Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.
Endocrinol Diabetes Nutr (Engl Ed)
; 71(3): 119-123, 2024 Mar.
Article
en En
| MEDLINE
| ID: mdl-38555108
ABSTRACT
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 ANDCONCLUSIONS:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Hiperplasia Suprarrenal Congénita
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Síndrome de Cushing
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Neoplasias
Límite:
Humans
Idioma:
En
Revista:
Endocrinol Diabetes Nutr (Engl Ed)
Año:
2024
Tipo del documento:
Article
País de afiliación:
España