ESPE Abstracts

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...

Background: Unlike precocious puberty, early and/or fast puberty have been less studied, despite the fact that this disorder may be associated to an organic lesion at CNS level.Objective and hypotheses: We illustrate a case of early and fast puberty in a girl with an occult intra-cranial tumor.Method: The girl was the first child of non-consanguineous, Italian parents. The family had a positive history of early puberty. Target heig...

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

Background: Differences in sexual development (DSD) are rare diagnoses, which affect the chromosomal, anatomical or gonadal sex differentiation. Although comprehensive counseling of patients and parents/carers is necessary to ensure a positive coping with the diagnosis and a well-informed decision-making, standardised programmes are lacking. Empower-DSD is a government-funded project, which developed an age-adapted multidisciplinary education programme to impr...

Background: Within the government-funded project Empower-DSD, modular training programmes for children and young adults aged 6-24 years with the diagnoses CAH, Turner-syndrome, Klinefelter-syndrome or XX-/XY-DSD (including MRKH) and their relatives were developed to improve diagnosis-specific knowledge, skills and empowerment. Overall, 105 trainings were offered between August 2020 and September 2022 in 5 centres with DSD expertise in Germany.<p class="abs...

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...

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...