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 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 176 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1530/eje-16-0999
  • Journal Name: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • 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).