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

Isik, Emregul; Haliloglu, Belma; van Doorn, Jaap; DEMİRBİLEK, HÜSEYİN; Scheltinga, Sitha; Losekoot, Monique; Wit, Jan

doi:10.1530/eje-16-0999

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., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.176, sa.6, ss.657-667, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 176 Sayı: 6
Basım Tarihi: 2017
Doi Numarası: 10.1530/eje-16-0999
Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.657-667
Hacettepe Üniversitesi Adresli: Evet

Özet

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).