Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report

J Clin Res Pediatr Endocrinol. 2019 Nov 22;11(4):426-431. doi: 10.4274/jcrpe.galenos.2019.2018.0305. Epub 2019 Jan 25.


Isolated growth hormone (GH) deficiency (IGHD) type 2 is a rare autosomal dominant disorder characterized by severe short stature with low GH 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 standard deviation score (SDS)] and with a normal body mass index (-1.1 SDS). Physical examination revealed frontal bossing, midfacial hypoplasia, normal external genitalia and no dysmorphic features. Paternal and maternal heights were -6.1 and -1.9 SDS. Serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 were undetectable and the peak GH concentration by clonidine stimulation test was extremely low (0.18 ng/mL). Brain magnetic resonance imaging 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 age 2.4 years led to appropriate catch-up. In conclusion, we identified a novel GH1 gene mutation in an infant with classical IGHD type 2 presentation.

Keywords: Growth hormone; GH1; short stature; isolated growth hormone deficiency.

Publication types

  • Case Reports

MeSH terms

  • Age Factors
  • Body Height / drug effects
  • Body Height / genetics*
  • Child Development
  • Child, Preschool
  • Dwarfism, Pituitary / blood
  • Dwarfism, Pituitary / diagnosis
  • Dwarfism, Pituitary / drug therapy
  • Dwarfism, Pituitary / genetics*
  • Genetic Predisposition to Disease
  • Growth Disorders / blood
  • Growth Disorders / diagnosis
  • Growth Disorders / drug therapy
  • Growth Disorders / genetics*
  • Heredity
  • Hormone Replacement Therapy
  • Human Growth Hormone / administration & dosage
  • Human Growth Hormone / deficiency*
  • Human Growth Hormone / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Treatment Outcome


  • Human Growth Hormone

Supplementary concepts

  • Isolated Growth Hormone Deficiency, Type II