Essakow Jenna Lee, Lauterpacht Aharon, Lilos Pearl, Kauli Rivka, Laron Zvi
Endocrinology and Diabetes Research Unit, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Israel, present address: Children's Hospital Los Angeles, USA, E-mail:
Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center, 14 Kaplan Street, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Pediatr Endocrinol Rev. 2016 Sep;14(1):19-26. doi: 10.17458/PER.2016.ELLKL.GeneticMutations.
In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive.
To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis.
Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified.
Mean (±SD) birth length (BL), available for 26, (10 M, 16F) neonates with a gestational age of 34-41weeks, was 44.2±4cm; one was premature (30cm at 31 weeks). There was a significant correlation between birth length and gestational age (GA) r=0.71 (p>.001). Mean birth weight (BW) of 41 neonates (18M, 23F) was 2388±743gr. Two premature neonates weighed 650gr and 950gr respectively. The BW correlated significantly with gestational age, (males: r=0.68; p=0.007, females: r=0.49; p=0.024). The BMI of 25 neonates ranged from 6 to 13. In 22 records marked microcephaly was ascertained or stated. Nine of 16 mothers were short (133 -148cm), m±SD = 150.5±7.3cm.
