Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report.

Abdulaziz AlsaediNaglaa M KamalAyman BakkarEnad AlthobaitiMuhammad NaeemMohamed Kamal

Published in: Clinical medicine insights. Case reports (2022)

Patients presenting with infantile cholestasis associated with documented hypoglycemia should alert pediatricians about the possibility of familial glucocorticoid deficiency and prompt investigation of adrenal function should be considered. Cortisol replacement therapy leads to the resolution of cholestasis.

Keyphrases

replacement therapy
drug induced
smoking cessation
type diabetes
early onset
single molecule
case report
glycemic control