Endocrine Abstracts

Keywords: short stature, Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome, genetic syndromes

Introduction: Short stature is one of the major components of dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects.

Objective: To study etiological, genetic and diagnosis aspects of children with dysmorphic short stature.

Methods: Retrospective study including 60 children and adolescents with syndromic disorders with short stature admitted in the Department of Endocrinology diabetology and nutrition. The related anthropometrics and laboratory examinations were assessed in all participants.

Results and discussion: We report 60 children and adolescents with short stature aged 14±3.3 years, including 34 boys and 26 girls, were analysed in this study. The mean weight standard deviation score (SDS) and height SDS were −2.67±1.28 and −4.06±1.51 respectively. The majority of the children (56.9%) were prepubescent. The mean difference in bone age from chronological age was 25 months ±9. A propranolol–glucagon test was evaluated in 48.3% of patients. The causes of syndromic short stature in our study are represented mostly by: malformation of the pituitary gland in 26.7% and Turner syndrome in 11.7%, followed by MOC (8.3%), prader wili syndrome (6.7%), Noonan’s syndrome in 3.3%, 3M syndrome in 8.3%, waardenburg syndrome in 3.3%, russell-silver syndrome in 3.4%, DMC in 3.3%., and lastly 3A syndrom in 1.7%, Meier-Gorlin syndrome in 1.7%, as well as Eliis van Creveld syndrome. The genetic evaluation is still ongoing in 19.9% of the cases.

Conclusions: Genetic disorders are among major causes of short stature in children. Genetic testing is mandatory, in dysmorphic short stature. Patients should be referred to tertiary care centers for an individualized management.