Searchable abstracts of presentations at key conferences in endocrinology

ea0070s5.3 | Hyperthyroidism across the lifespan | ECE2020

Hyperthyroidism in adolescents

Niedziela Marek

The term “hyperthyroidism” is a form of thyrotoxicosis due to inappropriately high synthesis and secretion of thyroid hormone(s) by the thyroid. The leading cause of hyperthyroidism in adolescents is Graves’ disease; however, one should also consider other potential reasons such as toxic adenoma (TA) or a toxic multinodular goiter (TMNG), and other rare disorders leading to excessive production and release of thyroid hormones. The term “thyrotoxicosis&#...

ea0014s18.1 | Puberty and hypogonadism | ECE2007

Endocrine disorders of puberty

Niedziela Marek

Puberty is a process in humans that leads to the development of secondary sexual characteristics and reproductive capabilities. The physical changes of puberty result from two separate and independent but overlapping processes: gonadarche and adrenarche. The activation of hypothalamic-pituitary-gonadal (HPG) axis plays a key role in gonadarche whereas body weight and body mass index are postulated as triggering the adrenarche. The impairment of this cascade will result in temp...

ea0101ps3-27-07 | Thyroid and Genetics | ETA2024

The incidence of multinodular goiter in patients with DICER1 syndrome and the risk of cancer

Niedziela Marek , Sabbaghian Nelly , Kurzawa Pawel , Foulkes William

Objectives: The risk of multinodular goiter (MNG) and cancer in tumor-predisposition syndromes, is not well established in both, children and adults. MNG is a common clinical feature of DICER1 syndrome in children and adults. DICER1 syndrome is caused by germline pathogenic mutations in the DICER1 gene. The spectrum of ultrasonographic findings of MNG in DICER1mut+ patients is characteristic and largely distinct from typical features of thyroid malignancy and therefore should ...

ea0049gp220 | Thyroid 3 | ECE2017

Analysis of a large cohort of subjects with thyroid hemiagenesis (THA) reveals random seasonality in the dates of birth

Szczepanek-Parulska Ewelina , Zybek-Kocik Ariadna , Niedziela Marek , Czarnywojtek Agata , Ruchala Marek

Introduction: In the etiology of thyroid dysgenesis (TD) an interplay between genetic and environmental factors is thought to play a crucial role. Data from previous studies on association between the season of birth and the incidence of TD causing congenital hypothyroidism (mainly agenesis and ectopy) are conflicting. To date, seasonality of births have not been analysed yet in regard to congenital absence of one thyroid lobe (thyroid hemiagenesis, THA).<p class="abstext"...

ea0041ep1105 | Thyroid cancer | ECE2016

The increased coexistence of autoimmune thyroiditis (AIT) in children and adolescents with thyroid carcinoma (TC) in years 2001–2015 compared to years 1996–2000

Niedziela Marek , Flader Maciej , Harasymczuk Jerzy , Trejster Ewa , Breborowicz Danuta , Rabska-Pietrzak Barbara , Kurzawa Pawel , Breborowicz Jan

Introduction: In years 1996–2000, the predominance of papillary thyroid carcinoma (PTC) (70.3%) compared to follicular thyroid carcinoma (FTC; 27.0%) and medullary thyroid carcinoma (MTC; 2.7%) was observed in our region. AIT coexisted in 1 PTC (2.7% of all cancers and 3.8% in PTC group).Aim: The aim of retrospective study was to analyze the coexistence of AIT and TC in years 2001-2015 in relation to years 1996–2000.Mater...

ea0035p338 | Developmental Endocrinology | ECE2014

Genome-wide survey for clinically relevant structural abnormalities contributing to pathogenesis of combined pituitary hormone deficiency (CPHD) with childhood onset.

