دورية أكاديمية
Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.
| العنوان: | Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms. |
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| المؤلفون: | Piñar-Gutiérrez A; UGC Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Mangas-Cruz MÁ; UGC Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, Spain., de Lara-Rodríguez I; UGC Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, Spain. Electronic address: Irenedelara93@gmail.com., Remón-Ruiz P; UGC Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Del Can-Sánchez D; UGC Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Tous Castillo M; UGC Endocrinología y Nutrición, Hospital Universitario Virgen Macarena, Sevilla, Spain., Pumar-López A; UGC Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, Spain. |
| المصدر: | Endocrinologia, diabetes y nutricion [Endocrinol Diabetes Nutr (Engl Ed)] 2024 Mar; Vol. 71 (3), pp. 119-123. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Country of Publication: Spain NLM ID: 101717565 Publication Model: Print Cited Medium: Internet ISSN: 2530-0180 (Electronic) Linking ISSN: 25300180 NLM ISO Abbreviation: Endocrinol Diabetes Nutr (Engl Ed) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Barcelona] : [Elsevier España], 2017- |
| مواضيع طبية MeSH: | Adrenal Hyperplasia, Congenital*/complications , Adrenal Hyperplasia, Congenital*/genetics , Cushing Syndrome*/genetics , Neoplasms*, Humans ; Germ-Line Mutation ; Hydrocortisone ; Hyperplasia ; Tumor Suppressor Proteins/genetics |
| مستخلص: | Introduction/objectives: Mutations in the ARMC5 (armadillo repeat containing 5, OMIM 615549) gene, a putative tumor suppressor gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (BMAH). Familial BMAH is thought to be caused by two mutations, one germline and the other somatic, as suggested by the 2-hit theory. The objective is to describe a new mutation and develop its clinical characteristics and implications. Methods, Results and Conclusions: We present an affected family with 11 members carrying a novel mutation of the ARMC5 gene (NM_001288767.1): c.2162T>C p. (Leu721Pro). Two of the carriers developed clinical Cushing's syndrome (CS), two mild autonomous cortisol secretion (MACS) and one presented with autonomous cortisol secretion (ACS). Four patients developed other tumors, three of whom died from this cause. It is not known whether these tumors could be related to the described mutation. (Copyright © 2024 SEEN and SED. Published by Elsevier España, S.L.U. All rights reserved.) |
| فهرسة مساهمة: | Keywords: ARMC5; Bilateral macronodular adrenal hyperplasia; Cushing's syndrome; Hiperplasia adrenal bilateral macronodular; Mutación; Mutation; Neoplasms; Síndrome de Cushing; Tumores |
| المشرفين على المادة: | WI4X0X7BPJ (Hydrocortisone) 0 (Tumor Suppressor Proteins) 0 (ARMC5 protein, human) |
| تواريخ الأحداث: | Date Created: 20240330 Date Completed: 20240401 Latest Revision: 20240401 |
| رمز التحديث: | 20240401 |
| DOI: | 10.1016/j.endien.2024.03.016 |
| PMID: | 38555108 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2530-0180 |
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| DOI: | 10.1016/j.endien.2024.03.016 |