Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations
EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.176, no.6, pp.657-667, 2017 (SCI-Expanded, Scopus)
- 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 (SCI-EXPANDED), Scopus
- Page Numbers: pp.657-667
- Hacettepe University Affiliated: Yes
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).