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Case Reports
. 2018 Jul 31;10(3):284-288.
doi: 10.4274/jcrpe.5188. Epub 2018 Feb 28.

A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

Assimina Galli-Tsinopoulou  1 , Eleni P. Kotanidou  1 , Aggeliki N. Kleisarchaki  1 , Rivka Kauli  2 , Zvi Laron  2
Affiliations
Case Reports

A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

Assimina Galli-Tsinopoulou et al. J Clin Res Pediatr Endocrinol. .

Abstract

Congenital isolated growth hormone deficiency (IGHD) type 1b is an autosomal recessive genetic condition caused by mutations of growth hormone (GH)-1 or the growth hormone releasing hormone receptor (GHRH-R) genes. Affected subjects present with symptoms of growth hormone deficiency (GHD) with low but detectable levels of growth hormone (GH), short stature and responsiveness to GH therapy. We describe a 13-month old girl with severe growth failure who showed a low GH response to two GH provocation tests and a modest increase of insulin-like growth factor-1 (IGF-1) to an IGF-1 generation test. Whole exome sequencing revealed a novel homozygous variant of the GHRH-R gene (c.97C>T), leading to a premature stop codon. Administration of recombinant human GH improved linear growth. This is the first report of a c.97C>T mutation of the GHRH-R gene.

Keywords: Congenital isolated growth hormone deficiency; growth hormone releasing hormone receptor; failure to thrive; short stature.

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Figures

Figure 1
Figure 1. Growth chart for weight-for-age, height-for-age and head circumference-for-age (Anthro World Health Organization software) along with a clinical photograph of the patient at 15 months of age showing typical facial features of a patient with growth hormone deficiency WHO: World Health Organization
See this image and copyright information in PMC

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