Abstract Search

hrp0098p2-395 | Late Breaking | ESPE2024

Development of Age-Adapted Modules for Standardized Clinical Data Collection in individuals with Klinefelter Syndrome

Surau Joline , Grasemann Corinna , H. Gravholt Claus , Breen Chris , Aksglaede Lise , Alimussina Malika , Bauer Jens , Boettcher Claudia , Bryce Jillian , Carlomagno Francesco , E. Hannema Sabine , Lucas-Herald Angela , Isidori Andrea , Mazen Inas , Nordenstroem Anna , Faisal Ahmed S

Klinefelter Syndrome (KS) affects an estimated 1 in 500-750 male births, yet over 50% of cases remain undiagnosed. Initially characterized as a condition with post-pubertal gonadal failure, KS is now recognized to involve numerous associated signs, symptoms, and comorbidities, underscoring the need for a multidisciplinary care approach. However, the clinical care of people with KS is variable and is rarely supported by good evidence. To better understand the natural history an...

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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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ESPE Abstracts

Development of Age-Adapted Modules for Standardized Clinical Data Collection in individuals with Klinefelter Syndrome

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

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