ESPE Abstracts

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

Background: Partial androgen insensitivity syndrome (PAIS) covers a large spectrum of phenotypes, with the common denominator being insufficient virilisation of the external genitalia in an XY child with normal testosterone (T) production. Genetic diagnosis of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: The aim of this work was to determine whether the PAIS-like phenotype is associated with other gene mutations.</p...

Background: The clinical diagnosis of partial androgen insensitivity syndrome (PAIS) should be systematically considered for all 46,XY newborns/infants with undervirilisation contrasting with normal/elevated plasma testosterone levels. Confirmation of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: This work was undertaken to determine whether the minor forms of undervirilisation such as isolated hypospadias, isolated ...

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of embryonic tumors during early childhood. About 80% of patients with BWS show a molecular defect in the 11p15 imprinted region. Loss of methylation at the imprinting control region 2 (ICR2) is the most frequent defect which leads to a loss of expression of the CDKN1C gene, increasing cell proliferation. These epigenetic defects occur mostly as a mosaic event.<p cl...

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

Background/Aim: Leucocyte telomere length (LTL) is a robust marker of biological aging and is associated with obesity and cardiometabolic risk factors even in childhood and adolescence. The aim of the present study was to assess the effect of a structured, comprehensive, multidisciplinary, personalized, lifestyle intervention program of healthy diet and physical exercise on LTL in children and adolescents with overweight and obese.Materi...

Background: Prader-Willi syndrome is a rare genetic neurodevelopmental disorder caused by a paternal deficiency of maternally imprinted gene expression located in the chromosome 15q11-q13 region. Previous studies have demonstrated that several classes of neurodevelopmental disorders can be attributed to either over- or under-expression of specific genes that may lead to impairments in neuronal generation, differentiation, maturation and growth. Epigenetic chan...

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

Purpose: Clinical problems caused by impaired molecular function of inborn errors of immunity (IEI) genes are not limited to the immunological system but can also affect the endocrine system. An autosomal recessive form of severe congenital neutropenia also known as Kostmann syndrome (KS) is caused by mutations in the gene encoding the mitochondrial protein HAX1. Knowing that most endocrine disorders associated with IEI are hypofunction, a close cooperation be...

Current hormone substitution therapy of patients with congenital adrenal hyperplasia (CAH) is suboptimal and cannot mimic physiological daily rhythms of hormone secretion. As supra-physiological corticoid doses are necessary to avoid adrenal androgen excess, patients show substantially increased comorbidities such as hyperglycemia, arterial hypertension, reduced growth and osteoporosis. Moreover plasma ACTH is often inadequately suppressed, resulting in undesired excess adrena...