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.

Figure 2 Changes in height standard deviation scores after 6 months and 1 year of recombinant growth hormone therapy in the three groups. ¹Height SDS are calculated from normative data from Indian Academy of Pediatrics 2015 growth charts. GH: Growth hormone; CPHD: Combined pituitary hormone deficiency; SDS: Standard deviation scores; NS: Noonan syndrome.