A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Durmaz A. , Aykut A. , Atik T. , Ozen S. , Ayyildiz E., Ata A. , ...More

Journal of clinical research in pediatric endocrinology, vol.13, pp.52-60, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13
  • Publication Date: 2021
  • Doi Number: 10.4274/jcrpe.galenos.2020.2020.0101
  • Title of Journal : Journal of clinical research in pediatric endocrinology
  • Page Numbers: pp.52-60
  • Keywords: Obesity, hypogonadotropic hypogonadism, carboxypeptidase, carboxypeptidase E, ENDOCRINE, ROLES, MICE


Objective: Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. CPE knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia, low bone mineral density and neurodevelopmental disorders. Only one patient is described with morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotropic hypogonadism, which was associated with a homozygous frameshift deletion in CPE.