Acromegaly and Growth Hormone Deficiency (GHD) are associated with skeletal fragility
and with an increased prevalence of Vertebral Fractures (VFs). In the most recent years, several
authors tried to investigate surrogate markers that may predict the risk of bone fragility in these
endocrine disorders. The aim of this review is to evaluate the role of GH receptor polymorphisms
in skeletal fragility in patients affected by GHD and acromegaly. In fact, until now, two different
isoforms of the GH Receptor (GHR) were described, that differ for the presence or the absence of
transcription of the exon 3 of the GHR gene. Both the isoforms produce a functioning receptor, but
the exon 3-deleted isoforms (d3-GHR) has a higher sensitivity to endogenous and recombinant GH
as compared to the full-length isoform (fl-GHR).
Keywords: Fracture, acromegaly, growth hormone, growth hormone deficiency, vertebral fractures, isoforms.
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