Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome.
Three children of two Taiwanese families were diagnosed with Laron syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 microg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.
Yang
Chen
C
Division of Genetics, Department of Pediatrics, Taipei Medical University Hospital, Taiwan, ROC.
Chen
Julia Yi-Ru
JY
Lai
Chien-Cherng
CC
Lin
Hsiu-Chen
HC
Yeh
Geng-Chang
GC
Hsu
Hsun-Hui
HH
D001835:Body Weight / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000097:blood / Q000235:genetics; D006128:Growth / Q000502:physiology; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000172:deficiency* / Q000235:genetics*; D008055:Lipids / Q000097:blood; D007986:Luteinizing Hormone; D008297:Male; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D011986:Receptors, Somatotropin / Q000235:genetics; D013577:Syndrome; D013624:Taiwan; D013973:Thyrotropin-Releasing Hormone
D018972:Insulin-Like Growth Factor Binding Protein 3; D008055:Lipids; D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; D007987:Gonadotropin-Releasing Hormone; D013973:Thyrotropin-Releasing Hormone; D007334:Insulin-Like Growth Factor I; D007986:Luteinizing Hormone