ESPE Abstracts

Background: AHDS is a devastating disease caused by defects in the thyroid hormone (TH) transporter MCT8. Endocrine expression is heralded by systemic hyperthyroidism with elevated serum T3, mildly increased TSH and decreased T4. However, the brain is hypothyroid, causing severe psychomotor retardation. Therapeutic attempts with PTU+levothyroxine or the T3-analogue DITPA could normalize TH derangements but without any neurological improvement. ...

Background: Obesity in childhood is defined by age- and sex-specific BMI cut-off values. However, BMI does not disclose the distribution of fat mass. Increased abdominal adipose tissue is associated with a higher risk of cardio-metabolic disease in adulthood. Thus, precise measurements of abdominal adipose tissue in children may enable early prevention of disease.Objective and hypotheses: To validate measurements of abdominal adipose tissue by anthropome...

Background: Growth during infancy is a continuation of the rapid fetal growth and its regulation is complex and multifactorial. It is well-established that insulin-like growth factor-I (IGF-I) and its regulators (e.g. IGF binding proteins (IGFBP-3) and pregnancy-associated plasma protein-A2 (PAPP-A2)) are important for prenatal and postnatal growth; however, their significance for growth during infancy is not fully explored.Aims: The aim...

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...

Background: Congenital hyperinsulinism (CHI) is a rare disorder, which causes persistent and severe hypoglycaemia in infants and children. CHI can be treated with glucagon, but long-term use is challenging owing to its instability in aqueous solution. Dasiglucagon, a stable glucagon analogue designed for long-term use as a subcutaneous continuous infusion, is in clinical development. Here, we present dasiglucagon safety results in participants treated for up t...

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

Introduction: Neonatal Diabetes Mellitus (NDM) is characterised by severe hyperglycaemia, usually diagnosed in the first 6 months of life. Genetic diagnosis helps distinguishing between its different causes and between transient (TNDM) and permanent (PNDM) forms, with repercussions on the therapeutic approach and follow-up.Aim: Clinical and molecular characterisation of a series of NMD cases under endocrinological follow...

Introduction: Autoimmune thyroid diseases (ATD) are the most common autoimmune disorders associated with type 1 diabetes (T1D). Most patients present hypothyroidism. Although hyperthyroidism is less frequent, severe forms of thyrotoxicosis coexisting with diabetic ketoacidosis (DK) have been described in children with either preexisting diabetes, thyroid disease, or both. Celiac disease (CD) incidence is higher and ranges from 0.6-16.4%....

Background: Resistance to thyroid hormone alpha (RTH-α) is characterized by varying degrees of symptoms and findings related to hypothyroidism. However, diagnosis is difficult since thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal, but normo- or macrocytic anemia is generally present in the reported cases. L-thyroxine can alleviate some symptoms; however, there is limited ...

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...