hrp0082p2-d1-586 | Thyroid | ESPE2014

Thyroid Function and Autoimmunity and Their Relation to Weight Status in Healthy Children and Adolescents

Garcia-Garcia Emilio , Galera-Martinez Rafael , Garcia-Escobar Iciar , Oliva-Perez Patricia , Gomez-Llorente Jose L. , Momblan Jeronimo , Vazquez-Lopez Maria A. , Perales Antonio Bonillo

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...

hrp0098p2-73 | Diabetes and Insulin | ESPE2024

Neonatal Diabetes Due to Insulin Gene Mutation

Liv Çanga Betül , Karagöz Kıymet , Şeyma Eken Emine , Korkmaz Vural Meltem , Yağmur Baş Ahmet , Kurnaz Erdal , Keskin Melikşah , Aslı Bala Keziban , Kolkıran Abdulkerim , Sezer Abdullah , Savaş Erdeve Şenay

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...

hrp0092p1-245 | Multisystem Endocrine Disorders | ESPE2019

PTEN Hamartoma Tumor Syndrome (Overlap of Cowden syndrome and the Bannayan-Riley-Ruvalcaba Syndrome): Case Report

Manyas Hayrullah , Çatli Gönül , Eroglu Filibeli Berna , Ayranci Ilkay , Özdemir Taha Resid , Dündar Bumin Nuri

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...

hrp0092p3-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

Eroğlu Filibeli Berna , Ayranci İlkay , Manyas Hayrullah , Kirbiyik Özgür , Dündar Bumin , Çatli Gönül

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...

hrp0089p2-p059 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Arthrogryposis Multiplex Congenita Type II and Panhypopituitarism

Bideci Aysun , Doğer Esra , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

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...

hrp0089p2-p386 | Thyroid P2 | ESPE2018

Triac Treatment Response to Thyroid Hormone Resistantance

Cinaz Peyami , Uğurlu Aylin Kılınc , Doğer Esra , Akbaş Emine Demet , Bideci Aysun , Camurdan Orhun

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...

hrp0097pl8 | Real world use of closed loop insulin delivery | ESPE2023

Real world use of closed loop insulin delivery

DeVries J Hans

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...

hrp0098s9.2 | Novel advances in paediatric thyroid disease | ESPE2024

Pediatric thyroid cancer guidelines: challenges in stratifying care based on limited data

Bauer Andrew J

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...

hrp0084p3-1007 | Growth | ESPE2015

Depth and Timing of Hypoglycaemia Achieved During Insulin Tolerance Test in Children

Wong S C , Boroujerdi M , McNeilly J , Morris W , Carson C , Mason A , Shaikh G , Ahmed S F

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...

hrp0098p1-220 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Safety and efficacy of continuous subcutaneous PTH (1-34) infusion therapy (CSPI) for severe autosomal dominant hypocalcaemia type 1 (ADH1) in Children and Young People (CYP)

Perogiannaki Aikaterini , Meshari Alattar Mohammad , Baske Kishore , Gorrigan Rebecca J. , Smith Oladimeji , Pullen Debbie , Sankaranarayanan Sailesh , Allgrove Jeremy , Gevers Evelien

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...