Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome.

Noonan syndrome is a heterogeneous congenital disorder. The main features are typical facial features, short stature and cardiac defects. The diagnosis is clinical: in 80% of patients with Noonan syndrome a genetic defect can be shown.

Gonadal Hormone Substitution in People with Prader-Labhart-Willi Syndrome: An International Prader-Willi Syndrome Organisation Survey.

Background: Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction, and specific dysmorphisms. Hypothalamic dysfunction causes growth hormone deficiency, dysregulation of energy balance, and hypogonadism. Although hypogonadism is prevalent in PWS, there are no clear guidelines for diagnosis and treatment.

Prader-Willi Syndrome and Hypogonadism: A Review Article.

Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms. Hypothalamic dysfunction causes dysregulation of energy balance and endocrine deficiencies, including hypogonadism. Although hypogonadism is prevalent in males and females with PWS, knowledge about this condition is limited.

Contemporary height, weight and body mass index references for children aged 0 to adulthood in Switzerland compared to the Prader reference, WHO and neighbouring countries.

In 2011, WHO growth curves replaced those of Prader and colleagues (First Zurich longitudinal study) in Switzerland. To present contemporary height-, weight- and body mass index (BMI)-for-age references reflecting children's growth in modern Switzerland. Cross-sectional sample comprising 30,141 boys and girls aged 0-20 years measured between 2012 and 2019.