ESPE Abstracts

Background: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form.Objective and hypotheses: We describe a child with an unusual hypothyroidism presentation characterized by multi-organ involvement and related to acquired autoimmune thyroiditis during a ve...

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,...

Background: Thyroid dysfunction is a well-known endocrine complication after cervical irradiation for Hodgkin’s lymphoma (HL). The most common are primary hypothyroidism (20–30%), central hypothyroidism, transient thyroiditis and thyroid cancer. Graves’ disease (GD) is less frequent (5%).Objective and hypotheses: We describe a boy, already diagnosed with thyroiditis, who developed GD during follow-up for severe hypothyroidism following rad...

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: SGA cohort study in analytical and metabolic variables at 3 and 12 months of age with somatométrica situation.Material and methods: Live births in singleton pregnancies in our hospital during 2012–2014, PEG were studied according EG and weight/height (Spanish Tablas 2008). Tours are conducted at 0, 3, 6, 9, 12 months, with measurements of weight, height and perimeter. Blood samples are obtained at least fasting discussed 4h and exce...

Background: Cohort SGA in North of Spain – EPIPEG.Objective and hypotheses: Establish a SGA cohort for monitoring, assessment catch-up, and analysis of middle-environmental and social factors.Method: We study live births in singleton pregnancies in our hospital during 2012–2014, and are classified according age gestation (EG) and weight/height (Spanish growth 2008). Visits were made at 0, 3, 6, 9, 12 months, with measurem...

Background: epidemiological studies reported an increased incidence of central precocious puberty (CPP) during the last year compared to previous year. Confinement measures and consequent daily routine modifications applied to contain coronavirus infectious disease-19 (COVID-19) contagion have been proposed as a cause of this phenomenon. Our study aims in investigating changes in CPP rates in a tertiary paediatric endocrinology outpatient clinic of South Italy...

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

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...