ESPE Abstracts

Background: Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) is a rare genetic condition caused by de novo mutations in the KAT6B gene, which encodes lysine acetyltransferase 6B, an enzyme involved in chromatin modification. The clinical phenotype is characterized by global developmental delay and multiple congenital abnormalities, including a number of distinctive facial features (ptosis, blepharophimosis, and mask-like appearance), skeletal involvement (...

Background: Noonan Syndrome (NS) is a genetic disorder mainly inherited in an autosomal dominant manner, which prevalence is estimated to range from 1:1,000 to 1:2,500 live births. Characteristic features of NS include short stature, distinctive craniofacial dysmorphisms (e.g., hypertelorism, low-set ears, broad and short neck), skeletal anomalies and cardiovascular defects. The genetic basis involves, most commonly, mutations in the PTPN11 gene, KRAS gene and...

The measurement of serum FGF23 plays a pivotal role in the differential diagnosis of patients with hypophosphatemia. However, its interpretation may be difficult in some cases. We report the case of a child with rickets and severe hypophosphatemia, where both intact FGF23 (iFGF23), the active form, and C terminal FGF23 fragments (C-FGF23) were measured.Case report: A 5.7-year-old girl, born at term from first-grade-related Pakistani pare...

It is estimated that single-gene mutations are responsible for 3-10% of childhood obesity cases. The most common of these is a mutation in the MC4R gene, occurring in about 1-6% of children and 1% of adults with early-onset severe obesity. We report on of 7-year-old male twins with severe obesity (86% and 75% excess body mass relative to height), starting from the second year of life, along with hyperphagia. The boys were born from a twin pregnancy, PIII, CC, at 37 weeks of ge...

Background: Autosomal recessive primary microcephaly (MCPH; “small head syndrome”) is a rare, heterogeneous disease arising from the decreased production of neurons during brain development. 25 genes are implicated in causing MCPH among them the RTTN gene. Here we present the case of a boy from two unrelated parents presenting with a complex phenotype carrying a novel mutation in the RTTN gene.Case Pr...

Introduction and objectives: Imprinted genes have been broadly related to prenatal growth regulation. PEG10 is a maternally imprinted gene involved in cellular proliferation that is mainly expressed in the placenta and in some adult tissues. In mice, mutations in this gene have been related to growth restriction of both the embryo and the placenta. Nevertheless, its role in postnatal growth has not yet been established. We aimed to study prospectively the rela...

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that the ZnT family plays an important role in the synthesis and secretion of many hormones like insulin. We studied the prevalence of ZnT8 Ab in patients with autoimmune thyroid diseases (AITD).Material and methods: The study was performed in the group consisting of 20 Grav...

Introduction: Imprinted genes are critical for placental function and normal fetal growth and development. Very little is known about the impact of maternal obesity on imprinted genes and their role in postnatal growth and metabolism.Objectives: 1) To identify umbilical cord DNA methylation sites (CpG) associated with gestational weight gain (GWG); 2) to identify which of these CpGs lie within imprinting control regions ...

Introduction and aims: MEST (Mesoderm-specific transcript), a candidate gene for Silver-Russell syndrome, is a paternally expressed imprinted gene that positively regulates foetal growth. MEST has also been shown to promote adipose tissue expansion in conditions of positive energy balance. In this context, our objective was to study the possible relationship between placental MEST gene expression and postnatal growth and obesity para...

The ongoing European LIFE-MILCH project(www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages to establish a risk assessment model to prepare safety guidelines. In this study we have evaluated the effects of maternal diet during and after pregnancy, and of duration of ...