ESPE Abstracts

Background: The annual worldwide incidence of childhood adrenocortical tumors (ACT) ranges from 0.3 to 0.38/million children below the age of 15 years. Only 1–2% of them are feminizing ACT occurring in prepubertal boys and presenting with gynecomastia that normalizes after tumor removal.Case report: We present a case of a feminizing ACT. The boy was referred for bilateral gynecomastia, appeared 6 months before, at the chronological age (CA) of 7.5 y...

Background: Klippel–Feil syndrome (KFS) is characterized by congenital fusion of cervical vertebrae and has a prevalence of 1:50 000. The phenotypic expression is variable, sometimes presenting with extraskeletal symptoms.Case report: A girl was referred at the cronological age (CA) of 10.3 years with a suspected diagnosis of Turner syndrome, due to the presence of webbed neck and progressive deceleration of growth velocity. The girl, born in Russia...

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (&#87...

Background: Pubertal timing is influenced by a complex interaction among genetic, nutritional, environmental and socioeconomic factors. Over the past 30 years a trend in pubertal timing anticipation has been demonstrated. Environmental factors involved in this phenomenon are mainly represented by endocrine disruptors compounds (EDCs), such as pesticides, industrial compounds and persistent organic pollutants, estrogens and phytoestrogens.Objective and hy...