ESPE Abstracts

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

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Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, informa...

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

Aim: to assess and follow-up anthropometric and biochemical parameters in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an intensive phase duri...

Introduction: PGD is characterized by hyperthyroidism and antibodies against the TSH receptor (TSHRAB). Reported annual incidence is 4,58/100,000.Objective: To describe an Argentinean cohort with PGD followed between 2006 and 2020 at the Ricardo Gutierrez Children’s Hospital.Material and Methods: Retrospective study of 69 patients, who were treated initially with antithyroid ...

Introduction: Type 1 Diabetes Mellitus (DM1) is an autoimmune disease resulting from the destruction of pancreatic β cells. After the diagnosis, up to 80% of patients spontaneously experience partial remission (PR) for months. New biomarkers are being studied, such as the betatrophin protein (ANGPTL8) of unknown function, but which could be involved in the evolution of DM1, in this phase of RP and even used as a therapeutic target.Methods: Observati...

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

Background: Severe Hypertriglyceridemia (HTG) defined as triglycerides (TG) in blood plasma higher than 1000 mg/dl is a rare condition in childhood. Its causes are classified as primary and secondary and among these last they include pharmacological causes. Steroids associated with some chemotherapy drugs, particularly asparaginase (Asp), are a combination with special risk.Objective and hypotheses: Describe the evolution of lipids profile in LLA patient...