Background: Currently, the diagnosis of GH deficiency (GHD) in infants and young children is based on the assessment of GH serum levels either during hypoglycaemia or after pharmacological stimulation tests. However, GH cut-off values have not been standardized and provocative tests may be unsafe in this age range.
Objective and hypotheses: Brain MRI may replace GH measurements in diagnosing GHD in infancy and young childhood.
Method: 68 children diagnosed with GHD before 4 years of age were retrospectively studied to evaluate the prevalence of hypotalamicpituitary defects and analyze the associations of brain abnormalities with age and presence of isolated GHD (iGHD) vs multiple hormone pituitary deficiency (MPHD).
Results: The prevalence of MPHD was 45.6% and of iGHD 54.4%. In patients with iGHD, brain MRI showed abnormalities in 83.8% of cases: 18 isolated pituitary hypoplasia and 13 complex defects (ectopic posterior pituitary with or without pituitary hypoplasia, pituitary stalk agenesis, or midline defects). In patients with MPHD, MRI showed complex brain alterations in 100% of cases. The cohort was subdivided into 3 groups, according to the age at diagnosis: <12 (n=17), 1324 (n=16), or 2548 (n=24) months. In the first 2 years of life MRI showed hypothalamicpituitary abnormalities in all cases, regardless the diagnosis. Complex defects were found in 94.1% of patient <12 months and in 75% of patient between 13 and 24 months.
Conclusion: Our data suggest that brain MRI may represent the first and, in most cases, only investigation to be performed for diagnosing GHD in infants and young children.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology