A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1.
Neonatology
; 100(3): 277-81, 2011.
Article
em En
| MEDLINE
| ID: mdl-21701219
ABSTRACT
Familial glucocorticoid deficiency (FGD) or hereditary unresponsiveness to adrenocorticotropin (ACTH) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency associated with normal mineralocorticoid secretion. Mutations in genes encoding either ACTH receptor or melanocortin 2 receptor accessory protein are responsible for the disease in about 50% of cases, named FGD type 1 and type 2, respectively. Patients may present with hyperpigmentation, recurrent infections, failure to thrive, hypoglycemic seizures, and coma in infancy or early childhood. Here we report the case of a 17-day-old newborn diagnosed with FGD type 1 who presented with hyperbilirubinemia and hyperpigmentation, a sign which was erroneously assumed to be due to prolonged phototherapy by the referring physician. Hormone analysis showed low cortisol and high ACTH levels with normal serum electrolytes and renin-aldosterone axis. Genetic analysis revealed a novel homozygous melanocortin 2 receptor mutation p.Leu225Arg in the patient. The healthy parents were heterozygous for the mutation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Adrenal
/
Erros Inatos do Metabolismo de Esteroides
/
Receptor Tipo 2 de Melanocortina
/
Glucocorticoides
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Neonatology
Assunto da revista:
PERINATOLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Turquia