Abstract
Objective:
This study was performed to clarify the pathophysiology of familial short stature
with moderate GH deficiency.
Patients:
The siblings showed moderate GH deficiency with short stature. Pedigree analysis revealed
an accumulation of the history of short stature in father’s relatives, although there
was no consanguinity.
Methods:
We performed sequencing analysis of GH1 and GHSR gene in the siblings.
Results:
We detected SNPs in the GH1 gene in the combination of the − 278G, − 57T, +1169T, and +2103C in one allele
from the father and the − 278T, − 57G, +1169 A, and +2103T in the other allele from
the mother in the siblings. In the previous report, the −278G and − 57T allele are
associated with low serum IGF-I levels in patients with isolated GH deficiency and
the haplotype of the − 278T, − 57G, +1169 A, and +2103T allele exhibited an impaired
GH secretion in vitro.
Conclusions:
It is suggested that these haplotypes were responsible at least in part for the GH
deficiency and short stature in these siblings.
Key words
hypopituitarism - GH deficiency - insufficiencies
