Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations


Isik E., Haliloglu B., van Doorn J., DEMİRBİLEK H. , Scheltinga S. A. , Losekoot M., ...More

EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.176, no.6, pp.657-667, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 176 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1530/eje-16-0999
  • Title of Journal : EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Page Numbers: pp.657-667

Abstract

Objective: Acid-labile subunit (ALS) deficiency (ACLSD), caused by homozygous or compound heterozygous IGFALS mutations, is associated with moderate short stature, delayed puberty, low serum IGF-I and ALS and extremely low serum IGFBP-3. Its effect on birth weight, head circumference, bone mineral density (BMD), serum IGF-II and IGFBP-2 is uncertain, as well as the phenotype of heterozygous carriers of IGFALS mutations (partial ACLSD).