ESPE Abstracts

Background: Distal monosomy 10q is a rare chromosomal anomaly characterized by unusually slow growth before and after birth, mild to severe intellectual disability and distinctive craniofacial features (hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears). Some other anomalies have been described in various systems. The behavioral profile was characterized by marked inattention, hyperactivity and impulsivity. In recent years, subt...

Background: Nutrition and growth in the postnatal phase seems to have an important role for the future risk of obesity, type 2 diabetes, and cardiovascular diseases. It has been suggested that circulating levels of adiponectin in the first 2 years of life are influenced by type of feeding in small for gestational age.Objective and hypotheses: Aim of our study was to evaluate if total and multimeric adiponectin levels in obese adequate for gestational age...

Background: Several studies have investigated the effects of GH replacement therapy (GHRT) on thyroid function in children with GH deficiency (GHD) leading to contrasting results. Indeed, GHRT has been reported to affect the peripheral metabolism of thyroid hormones, to alter TSH secretion by pituitary and to unmask secondary hypothyroidism.Objective and hypotheses: To evaluate long-term effects of GHRT on thyroid function in a large cohort of GHD childr...

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

Background: Adolescents affected by chronic diseases need a specific support and care, in a contest dedicated to them and not integrated with children. They often ask a specific attention to their asks, only partially secondary to their primary disease.Objective and hypotheses: The need of a support in communication of the diagnosis, in the adherence to a long-life or to a prolonged treatment and a long follow-up, with repeated blood samples, strumental ...

Background: Existing tests are not 100% accurate in differentiating between isolated hypogonadotropic hypogonadism (HH) and constitutional delay of puberty (CDP) in boys. Inhibin B is a glycoprotein produced by the Sertoli cells and is measurable even before puberty. Its level increases at the beginning of puberty under the influence of FSH.Objective and hypotheses: The levels of inhibin B (InhB) could differentiate between HH and CDP. We aimed to establ...

Background: At 14 years of age for boys and 13 years for girls, delayed puberty with low gonadotropic hormones can either be a chronopathologic feature (constitutional delay of puberty – CDP) or the subclinical unmasking of a future isolated hypogonadotropic hypogonadism (IHH). The two conditions are difficult to differentiate at these specific ages.Objective and hypotheses: We aimed to identify clinical and paraclinical features which correlate wit...

Background: Costello syndrome (CS) is a rare autosomal dominant genetic disease, first described in 1971, part of neuro-cardio-facio-cutaneous syndrome (with RAS pathway genes mutations of MAPKinaza-RASopathies), characterized by short stature, delayed mental development, joint hiperlaxity, papillomas, congenital heart defects and increased risk to develop benign or malignant solid tumors.Case: We present the case of a teenaged girl (15 years 7 months), ...

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: Epidemiologic studies have documented that sleep duration is associated with obesity risk children’s.Objectives: To investigate sleep duration of 4-year-old children (h/day) and to evaluate the association of sleep patterns with weight status at 4 years.Methods: 393 children from the INMA birth cohort of Asturias (Spain). We analysed sleep duration (h/day) during the night and afternoon nap, reported by their paren...