[A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease]. / Een meisje met het syndroom van Cushing door primaire gepigmenteerde nodulaire adrenocorticale ziekte.
Ned Tijdschr Geneeskd
; 150(43): 2390-3, 2006 Oct 28.
Article
em Nl
| MEDLINE
| ID: mdl-17100132
A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of primary pigmented nodular adrenocortical disease (PPNAD). The treatment for patients with PPNAD is bilateral adrenalectomy and hormone substitution. PPNAD may be part of the Carney complex, an autosomal dominant multiple neoplasia syndrome. Screening of family members is mandatory. Further investigation for mutations in the gene encoding the regulatory subunit 1A of the protein kinase A (PRKAR1A) may be helpful.
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Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Doenças do Córtex Suprarrenal
/
Síndrome de Cushing
/
Mutação
Limite:
Child
/
Female
/
Humans
Idioma:
Nl
Revista:
Ned Tijdschr Geneeskd
Ano de publicação:
2006
Tipo de documento:
Article