ESPE Abstracts

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) can be challenging. Copeptin is the C-terminal segment of the vasopressin precursor peptide that represents a novel and stable biomarker. Arginine infusion produces a nonosmotic stimulus that causes an increase in copeptin concentrations in healthy subjects. Arginine-stimulated copeptin concentrations have been used to differentiate between patients wi...

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsu...

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...

Introduction: Congenital hypopituitarism is a heterogeneous disorder with isolated hormone deficiency(IPHD) or combined(CPHD). Main risk factors for CPHD include H-P abnormalities such agenesis corpus callosum(ACC), anterior pituitary hypoplasia(APH), ectopic posterior pituitary(EPP), pituitary stalk interruption(PSI), septo-optic dysplasia(SOD), and holoprosencephaly(HPE).Patients and Methods: Prospective and longitudin...

Introduction: Differential diagnosis of partial arginine vasopressin deficiency (P-AVPD) and primary polydipsia (PP) can be challenging. Arginine-stimulated copeptin concentrations have been used to differentiate between arginine vasopressin deficiency (AVPD) and PP, setting a copeptin value of 3.8pmol/L at 60 min as a cut-off point in adults.Objective: To evaluate the efficacy and safety of the arginine-stimulated test ...

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...

Introduction: Thyroid dyshormonogenesis (TD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. It presents clinical heterogeneity, from subclinical hypothyroidism (SH) to goitre. The clearer understanding of the pathways and enzymatic activities involved in the synthesis of thyroid hormones has allowed us to identify an important number of causal genes. Defective organification...

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...