ESPE Abstracts

Background and Aim: Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). Current guidelines in Germany recommend polysomnography at 2-3 months and cranial imaging at 6-9 months of life in achondroplasia, whereas American Academy of Pediatrics recommends to evaluate every infant with achondroplasia for cranio-cervical junction risks via neurologic examination, polysomnography an...

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...

Background and Methods: PCOS is common in adolescents and imparts a significant health and economic burden. Yet, our understanding of its complex pathogenesis is lacking. Proteomic analyses would be a valuable tool to deepen our knowledge of the biological pathways which underpin PCOS, and to identify novel biomarkers to diagnose and monitor this common condition. Therefore, we undertook a deep phenotyping discovery proteomic profiling (nano-2D-LC-QTOF MSe) on...

An 11 year 8-month-old girl presented to her oncologist with recent voice change and increased leg hair growth. She had a past history of pelvic rhabdomyosarcoma in 2012, at age 2, with relapse and local metastasis at age 4. Prior to original tumour treatment, oophoropexy had been performed, aiming to prevent ovarian radiation exposure. At time of the new complaint, she was receiving a trial treatment. Puberty was reported to have commenced at age 10, with 6-months of increase...

Background: POR deficiency is a rare form of congenital adrenal hyperplasia, transmitted in an autosomal recessive trait, that is characterized by ambiguous genitalia, impaired steroidogenesis and skeletal malformations similar to those of Antley-Bixler syndrome. It is caused by mutations in the P450 oxidoreductase gene (POR), an electron donor for all microsomal P450 enzymes including the three steroidogenic enzymes P450c 17 (17 alfa-hidroxylase /17,20 lyase)...

Background: Cytosine-guanine(CpGs) sites in molecules identified as methylated or unmethylated; the combination of them in the genetic sequence of an individual includes a methylation haplotype (methyl-haplotype) for a specific locus. The insulin gene promoter(IGP) is highly regulated by methylation mechanisms, which lead to alteration of gene expression.Aim: To identify IGPmethyl-haplotypes among children/adolescents wi...

Introduction: Oncocytomas are rare epithelial tumors that can be found in various tissues such as kidney, salivary and endocrine glands. Adrenocortical oncocytomas (AON) are very rare tumors with around 160 patients described in the literature. Generally they are regarded as benign and mostly hormonally nonfunctional. When hormonally active, these tumors produce adrenal steroids resulting in various clinical presentations such as virilization, feminization, an...

Background: Congenital Hyperinsulinism (CHI), a condition characterised by dysregulation of insulin secretion from the pancreatic beta cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycaemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI. Biallelic inactivating mutations (homozygous or compound heterozygous) in ABCC8 and KCNJ11 are know...

Sex chromosome disorders, including sex chromosome mosaicism, result in a large clinical spectrum. There is scarce information about the histological pattern of these gonads.Aim: to characterize the histology and cell markers pattern in gonads of patients with chromosomal mosaicism.Gonadal biopsies from thirteen patients with chromosomal mosaicism, including chromosome Y were studied. Six were rearing as male and s...

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...