title: A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease.
abstract: A 40-year-old man presented with Cushing's syndrome due to bilateral adrenal hyperplasia with multiple nodules. Computed tomography scan results were atypical demonstrating an enlargement of the bilateral adrenal glands harboring multiple small nodules, but the lesion was clinically diagnosed to be primary pigmented nodular adrenocortical disease (PPNAD) based on both endocrinological test results and his family history. We performed bilateral adrenalectomy and confirmed the diagnosis histologically. An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p.E17X (c.49G>T). This confirmed the diagnosis of PPNAD which is associated with Carney Complex.
authors: Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan.
authors: Ryohei
authors: R
authors: Mineo
authors: Sachiko
authors: S
authors: Tamba
authors: Yuya
authors: Y
authors: Yamada
authors: Tomonori
authors: T
authors: Okita
authors: Yusuke
authors: Y
authors: Kawachi
authors: Reiko
authors: R
authors: Mori
authors: Mitsuaki
authors: M
authors: Kyo
authors: Kenji
authors: K
authors: Saisho
authors: Yohei
authors: Y
authors: Kuroda
authors: Koji
authors: K
authors: Yamamoto
authors: Akiko
authors: A
authors: Furuya
authors: Tokuo
authors: T
authors: Mukai
authors: Takashi
authors: T
authors: Maekawa
authors: Yasuhiro
authors: Y
authors: Nakamura
authors: Hironobu
authors: H
authors: Sasano
authors: Yuji
authors: Y
authors: Matsuzawa
mesh_terms: D000303:Adrenal Cortex Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D000311:Adrenal Glands / Q000473:pathology; D000315:Adrenalectomy; D000328:Adult; D003480:Cushing Syndrome / Q000209:etiology*; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D014057:Tomography, X-Ray Computed
chemical_list: D017868:Cyclic AMP-Dependent Protein Kinases