Growth hormone deficiency risk factors
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Risk Factors
Genetics
POU1F1 gene mutations
- It is the most common known genetic cause of the combined pituitary hormone deficiency.[4]
- It is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone-releasing hormone (GHRH) receptor.[5]
- PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia.[6]
GH1 gene mutations
- It is GH1 is the gene encoding GH, located on chromosome 17.
- Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.
Syndrome of bioinactive GH
- Bioinactive GH has the main symptoms and signs of isolated GHD with normal basal GH levels and low insulin-like growth factor I concentrations.[7]
GH receptor signal transduction
- It is essential for normal signaling of the GH receptor. Mutations in the gene encoding signal transducer decrease the response of receptors to GH.[8]
IGF-I gene mutations
- Mutations in the gene encoding IGF-I cause a unique syndrome of GHD.[9]
- Patients with IGF-I gene mutations have prenatal growth failure, microcephaly, significant neurocognitive deficits, and sensorineural hearing loss.
Defective stabilization of circulating IGF-I
- Acid-labile subunit is important for the stabilization of the IGF-I.
- Mutations in the gene coding for it causes less stable and subsequently less effect.[10]
IGF-I receptor mutations
- Mutations in the gene encoding the receptor for the IGF-I result in partial loss of function of the IGF-I receptor.[11]