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hrp0098p2-265 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Gonadal function and outcome in 46, XX testicular/ovotesticular DSD – first round collection data from the I-DSD Registry study.

Sepich Margherita , Bertelloni Silvano , Tyutyusheva Nina , Lucas-Herald Angela , Mazen Inas , Cools Martine , Poyrazoğlu Şükran , Hiort Olaf , Döhnert Ulla , Neumann Uta , Phan-Hug Franziska , Atapattu Navoda , Nimali Seneviratne Sumudu , Markosyan Renata , Suco Sofía , Baronio Federico , Lichiardopol Corina , Verkauskas Gilvydas , Rita Stancampiano Marianna , Russo Gianni , Konrad Daniel , Lenherr-Taube Nina , E Hannema Sabine , Thankamony Ajay , Gazdagh Gabriella , G Peroni Diego , Faisal Ahmed S

Background: Testicular and ovo-testicular 46,XX-DSD are very rare conditions that have a variable presentation and often pose challenging questions regarding long-term outcome of gonadal function.Methods: Eligible cases were identified in the I-DSD Registry and centres were asked to update the clinical dataset to their last available assessment. The cases were categorised by assigned sex and age categories. Elevated and ...

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hrp0097fc1.5 | Adrenals and HPA Axis | ESPE2023

Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice

BN Lim David , Bryce Jillian , R Ali Salma , Tseretopoulou Xanthippi , H Birkebaek Niels , E Hannema Sabine , Campos-Martorell Ariadna , Clemente Maria , Neumann Uta , E Flück Christa , Metzger Sara , E Krone Ruth , German Alina , Baronio Federico , Atapattu Navoda , N Seneviratne Sumudu , Cools Martine , Mieke Théry , Guran Tulay , Yavas Abali Zehra , Fu Antony , Janus Dominika , Wasniewska Malgorzata , Coco Roberto , Russo Gianni , Rita Stancampiano Marianna , Bonfig Walter , Salerno Mariacarolina , L Claahsen-Van Der Grinten Hedi , PH Adriaansen Bas , Bachega Tania , Cavalieri Costa Fernanda , Marginean Otilia , De Sanctis Luisa , Probst Ursina , Lenherr-Taube Nina , Konrad Daniel , O’Connell Michele , Gawlik Aneta , E Sandberg David , Shnorhavorian Margarett , Krone Nils , Faisal Ahmed S , H Davies Justin

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

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hrp0097p1-3 | Adrenals and HPA Axis | ESPE2023

Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia (CAH): Changes During The Period 2019-2022 In I-CAH

Tseretopoulou Xanthippi , R Ali Salma , Bryce Jillian , Amin Nadia , Atapattu Navoda , Bachega Tania , Baronio Federico , H Birkebaek Niels , Bonfig Walter , H Davies Justin , Thomas Tessy , de Vries Liat , Elsedfy Heba , Hussein Amr Nermine , E. Flueck Christa , Globa Evgenia , Zelinska Natalia , Guran Tulay , Yavas Abali Zehra , Guven Ayla , E. Hannema Sabine , Iotova Violeta , Konrad Daniel , P. Krone Nils , Lenherr-Taube Nina , Leka-Emiris Sofia , Vlachopapadopoulou Elpis , R. Lichiardopol Corina , Marginean Otilia , L. Markosyan Renata , Niedziela Marek , Banaszak-Ziemska Magdalena , Neumann Uta , Phan-Hug Franziska , Polyrazoglu Sukran , Probst Ursina , Randell Tabitha , Russo Gianni , Salerno Mariacarolina , Shnorhavorian Margarett , van Eck Judith , Vieites Ana , Wasniewska Malgorzata , F Ahmed Syed

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...

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hrp0098rfc5.6 | Growth and Syndromes | ESPE2024

Pubertal induction in girls with Turner syndrome – retrospective data from the International TS registry

Gawlik-Starzyk Aneta , Matthews Debbie , Błaszczyk Ewa , Brain Caroline , Öhman Kriström Berit , M McGlacken-Byrne Sinéad , Sas Theo , van der Velden Janielle , Verlinde Franciska , Wasniewska Malgorzata , Smith Arlen , Gawlik Jakub , Atapattu Navoda , Bertelloni Silvano , Binder Gerhard , Cheetham Tim , L Claahsen-van der Grinten Heidi , M O'Connell Susan , Cools Martine , Dirlewanger Mirjam , Elsedfy Heba , A Baky Fahmy Mohamed , Fica Simona , E. Flück Christa , F Gevers Evelien , Globa Evgenia , Guazzarott Laura , Guven Ayla , E. Hannema Sabine , Herrmann Gloria , Howard Sasha , Iotova Violeta , Januś Dominika , Konrad Daniel , Krone Nils , Kyrilli Aglaia , Leka-Emiri Sofia , Marginean Otilia , Markosyan Renata , Niedziela Marek , Nordenstrom Anna , Obara - Moszynska Monika , Poyrazoglu Sukran , Probst Ursina , Rohayem Julia , Russo Gianni , Šandrk Beslać Marija , Schwitzgebel Valerie , Nimali Seneviratne Sumudu , Shenoy Savitha , Starzyk Jerzy , Tourlamain Gilles , Lenherr Taube Nina , Ucar Ahmet , Utari Agustini , Wędrychowicz Anna , Wojtyś Joanna , Zainaba Mohamed , Bryce Jillian , Chen Minglu , Koley Sanhita , Alimussina Malika , N.S. Matthews John , Faisal Ahmed Syed , D.C. Donaldson Malcolm

Background: Current guidelines for girls with gonadal dysgenesis due to Turner Syndrome (TS) recommend initiating estrogen therapy at 11-12 years of age, using 'natural' 17-β estradiol. However, there is scant evidence regarding the optimal modality of induction, particularly concerning whether oral or transdermal routes are more effective or acceptable.Aim: To retrospectively evaluate differences in puber...

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hrp0098fc4.1 | Adrenals and HPA Axis 1 | ESPE2024

Real world data analysis of contemporary therapy and its association to anthropometric outcomes in 1500 patients with congenital adrenal hyperplasia (CAH).

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

Introduction and Objective: Previous evidence from the I-CAH registry showed wide variation of glucocorticoid (GC) replacement between different countries and centres. We wanted to explore the impact of different GC doses on height and weight in children and young people with CAH.Methods: We analysed data from patients under 18 years with 21-hydroxylase deficiency recorded in the I-CAH registry from assessments since 200...

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ESPE Abstracts

Gonadal function and outcome in 46, XX testicular/ovotesticular DSD – first round collection data from the I-DSD Registry study.

Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice

Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia (CAH): Changes During The Period 2019-2022 In I-CAH

Pubertal induction in girls with Turner syndrome – retrospective data from the International TS registry

Real world data analysis of contemporary therapy and its association to anthropometric outcomes in 1500 patients with congenital adrenal hyperplasia (CAH).

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