1. Short stature related to Growth Hormone Insensitivity (GHI) in childhood.
- Author
-
Mastromauro C, Giannini C, and Chiarelli F
- Subjects
- Humans, Growth Disorders genetics, Dwarfism, Human Growth Hormone genetics, Human Growth Hormone metabolism, Insulin-Like Growth Factor I deficiency
- Abstract
Linear growth during childhood is the result of the synergic contribution of different factors. The best growth determinant system during each period of life is represented by the growth hormone-insulin-like growth factor axis (GH-IGF), even if several other factors are involved in normal growth. Within the broad spectrum of growth disorders, an increased importance has been placed on growth hormone insensitivity (GHI). GHI was reported for the first time by Laron as a syndrome characterized by short stature due to GH receptor (GHR) mutation. To date, it is recognized that GHI represents a wide diagnostic category, including a broad spectrum of defects. The peculiar characteristic of GHI is the low IGF-1 levels associated with normal or elevated GH levels and the lack of IGF-1 response after GH administration. Recombinant IGF-1 preparations may be used in the treatment of these patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Mastromauro, Giannini and Chiarelli.)
- Published
- 2023
- Full Text
- View/download PDF