ESPE Abstracts

Background: Costello syndrome is a rare congenital disorder with characteristic findings involving multiple organ systems. The Costello Syndrome Family Network estimates that the birth prevalence in the United Kingdom is at least 1/500,000. So far, there has been only one affected individual reported in China.Objective and hypotheses: Diagnose the case of autosomal dominant Costello syndrome by direct squencing of HRAS gene. Analyze the correlation betwe...

Background: It has been shown that a proportion of relatives with multiple islet auto antibodies do not develop diabetes for many years, indicating that a more accurate marker of advanced insulitis is needed.Objective and Hypotheses: We evaluated whether the level of HbA1c can discriminate children at risk of T1D onset in a cohort of auto antibody positive relatives.Method: A total of 74 subjects <18 years of age who were parti...

Background: Congenital thyroid dysgenesis usually occurs sporadically and may even be discordant in monozygotic twins. However, when caused by inactivating mutations in the TSH receptor (TSHR) it can be inherited recessively, typically resulting in thyroid gland hypoplasia. We present a new familial case of thyroid dysgenesis with two siblings of consanguineous parents. The daughter was identified in neonatal screening with severely elevated TSH and thyroid agenesis on ultraso...

Background: Childhood obesity is often associated with insulin resistance (IR), which is a key risk factor for the development of comorbidities. The etiologic relation between insulin resistance and obesity is still not completely understood.Objective: In this study a multiplatform metabolomics approach was applied for the first time to elucidate the metabolic alterations in obese children with or without IR. Metabolomics is the revolutionary strategy of...

Background: The hallmark of congenital hyperinsulinism (CHI) is the demonstration of detectable plasma insulin during hypoglycaemia. Insulin can be undetectable in a significant proportion of patients with CHI. Plasma samples for insulin requires rapid and careful handling for reliable results. There is little published data on the value of C-peptide in the diagnosis of CHI.Objective and hypotheses: To assess the usefulness of C-peptide in the diagnosis ...

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

Background: Steroid 5α-reductase catalyzes the conversion of testosterone into the more active androgen, dihydrotestosterone (DHT). In 46, XY patients with recessive mutations in steroid 5α-reductase type 2 enzyme (SRD5A2) gene, the degree of ambiguity ranges from isolated hypospadias to severe undermasculinization. SRD5A2 gene is located on chromosome 2 (p23 region) and is comprised of five exons and four introns.Objective and hypotheses: Mult...

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...

Background: The ganglioneuroma (GN) is a benign tumor of the sympathetic nervous system following the sympathogonies that affects children and young adults. This is a rare tumor (7/1 000 000) which can be located along the sympathetic chain from the neck to the pelvis. In 20% of cases, the GN is localized in the adrenal.Objective and hypotheses: Report observations of eight patients with GN.Observations: Eight patients (two boys an...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...