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

The risk factors for growth hormone deficiency is due to the mutations involving the POU1F1 gene, GH1 gene, IGF-I gene. GH receptor signal transduction, syndrome of bioinactive GH and growth hormone insensitivity.

Risk Factors

Genetics

Growth hormone insensitivity

• Growth hormone insensitivity is an absence of the effects of growth hormone despite a normal production of GH.<ref>[13]<ref>
• It is caused by mutations in the growth hormone receptor gene which affects the GH-binding of the receptor.
• Its severity correlates to IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.

POU1F1 gene mutations

• It is the most common known genetic cause of the combined pituitary hormone deficiency.<ref>[4]<ref>
• It is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone-releasing hormone (GHRH) receptor.<ref>[5]<ref>
• PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia.<ref>[6]<ref>

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.<ref>[7]<ref>

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.<ref>[8]<ref>

IGF-I gene mutations

• Mutations in the gene encoding IGF-I cause a unique syndrome of GHD.<ref>[9]<ref><ref>[11]<ref>
• 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.<ref>[10]<ref>