Normal Growth despite Combined Pituitary Hormone Deficiency

Conclusion: The high IGF-II/IGFBP-3 molar ratio was not the cause of the sustained high growth velocity, due to the low affinity of IGF-II for IGF type 1 receptor. The key finding was theHESX1 mutation, as similar cases have been described before, suggesting a common mechanism for growth without GH. However, the variable penetrance of this variant in heterozygous relatives suggests that modifier genes or mechanisms involving combinations with mutations of other genes involved in intracellular signaling pathways might be responsible.Horm Res Paediatr

Source: Hormone Research in Paediatrics - April 25, 2019 Category: Endocrinology Source Type: research