Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy

Figure 1 Characteristic features of Noonan syndrome. A: Low-set ears with thick helices, short neck with excess nuchal skin, and low posterior hairline; B: Pectus excavatum; C: Broad forehead, hypertelorism, epicanthic folds, downward slanting palpebral fissures, prominent eyes, mild ptosis, micrognathia, and prominent nasolabial fold. The patient also had pulmonary stenosis on echocardiography and horse-shoe kidneys on ultrasound and combined pituitary hormone deficiency. Whole exome sequencing revealed a pathogenic mutation in the POU1F1 gene.