ESPE Abstracts

Background: Silver-Russell Syndrome (SRS) is a clinically heterogenous syndrome, characterized by intrauterine and postnatal growth retardation, distinct facial features, relative macrocefaly at birth and body asymmetry later in life, in combination with other malformations. Feeding difficulties, hypoglycemia and speech delay may appear. SRS diagnosis is clinical, according to the Netchine–Harbison clinical scoring system. Only 60% of cases are genetical...

Background: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal or auditory defects and seizures. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital pituitary defect, characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neuro...

Background: Nowadays, childhood obesity is one of the biggest health emergencies in the developed countries. Obesity leads to multiple metabolic disorders. Thyroid function has been often described as altered in obese children. However, it is not clear whether the thyroid dysfunction is the cause or the consequence of the fat excess.Objective and hypotheses: The aim of the current study was to examine the thyroid function and to assess the frequency of t...