Noonan syndrome: rhGH treatment and PTPN11 mutation.

ABSTRACT:

Objective

To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment.

Methods

We collected clinical data from 8 children with Noonan syndrome diagnosed from November 2017 to June 2021. The diagnosis was clarified by exome second-generation sequencing and parental PCR-NGS validation and interpretation of the preceding evidence, and growth hormone therapy was administered. Of the cases, four males and four females were seen for slow height growth and the median age at diagnosis was 8 years 7 months (1 year 7 months to 12 years 6 months).

Results

Here, 7 children were treated with rhGH. Compared to the pre-treatment period, the growth rate increased after rhGH treatmen

SUBMITTER: Wu X 

PROVIDER: S-EPMC10655517 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature