Growth Hormone Deficiency in 2 Siblings Associated with Combined GH1 Gene Polymorphisms

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

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