Introduction: We would like to highlight an interesting case of 12 year-old boy with GH deficiency and its diagnostic dilemma.
Case report: A 12 year-old boy was referred for growth failure. Over the last 3 years, his height and weight fell to the 2nd centile from the 25th and 9th centiles respectively. His poor growth was initially attributed to his Attention Deficit Hyperactive Disorder medication which was optimised with no effect. School reported his poor hygiene and concerning behaviour of hyperphagia and hoarding food. His family relationship was difficult and he was previously on the child protection (CP) register for neglect.
Clinically, he was thin (Body Mass Index [BMI]: 15.6 kg/m2; BMI Standard Deviation Score [SDS]: −2.4) and pre-pubertal (Pubertal staging: PH1, G2). Serum assays showed no evidence of chronic illnesses, coeliac or hypothyroidism. He had low testosterone level (<0.35 nmol/l) and his skeletal bone age was appropriate for his chronological age. Insulin tolerance test confirmed he was GH deficient (Peak GH level: 4.5 ug/l; Peak Cortisol level: 501 nmol/l). His MRI pituitary was normal. These tests confirmed he was GH deficient without primary pituitary gland abnormality. However, his behavioural and social concerns indicated physical and emotional neglect.
Conclusion: This created a diagnostic dilemma as there were findings in support of both a true GH deficiency as well as possible Psychosocial Short Stature (PSS). The clinical priority was to ensure the patients safety therefore he was placed into residential care. GH treatment was never commenced. The patients height and weight improved whilst in care (height velocity: 16.9 cm/year) but fell when he returned home thereby indicating PSS. PSS is characterized by growth failure in association with emotional deprivation. These children have the characteristic features of reversible GH deficiency but do not respond to GH treatment. Instead, a change in social environment brings about catch-up growth.
GH profiling test was considered but was not necessary given the evidence supports the diagnosis of PSS. In this case, removing patient was imperative for his circumstance, however in less extreme social concerns, there could be a role of GH profiling to facilitate diagnosis.