaria Pereira,
Gilberto Carlos Gomes,
Manoel de Souza Rocha,
Jose L Chambô,
André Lacroix,
Berenice B. Mendonça,
Maria Candida Barisson Villares Fragoso
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2013-4237
Subject(s) - hyperplasia , medicine , mutation , pathology , endocrinology , biology , genetics , gene
Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, usually characterized by functioning adrenal macronodules and increased cortisol production. Familial clustering of PMAH has been described, suggesting an inherited genetic cause for this condition.
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