ESPE Abstracts

Background: The interrelationships between body weight and thyroid status are complex. Serum TSH is typically increased in obese compared with lean individuals. Several mechanisms leading to hyperthyrotropinemia have been hypothesized.Objective and hypotheses: To compare thyroid function and autoimmunity in normal, overweight and obese healthy children and adolescents in our population. To analyse any metabolic risk factor related to hyperthyrotropinemia...

Introduction: Neonatal diabetes mellitus (NDM) is a rare monogenic disease associated with genetic defects in pancreatic beta cell number and/or function. It can be divided into two forms: transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM). TNDM is usually diagnosed within the first month after birth and usually regresses before the age of one year, but may reappear during adolescence. In contrast, PNDM is a lifelong di...

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...

Introduction: Gain-of-function mutations in KISS1 and KISS1R genes and loss-of-function mutations in the gene encoding the makorin RING-finger protein 3 (MKRN3) expressed only in the paternal allele are the most common genetic reasons of familial central precocious puberty (CPP).Aim: We report a case of familial CPP and a pathogen variant in the MKRN3 gene.<stron...

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

Aim: Resistance to thyroid hormone (RTH) is a disease characterized by decreased sensitivity to thyroid hormone in the peripheral tissues such as cell membrane, metabolism, or nuclear receptor. In THRB gene mutation induced RTH, the effect of T3 on TRβ mutant receptors in the liver and the pituitary decreased, on TRα receptors located in the brain and heart increased. Triac’s activity is similar to T3.Case: A 1-month-old girl patient was a...

The development of the artificial pancreas or closed loop for type 1 diabetes, which started as a concept in the last century, took off once continuous glucose monitors became available. The first hybrid closed loop entered the market in 2016, where now several systems compete. This creates the ‘luxury problem’ of having to choose between different systems. Anonymized CGM data collection from company databases try to address the question whether performance in opti...

There are inherent challenges in developing guidelines that incorporate practice variations reflecting geographic differences in the incidence of pediatric thyroid cancer, variable access to health care, differing cultural norms, and disparate local and regional resources across the breadth of our global pediatric thyroid community. Over the last decade, multiple pediatric guidelines on the evaluation and management of thyroid nodules and differentiated thyroid cancer have bee...

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

Introduction: ADH1 is caused by Calcium Sensing Receptor (CaSR) gain of function (GoF) variants, leading to hypoparathyroidism, hypocalcaemia, seizures, hyperphosphatemia, hypomagnesaemia and severe hypercalciuria. Conventional treatment (Alphacalcidol, Calcium) predisposes to nephrocalcinosis and renal impairment and may not reduce seizures. We previously reported that CSPI by insulin pump effectively increased serum calcium concentrations and reduced seizure...