Budny Bartlomiej , Rydzanicz Malgorzata , Szymczak Klaudia , Szkudlarek Malgorzata , Wolinski Kosma , Wrotkowska Elzbieta , Baszko-Blaszyk Daria , Goleb Monika , Bednarczuk Tomasz , Ambroziak Urszula , Niedziela Marek , Obara-Moszynska Monika , Rabska Barbara , Derebecka Natalia , Bluijssen Hans , Wesoly Joanna , Ruchala Marek , Ziemnicka Katarzyna

Introduction: Combined pituitary hormone deficiency (CPHD) results in deficit of growth hormone and coexisting failure of synthesis or excretion at least another pituitary hormone. Transcription factors controlling expression of genes required for pituitary organogenesis are orchestrating entire development process and certain cell lineages differentiation, contributing therefore significantly to CPHD pathogenesis with childhood onset.Aims: The purpose o...

ea0059p181 | Reproduction | SFEBES2018

Gonadectomy for adults with DSD conditions at risk of hypogonadism in the international disorders of sex development registry

Herald Angela Lucas , Kyriakou Andreas , Bryce Jillian , Rodie Martina , Acerini Carlo , Arlt Wiebke , Balsamo Antonio , Baronico Federico , Bertelloni Silvano , Brooke Antonia , van der Grinten Hedi Claahsen , Cools Martine , Darendeliler Feyza , Davies Justin H , Desloovere An , Ellaithi Mona , Fica Simona , Gawlik Aneta , Guran Tulay , Hannema Sabine , Hiort Olaf , Holterhus Paul-Martin , Iotova Violeta , Jennane Farida , Lachlan Katherine , Li Dejun , Lisa Lidka , Mazen Inas , Mladenov Wilchelm , Mohnike Klaus , Nedelea Lavnia , Niedziela Marek , Nordenstrom Anna , Poyrazoglu Sukran , Rey Rodolfo , Tadokoro-Cuccaro Rieko , Weintrob Naomi , Ahmed Syed Faisal

Introduction: Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell tumours depending on the underlying diagnosis. To date however knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The I-DSD Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyotype who were over the ...

ea0103oc5.5 | Endocrine Oral Communications 1 | BSPED2024

Glucocorticoid replacement therapy in congenital adrenal hyperplasia and its associations with growth outcomes - real world data analysis from an international cohort of 1500 patients

A Bacila Irina , Lawrence Neil R. , Balagamage Chamila , Bryce Jillian , Ali Salma R. , Alimussina Malika , Chen Minglu , Arya Ved Bhushan. , Atapattu Navoda , Bachega Tania , Barat Pascal , Baronio Federico , Bertelloni Silvano , Birkebaek Niels , Bonfig Walter , Bruin Christiaan de. , - van der Grinten Hedi Claahsen. , Cools Martine , Costa Eduardo , Crowne Elizabeth , Davies Justin H. , Debono Miguel , Vries Liat de. , Kubat Katja Dumic. , Elsedfy Heba , Evliyaoglu Olcay , Flueck Christa , Gazdagh Gabriella , German Alina , Gevers Evelien F. , Globa Evgenia , Guran Tulay , Guven Ayla , Guazzarotti Laura , Hannema Sabine , Hatipoglu Nihal , Janus Dominika , Kamp Hetty van. de. , Karabouta Zacharoula , Krone Ruth E. , Leka-Emiri Sofia , Taube Nina Lenherr. , Lichiardopol Corina , Hassan Mona Mamdouh. , Marginean Otilia , Markosyan Renata , Mazen Inas , Miles Harriet , Mitchell Anna L. , Mohnike Klaus , Neumann Uta , Niedziela Marek , Nordenstrom Anna , O'Connell Susan M. , Phan-Hug Franziska , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Rey Rodolfo , Russo Gianni , Salerno Mariacarolina , Sanctis Luisa de. , Seneviratne Sumudu N. , Segev-Becker Anat , Shenoy Savitha , Skae Mars , Thankamony Ajay , Ucar Ahmet , Utari Agustini , Vieites Ana , Wasniewska Malgorzata , Ahmed S Faisal. , Krone Nils P.

Background and Aim: Previous research using data from the I-CAH registry showed wide variation between countries in the provision of glucocorticoid (GC) replacement in congenital adrenal hyperplasia (CAH). In this study, we aimed to establish the impact of different GC doses on height and weight in children and young people with CAH.Methods: Data from children with CAH recorded in the I-CAH registry since 2003 was collected, providing a cohort of 1522 pa...