Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism

Abstract

The results of molecular genetic studies indicate the potential involvement of ghrelin in the pathogenesis of some dwarfism forms. However, in the case of isolated somatotropin insufficiency, mutations in the ghrelin receptor gene are a rare cause of the disease. The article describes a case of identification, based on new generation sequencing (NGS) using the AmpliSeq technology, of a functionally significant marker ― the c.837C>A substitution in the ghrelin receptor gene GHSR (OMIM: 615925) in the heterozygous state in two sisters with isolated growth hormone deficiency and the clinical picture of malabsorption syndrome. We have supposed that mutations in the GHSR gene may be an etiological factor of isolated somatotropin insufficiency in a combination with malabsorption syndrome and eating disorders. Mutations in the GHSR gene enable predicting the development of somatotropin insufficiency not associated with abnormality of other pituitary hormones.