ESPE Abstracts

The standard of care for the treatment of hypothyroidism is the administration of daily tablets of levothyroxine (LT4) at doses that normalize serum TSH levels. In most patients, this approach elevates serum thyroid hormone (TH) levels and eliminates symptoms of overt hypothyroidism. Nonetheless, treatment with LT4 in adults does not fully normalize the TH economy. Despite normal TSH levels, many patients exhibit a reduction in the serum T3/T4 ratio due to a relative excess of...

Background: Pediatric Central Nervous System (CNS) neoplasms are the most frequent solid tumors in children. Since the increase in survival, the patients are in high risk of developing long term sequelae. Endocrinological sequelae may be due to the oncological disease itself but usually derived from the treatment received, and they affect 20–50% of patients long-term. We aimed to review our experience from 2005 to 2015.Objective and hypotheses: Desc...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...

Background: Ovotesticular Disorder of Sex Development (OTDSD – true hermaphroditism) is rare, characterized by the presence of both presence of both testis and ovay tissue. Usually, these patients seek medical attention due to ambiguous genitalia.Case presentation: A 15-year-old boy, with ‘atypical’ genitalia and breast enlargement came for surgical correction. His genitalia had a more masculine aspect at birth and he had been submitted to...

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...

Background: Mauriac Syndrome (MS) is currently an extremely rare complication in type 1 diabetes mellitus (DM1). It is characterized by the triad: poor metabolic control, dwarfism and hepatomegaly. Other findings are elevated transaminases, dyslipidemia, cushingoid features and delayed puberty.Case: Male patient with DM1 since 5 years age. Coinciding with a family breakdown, from the age of 7 his metabolic control deteriorated significan...

Classical growth hormone insensitivity (GHI) is caused by a defect of the growth hormone receptor and is characterized by severe postnatal growth failure, craniofacial disproportion, IGF-I deficiency and normal or elevated levels of growth hormone. This is a rare condition. With the development of new genetic techniques during the last two decades other monogenetic defects resulting in milder forms of GHI have been identified. These include genes involved in the GH-IGF-I axis:...

Background: 125 patients between the ages of 6 and 12 years old were studiet, 100 of them were girls and 25 were boys. All of them were on medication with TSH. They were all residents in urban areas belonging to middle/upper strata of society.Objective and hypotheses: Changing it for the ingestion of nutriments. Physical exercise during at least 5 days a week. Medical treatment consisting of ferrous fumarat and folic acid.Method: D...

Background: Aggrecan (ACAN) deficiency is a cause of autosomal dominant short stature with bone age advancement and premature growth cessation. There is limited data on the use of growth hormone (GH) treatment and aromatase inhibitor (AI) in this condition and their effect on adult height.Objective: To describe the improvement in predicted adult height (PAH), height SDS, and near adult height (NAH) in a 14-year-old boy w...

Introduction: GH deficiency (GHD) in adults is associated with impaired cardiac function, contributing to increased mortality due to cardiovascular disease. Research has shown that adults with GHD have high levels of brain natriuretic peptide as a measure of cardiac function. GH replacement therapy can improve cardiac function and lower BNP levels. The scarce research carried out in children appears to show that GHD is linked to decreased left-ventricle size and reduced left-v...