ESPE Abstracts

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

Background: HbA1c was recommended as diagnostic tool in adults at risk for diabetes. In obese patients, HbA1c shows an association even with other features of metabolic syndrome. However, its value in pediatric population for this purpose has yet to be established.Material and methods: We determined HbA1c (IFCC method) in 307 overweight/obese children and adolescents (age 11.4±3.2; range 3.0–17.9 and BMI 27.9±4.7; range 20.4–47.6) val...

Background: The prevalence of dysglycaemia is high among overweight children and adolescents. Current screening criteria with fasting laboratory values have low sensitivity to detect IGT. Fasting triglycerides (TG) >1.17 mmol/l has been proposed as a criterion for screening obese children and adolescents at risk for IGT.Aims and objectives: We aimed to compare the performance of different screening criteria for detecting IGT in obese and overweight c...

Background: It has been previously proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Instead, amongst these, solely children with an identifiable monogenic cause of GHD or an identifiable functional or anatomical anomaly in the hypothalamic-pituitary axis should be considered GHD. The remaining patients should be defined as affected by “sho...

Background: ‘Thelarche variant’ (TV), also known as ‘unsustained/slowly progressive puberty’ or ‘exaggerated thelarche’, is a term used to describe girls with premature thelarche and intermediate features between isolated premature thelarche (PT) and central precocious puberty (CPP). Despite being characterized by a FSH predominant response and by a peak LH response <5 IU/L to GnRH test, a univocal definition is lacking.<...

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labeled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which...

Background: G, male, was born at 39 GW by emergency CS from non-consanguineous parents. Prenatal US showed growth at lower limits of normal from 22 GW, short limbs and polyhydramnios. Amniocentesis karyotype was 46,XY. At birth weight and length were <3rd percentile, head circumference was between 10 and 25th percentile. At physical examination: short limbs, short neck, cryptorchidism, and microphallus. Early the baby presented mild respiratory distress and a severe episod...