Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.

ABSTRACT:

Background

RASopathies are developmental disorders caused by dysregulation of the RAS-MAPK signalling pathway, which contributes to the modulation of multiple extracellular signals, including hormones and growth factors regulating energetic metabolism, including lipid synthesis, storage, and degradation.

Subjects and methods

We evaluated the body composition and lipid profiles of a single-centre cohort of 93 patients with a molecularly confirmed diagnosis of RASopathy by assessing height, BMI, and total cholesterol, HDL, triglycerides, apolipoprotein, fasting glucose, and insulin levels, in the context of a cross sectional and longitudinal study. We specifically investigated and compared anthropometric and haematochemistry data between the Noonan syndrome (NS) and Mazzanti s

SUBMITTER: Tamburrino F 

PROVIDER: S-EPMC10425765 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature