Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome.

ABSTRACT:

Purpose

To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations.

Methods

Twenty-three patients with prepubertal NS treated at Pusan National University Children's Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were positive for mutations of the PTPN11, RAF1, and SOS1 genes. The five genes undetected (FGU) group was negative for PTPN11, RAF1, SOS1, KRAS, and BRAF gene mutations. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy.

Results

The mean chronological age at the start of GH treatment was 5.85

SUBMITTER: Jo KJ 

PROVIDER: S-EPMC6642922 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature