Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age and GH peak concentration of <5.0 ng/mL in two different stimulation tests with no abnormal magnetic resonance imaging of pituitary. The boy also had feeding difficulties and behavior problems. Further test of Wechsler Intelligence Scales showed mild intellectual disability. Without other dysfunction, we suggested his family to perform trios whole exome sequencing (WES) to identify genetic cause and the results revealed a novel mutation of PPM1D(c.1434C>A). PPM1D was reported in two meta-analysis as a new gene leading to intellectual disability (ID). And it was described as a cause for ID in 14 patients in 2017, apart from ID, the phenotypes included high pain threshold, behavioral problems, periods of fever and vomiting, short stature and so on. Another case report also presented an individual with mutation of PPM1D in 2018 who also had short stature but no gastrointestinal difficulties or fever. Assay of GH was not reported in these papers, that GH assay might be needed more attention.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology