Introduction: GH deficiency (GHD) represents less than 20% of short stature in children, the clinical, biological and radiological characteristics differ from one population to another.
Methods: Our retrospective study describe 59 children (37 boys and 22 girls) with confirmed GHD. The average age of discovery was 95 months. About 20.3% of these children were born from a consanguineous marriage. Family history of anterior pituitary insufficiency was present in 8.5% of cases and 22% of these children had a personal history of general disease of which 1.7% (3 patients) had Fanconis disease associated with GH deficiency. The initial reason for consultation was mostly a growth delay (78%), other reasons such as pubertal delay, systematic hormonal exploration and the association of staturoponderal delay with pubertal delay were less frequent. A dysmorphic syndrome was present only in 2 patients and abnormalities of the urogenital system in boys were not frequent (a micropenis was found in 6.8% of cases, testicular ectopy in 3.4% of cases and cryptorchidism in 1.7% of cases). Celiac disease was eliminated in 69.5% of patients and was not done in the rest of patients. Karyotype was not performed in most patients (74.6%) and was normal in 8.5% of cases. The mean bone age was 68.38 months. Regarding the positive diagnosis of GH deficiency, the average IGF1 in our patients was 92 ng/ml. The stimulation tests used were the catapressan test which revealed a partial deficit in 20.3% of cases, a total deficit in 59.3% of cases, it was normal in 3.4% of cases and the insulin hypoglycemia test which showed a partial deficit in 13.6% of patients, a total deficit in 64.4% of patients. The avlocardyl/glucagon test was rarely performed. Regarding imaging, the first radiological exam requested was hypothalamic-pituitary MRI which revealed an hypoplastic pituitary gland in 15.3%, an isolated posthypophysis ectopic in 3.6% of cases, a stem section syndrome in 8.5% of cases and it was normal in 44.1% of patients. Somatotropic deficit was total and isolated in 45.3% of cases, partial and isolated in 10.9% of cases, combined and total in 39.1% of patients and partial and total in 3.1% of patients.
Conclusion: Our results are consistent with the results of the literature regarding the male predominance of GHD, the average age of discovery and the delay of the diagnosis and the heterogeneity of the etiologies.
18 - 21 May 2019
European Society of Endocrinology