ESPE Abstracts

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...

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy, skeletal anomalies and webbing of the neck. Molecular screening has shown that the majority of individuals with NS have a mutation in the PTPN11 gene. Noonan syndrome children may show an impaired GH/IGF axis. Moreover, recombinant human GH (rhGH) has been sh...

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...