ESPE Abstracts

Background: Extensive and time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20% of 46,XY cases with ambiguous genitalia. It is currently unclear if such extensive screening might also be indicated in 46,XY newborns with milder undervirilization.Method: All 46,XY neonates and infants (n=32, EMS 2–12) referred to our pediatric endocrine service for atypical male genitalia in the period 2007–2013 were inve...

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...

Background: MicroRNAs (miRNA) are small non coding RNA molecules, key regulators of metabolic pathways. Obesity is characterised by many metabolic changes. NAFLD is seen as a complication of obesity. FOXO-1, key regulator in insulin signalling, has been shown to be implicated in NAFLD. We previously identified miRNAs regulators of the FOXO-1 gene.Objective and hypotheses: To assess in serum whether the regulation of miR-146a and miR-486-5p, FOXO1 gene re...

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

Introduction: As of May 2021, German law protects children with differences of sex development (DSD), including females with congenital adrenal hyperplasia (CAH), from non-consensual genital surgery. Parents can consent only in emergencies; all other surgeries require the child's consent. Exceptions are allowed by law, with the approval of the family court following a positive decision by a multidisciplinary committee. If the family presents a positive de...

Background: Many epigenetic factors, including microRNAs, are involved in the process of changing gene expression. MiRNAs are small non-coding RNA molecules that regulate gene translation by silencing or degrading target mRNAs. They are recognized as novel diagnostic and prognostic biomarkers for many diseases. Patients with autoimmune thyroid diseases are more likely to develop nodules in the thyroid tissue, and Hashimoto's thyroiditis and Graves’ ...

Introduction: In the literature, there are reports about nephrocalcinosis (NC), hypercalcemia, and hypercalciuria risk in patients with congenital adrenal hyperplasia (CAH). The prevalence and background of nephrocalcinosis is not established. Nephrocalcinosis refers to diffuse calcification in the renal parenchyma, generally in renal pyramids.Aim of the study: The study aimed to evaluate the prevalence of nephrocalcinos...

Introduction: The suspected diagnosis of an intersex condition in a child often causes great uncertainties in families. Since these are rare diagnoses, families often do not receive timely and comprehensive information. The Empower-DSD information management defines a structured multidisciplinary care and information exchange for children and their caretakers in the first 8-12 weeks after a suspected DSD diagnosis.Methods:</stron...

Key words: autoimmune diseases, autoimmune thyroid disease, Hashimoto thyroiditis, Graves DiseaseIntroduction: Autoimmune diseases are significant and common health problem, which incidence in population increase. They affect 3- 5% of the general population, mainly females. The most common in children are: autoimmune thyroid disease (AITD) and type 1 diabetes mellitus (T1DM). AITD and T1DM are known from their prevalence...

Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...