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

作者：Galli Tsinopoulou Assimina^*; Kotanidou Eleni P; Kleisarchaki Aggeliki N; Kauli Rivka; Laron Zvi

来源：Journal of Clinical Research in Pediatric Endocrinology, 2018, 10(3): 284-288.

DOI：10.4274/jcrpe.5188

• Congenital isolated growth hormone deficiency
• growth hormone releasing hormone receptor
• failure to thrive
• short stature

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.

• 出版日期2018-9