Searchable abstracts of presentations at key conferences in endocrinology

ea0078emm2.1 | Symposium 2 | BSPED2021

GnRH analogue treatment for gender dysphoria

Hannema Sabine

An increasing number of transgender adolescents seeks medical care. After careful assessment and in the absence of contraindications, adolescents who have entered puberty, wish treatment and can provide informed consent can be treated with a GnRH analogue (GnRHa). This prevents further development of secondary sex characteristics incongruent with gender identity and provides the adolescent time to consider the option to undergo further gender affirming treatment. Studies on th...

ea0092ps2-20-09 | Thyroid hormone receptors basic | ETA2023

The relevance of histidine 175 in thyroid hormone receptor alpha 1 for co-repressor binding revealed by a family carrying a H175R variant

Liao Wenjun , Meima Marcel , Groeneweg Stefan , Hannema Sabine , Edward Visser W.

Background: Resistance to thyroid hormone (TH) alpha (RTHα), caused by heterozygous mutations in THRA, is characterized by abnormal thyroid function tests and features due to tissue-specific hypothyroidism, including disproportional short stature, variable motor and cognitive defects, macrocephaly and macroglossia, constipation and anemia. Mutant receptors display defective T3 binding resulting in impaired transcriptional activity. Dominant negative inhibition of the WT r...

ea0078p1 | Adrenal | BSPED2021

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , van den Akker Erica , Sartori Sanchez Bachega Tania Aparecida , Baronio Federico , Birkebaek Niels Holtum , Bonfig Walter , Claahsen Hedi , Correa Costa Eduardo , Devries Liat , Elsedfy Heba , Guven Ayla , Hannema Sabine , Iotova Violeta , van der Kamp Hetty J , Clemente Leon Maria , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Ana , Poyrazoglu Sukran , Probst-Scheidegger Ursina , De Sanctis Luisa , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils

Background: Congenital Adrenal Hyperplasia (CAH) requires exogenous steroid replacement and can be monitored with 17-OH Progesterone and Androstenedione. We reviewed real world data to evaluate these markers in relation to hydrocortisone dose in patients treated in 21 centres throughout 14 countries.Method: Retrospective cohort study using pseudonymised data from patients with 21α-Hydroxylase Deficiency recorded in the International Congenital Adren...

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 ...

ea0066oc1.1 | Oral Communications 1 | BSPED2019

Exploring trends in the glucocorticoid and mineralocorticoid treatment of congenital adrenal hyperplasia by analysing data from the I-CAH registry

Bacila Irina-Alexandra , Blankenstein Oliver , Neumann Uta , Grinten Heidi L Claahsen-van der , Krone Ruth , Bachega Tania SS , Miranda Mirela C , Mendonca Berenice , Birkebaek Niels H , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Tomlinson Jeremy W , Elsedfy Heba , Balsamo Antonio , Ortolano Rita , Hannema Sabine , Higham Claire , Atapattu Navoda , Lichiardopol Corina , Guran Tulay , Abali Zehra , Mohnike Klaus , Finken Martijn JJ , Vieites Ana , Darendeliler Feyza , Guven Ayla , Korbonits Marta , Vries Liat de , Costa Eduardo , Einaudi Silvia , Kamp Hetty van der , Iotova Violeta , Ross Richard , Ahmed S Faisal , Krone Nils

Introduction: There is no unified approach in clinical practice regarding the medical management of congenital adrenal hyperplasia (CAH), despite existent international guidance. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of patients with CAH.Methods: We collected data recorded by 33 centres from 16 countries in the I-CAH Registry. We analysed patient visits between 1982 and 2018,...

ea0094p161 | Adrenal and Cardiovascular | SFEBES2023

An international study of the association between local health care resources and acute adrenal insufficiency events in children with congenital adrenal hyperplasia

Tseretopoulou Xanthippi , R Ali Salma , Bryce Jillian , Nadia Amin , Atapattu Navoda , Bachega Tania , Baronio Federico , H Birkebaek Niels , Bonfig Walter , Claahsen-Van der Grinten L. Hedi , Cools Martine , de Sanctis Luisa , de Vries Liat , Elsedfy Heba , E Flueck Christa , Fu Antony , Guaragna-Filho Guilherme , Guran Tulay , Guven Ayla , E Hannema Sabine , Iotova Violeta , Konrad Daniel , Lenherr-Taube Nina , Korbonits Marta , P Krone Nils , Krone Ruth , Leka-Emiris Sofia , Lichiardopol R Corina , Luczay Andrea , L Markosyan Renata , Mazen Inas , Milenkovic Tatjana , Mohnike Klaus , Neumann Uta , Niedzela Marek , Nordenstrom Anna , Phan-Hug Franziska , Poyrazoglu Sukran , Probst Ursina , Randell Tabitha , Vieites Ana , Russo Gianni , Thankamony Ajay , van den Akker Erica , van Eck Judith , van der Kamp Hetty , G Wasniewska Malgorzata , Ahmed Syed Faisal

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry from 44 centres [32 from high income (HIC) and 12 from low/middle income (LMIC) countries] and a total number of 607 children were linked to the results of a health care survey of local r...

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...