Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency


ÖZEN S. , OZCAN N., Ucar S. K. , Goksen D. , DARCAN Ş.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.28, pp.691-694, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0324
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.691-694

Abstract

Background/aims: Loss of function mutations of proopiomelanocortin (POMC) gene results in adrenal insufficiency, early-onset hyperphagic obesity, and red hair. However, neuromotor retardation with POMC deficiency has not been reported before.