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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

References

    1. Thomas M, Massa G, Craen M, de Zegher F, Bourguignon JP, Heinrichs C, De Schepper J, Du Caju M, Thiry-Counson G, Maes M. Prevalence and demographic features of childhood growth hormone deficiency in Belgium during the period 1986-2001. Eur J Endocrinol. 2004;151:67–72. - PubMed
    1. Maghnie M, Lindberg A, Koltowska-Häggström M, Ranke MB. Magnetic resonance imaging of CNS in 15,043 children with GH deficiency in KIGS (Pfizer International Growth Database) Eur J Endocrinol. 2013;168:211–217. - PubMed
    1. Cogan JD, Phillips JA 3 rd. GH1 gene deletions and IGHD type 1A. Pediatr Endocrinol Rev. 2006;3(Suppl 3):480–488. - PubMed
    1. Laron Z, Kelijman M, Pertzelan A, Keret R, Shoffner JM, Parks JS. Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity? Isr J Med Sci. 1985;21:999–1006. - PubMed
    1. Baumann G. Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone. Am J Pharmacogenomics. 2002;2:93–111. - PubMed

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