ESPE Abstracts

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...

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldostero...

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...