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. Inheritance is predominantly autosomal dominant and seldom autosomal recessive. In 2001, PTPN11 was the first gene connected to
Noonan syndrome, and until now, at least 20 other genes have been discovered. All genes code for
proteins involved in the RAS-MAP-
kinase pathway, and therefore,
Noonan syndrome is one of the known RASopathies. Other RASopathies include
neurofibromatosis and CFC syndrome. Short stature is one of the defining features of
Noonan syndrome. The cause is not fully understood but is multifactorial. Other endocrinological features are confined to
delayed puberty and
hypogonadism in boys and males. To increase adult height, children with
Noonan syndrome have been treated with
human growth hormone since the 1990s. This seems to be beneficial in most of the children treated. In this narrative review, we describe the current knowledge on growth, endocrinological features and
growth hormone treatment in patients with
Noonan syndrome.