ESPE Abstracts

Keywords: Non-syndromic obesity, single gene disorder, child.Objective: This study aimed to evaluate the clinical characteristics, molecular genetic analysis results, and obesity-related comorbidities of patients with non-syndromic monogenic obesityMaterials and Methods: The results of a targeted next-generation sequence analysis panel (Clinical Exome Solution v2 - SOPHiA GENETICS)...

Background and aims: Poly- and perfluoroalkyl substances (PFAS) are non-degradable, man-made-chemicals. PFAS are considered to be ‘Endocrine Disrupting Chemicals’ (EDCs), a group of chemicals which have been reported to interfere with endocrine processes and cause adverse effects on perinatal, neurodevelopmental, metabolic and reproductive outcomes. Especially when exposure occurs during susceptible periods of human development, such as early life....

Background and aims: Insight into which determinants associate with bone mineral density (BMD) is needed for targeted therapy in children with a low BMD for chronological age but also for preventive treatment on population level. Currently, studies investigating determinants of BMD in children aged <4 years are scarce. The primary aim of our study was to assess which determinants associate with BMD total body less head (BMDTBLH) at around age 6 m...

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case-control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a ‘v...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case–control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a &#...

Background: Patients with autoimmune Addison’s disease (AAD) lack production of glucocorticoids (GCs), mineralocorticoids (MCs) and androgens from the adrenal gland, due to autoimmune destruction of its cortex. Patients require replacement of GCs and MCs for the rest of their lives. In some cases, testosterone is supplemented in females. Brain function is sensitive to fluctuations in cortisol and may therefore be affected in AAD due to long-term disturba...

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

Background: Central diabetes insipidus may result from mutations in the preproAVP gene, most often heterozygous and occurring de novo or inherited in an autosomal dominant mode; in these cases, intracellular accumulation of the misfolded product of the mutated allele slowly destroys the AVP-producing neurons, so that the onset of symptoms may be delayed for up to 28 years by which time the posterior pituitary hyperintense signal is no longer visible on magnetic resonance imagi...