Introduction: Growth retardation is a frequent reason for consultation in endocrinology, it is often isolated but it can integrate into a syndromic context. Its management requires a rigorous diagnostic procedure conducted in a specialized environment. The aim of our work is to analyze the epidemiological, clinical and etiological profile of RSP occurring in a syndromic setting.
Materials and methods: This is a retrospective study of 68 cases among 192 patients consulting for growth retardation, conducted in the Endocrinology Diabetology Department of the Mohammed VI university hospital center of Oujda in Morocco. The diagnostic procedure consisted of first-intention exploration followed by a stimulation test of GH secretion.
Results: Mean chronological age at diagnosis was 12.21±6.49 years, sex ratio (W/M): 0.64. Birth weight was low in 25.4% of cases, neonatal suffering in 23.9%, parental consanguinity in 29.9%. The average admission size was 4±1.45 standard deviations. A dysmorphic syndrome was present in 85.1% of our patients. The etiological profile was dominated by stunting whose exploration has concluded that there is a GH-deficient integrated into a congenital malformation of the hypothalamic-pituitary axis in 26.9% (Pituitary Stalk Interruption with ectopic post-hypophysis in 55.5% of the cases, anterior pituitary atrophy in 44.4%, an empty sella turcica in 11.1% of cases), a constitutional bone disease in 10.4% (50% achondroplasia, 25% pycnodysostosis, 12.5% dyschondrostosis), Turner syndrome in 13.2%, Prader-willi syndrome in 5.9%, 3M syndrome in 4.4%, syndrome Noonan in 2 cases, DMC (Dyggve Melchiore-Clausen Dysplasia) in 2 brothers, Silver syndrome in 2 cases, Ellis VantCreveld syndrome in 1 case, Meier Gorlin syndrome in 1 case, Neurofibromatosis type 1 in 1 case, a statural delay with gonosomal anomaly in 3 cases (Trisomy 9p, partial Trisomie 8, chromosome 15 anomaly, a Robinow syndrome in 1 case, a suspicion of waardenburg syndrome, a suspicion in Gitelman syndrome in 1 case, and growth delays whose genetic diagnosis is not yet labeled in 14.7%.
Conclusion: The causes of growth retardation in a syndromic setting are multiple. An adapted diagnostic procedure helps to guide the diagnosis. Their management requires multidisciplinary expertise conducted in a specialized environment. Treatment with recombinant GH is initiated according to the indication.
18 - 21 May 2019
European Society of Endocrinology