ESPE Abstracts

Introduction: X-linked hypophosphataemic rickets (XLH), due to mutations in the PHEX (Phosphate-regulating Endopeptidase homolog; X-linked) gene, causes reduced bone and dentin mineralisation and decreased renal phosphate reabsorption. Mosaic PHEX mutations are reported only in a few case reports.We report three male cases, with mosaic pathogenic PHEX variants, showing importance of considering this in the diagnosis of XLH.Case 1 pre...

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

Introduction: Obesity is a significant public health concern affecting children and young people (CYP) worldwide. The impact of obesity on CYP is multi-faceted and can have a significant effect on their lives. They are at risk of being stigmatized and discriminated against, leading to poor academic performance and social functioning. It is crucial to assess the impact of obesity on the lives of CYP through tools such as Health-related quality of life (HRQOL) q...

We present the case of a 11-years-old girl who came to our attention for a first critical episode lasting a few minutes, with spontaneous resolution, described as a generalized clonic tonic crisis, which occurred in full well-being. An electroencephalogram (EEG) was performed which showed focal epileptiform anomalies in the right temporal center that spread evoked by hyperpnea and eye closure and an EEG after sleep deprivation that showed an accentuation of the anomalies in ph...

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding pot...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: Among their metabolic effects, GH and its mediator IGF1 have been reported to influence hematopoiesis. Indeed, GH/IGF1 axis promotes erythropoiesis and GH deficiency (GHD) has been associated with a normochromic and normocytic anemia both in adults and in children. In contrast, in vivo data on the effects of GH/IGF1 axis on leukocytes and platelets are scanty.Objective and hypotheses: To evaluate the effects of 4-years GH replacement...

Background: Children and young people living with severe obesity experience a range of complications of excess weight (CEW), however the prevalence of complications is not well defined. We have evaluated baseline clinical characteristics and CEW of patients seen in two multi-disciplinary tier-3 paediatric weight management services in different regions of the UK.Methods: All new patients (n=185) aged 2-17 years ...

Introduction: Turner syndrome (TS) is a rare X-chromosomal disease, which affects one in 2500-3000 female newborns. TS is associated with a distinct cardiovascular morbidity and mortality. Arterial hypertension is present in up to 50% of young TS women and closely related to the onset of aortic dilatation and dissection. The effective management of arterial hypertension can be considered as crucial to improve overall cardiovascular outcome of TS women. In the ...

Aims/hypothesis: The Wolfram syndrome, also known as the DIDMOAD syndrome (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness), is mostly associated with recessive mutations in the WFS1 gene. However, dominant mutations in the WFS1 gene were described as causing less severe Wolfram-like syndrome, or isolated optic atrophy, or low-frequency sensorineural hearing loss.Method...