<italic>IGF1</italic> Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

ABSTRACT:

Introduction

The clinical features of bi-allelic IGF1 defects are well established, i.e., severe growth failure and microcephaly, delayed psychomotor development, and sensorineural deafness. However, information on clinical and endocrine consequences of heterozygous IGF1 variants and treatment options is scarce. We aimed at extending the knowledge base of the clinical presentation and growth response to recombinant human growth hormone (rhGH) of patients carrying such variants.

Methods

Retrospective case series of patients with pathogenic heterozygous IGF1 variants.

Results

Nine patients from six families were included, harbouring five whole or partial gene deletions and one frameshift variant resulting in a premature stop codon (three de novo, one unknown inheritance

SUBMITTER: Joustra SD 

PROVIDER: S-EPMC12668710 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature