Case Report

Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report

10.4274/jcrpe.0305

  • Ahmad Kautsar
  • Jan M. Wit
  • Aman Pulungan

J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 30678423

Isolated growth hormone deficiency (IGHD) type II is a rare autosomal dominant disorder characterized by severe short stature with low growth hormone level. Timely diagnosis is important for optimal results of recombinant human GH (rhGH) treatment and detection of additional pituitary deficiencies in affected relatives. A male child presented at the age of one year with severe proportionate short stature (-4.9 SDS) with normal Body Mass Index (-1.1 SDS). Physical examination revealed frontal bossing, midfacial hypoplasia, normal external genitalia with no dysmorphic features. His father’s and mother’s height were -6.1 and -1.9 SDS. Serum IGF-1 and IGFBP-3 were undetectable and the peak GH level in a clonidine stimulation test was extremely low (0.18 ng/mL). Brain magnetic resonance (MR) showed anterior pituitary hypoplasia. Genetic analysis identified a novel heterozygous mutation (c.291+2T>G) expected to lead to splicing out exon 3 of GH1. rhGH from 2.4 years of age led to proper catch-up. In conclusions, we identified a novel GH1 gene mutation in an infant with classical IGHD type II presentation.

Keywords: Growth hormone, GH1, short stature, isolated growth hormone deficiency