Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?

ABSTRACT:

Introduction

The growth hormone deficiency (GHD) diagnosis is controversial especially due to low specificity of growth hormone (GH) stimulation tests. It is therefore believed that children diagnosed with GHD form a heterogeneous group with growth disorder frequently independent on GH function. No study evaluating the complex etiology of growth failure in children with diagnosed GHD has been performed thus far.

Aims

To discover genetic etiology of short stature in children with diagnosed GHD from families with short stature.

Methods

Fifty-two children diagnosed with primary GHD and vertically transmitted short stature (height SDS in the child and his/her shorter parent <-2 SD) were included to our study. The GHD diagnosis was based on growth data suggestive of G

SUBMITTER:  

PROVIDER: S-EPMC9880029 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature