ESPE Abstracts

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.Objective and hypotheses: To classify diabetes etiologies in youth with diabetes usin...

Background: Various endocrine complications are common after HSCT but primary adrenal insufficiency (Addison’s disease, AD) is absolutely rare. To the best of our knowledge, there is only one case of AD reported in a 9-year-old girl after HSCT and busulfan and cyclophosaphamide-based conditioning for myelodysplastic syndrome.Objective: We report on a 14-year-old boy from Albania who developed an Addisonian crisis 12.7 years after HSCT.<p class="...

Background: Pseudohypoaldosteronism (PHPA1) is a disorder of impaired renal electrolytes re-absorption and excretion. Primary PHPA1 has two clinically and genetically distinct forms: (i) Renal autosomal dominant form, which involves a mutation in the mineralocorticoid receptor; (ii) Systemic autosomal recessive form, which involves a mutation in the epithelial sodium channel. PHPA1 can be also transient secondary to urinary tract infections (UTI)/malformations.<p class="ab...

Background: Congenital adrenal hyperplasia (CAH) can present with salt loss, hyperkalemia and arrhythmias in the neonatal period. If CAH is not diagnosed and treated early, neonates are susceptible to sudden death in the first few weeks of life. This problem is particularly critical in boys who have no genital ambiguity to alert physicians before the onset of dehydration and shock.Objective and hypotheses: We recommend that a diagnosis of CAH be consider...

Background: Renal tubular acidosis (RTA) is an uncommon cause of growth failure and rickets. In Haiti, diagnostic evaluation and management is challenged by limited access to comprehensive diagnostic tools.Case presentation: An 8-year-old Haitian girl was evaluated at an academic referral center for bony deformations and bone pain, progressive over the previous six years. Her 2.5 year-old sister presented similar symptoms, associated with dental caries a...

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a transient, recurrent or persistent course. Transient CHI (tCHI) is considered to be caused by non-genetic risk factors e.g. birth asphyxia and intrauterine growth restriction (IUGR), while persistent hyperinsulinism is known to be caused by mutations in at least nine genes: ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A and UCP2.Objective and hy...

Background: Children at type 1 diabetes (T1DM) diagnosis can develop ketoacidosis (DKA), a life-threatening condition, which is most frequently associated with the onset of diabetes in children aged <5 years.Aims and objectives: We studied the prevalence of DKA at T1DM diagnosis and the frequency of partial remission (PR) in children from Wielkopolska province, Poland.Method: The cohort comprised 735 children aged 0–18 yea...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

Background: Limbic encephalitis (LE) is a neurological disorder characterized with amnesia, seizures, personality changes. LE is usually considered as paraneoplastic disorder. Infections, paraneoplastic disorders and autoimmunity should be considered in LE etiology. Association of type 1 diabetes mellitus and LE is very rare. Here in we report a patient who was diagnosed with type 1 diabetes mellitus (T1DM) six months after LE occurrence.Case: A 17-year-...