Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency.

ABSTRACT:

Introduction

Growth hormone (GH) secretion and release is a complex and highly regulated process. Any alteration disturbing synthesis, secretion or biological action of GH, results into growth hormone deficiency (GHD). GHD is of two types-isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD), of which IGHDis more common. The genes implicated in its etiology are growth hormone 1(GH1) and receptor of growth hormone-releasing hormone (GHRHR). Mutations within the coding region and/or either entire or partial deletions of the GH1gene lead to IGHD. In addition, GH1 possesses upstream regulatory elements and a promoter with binding sites for various transcription factors, which control its expression.

Aim

The study was planned with an aim to id

SUBMITTER: Birla S 

PROVIDER: S-EPMC3603058 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature