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Endocrine Abstracts

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ea0063gp63 | Reproductive Axis | ECE2019

A KISS1R gene variant in a pedigree with maternally inherited precocious puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Toromanović Alma , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: The genetic causes of central precocious puberty (CPP) of clinical value identified to date are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Given that CPP is typically maternally inherited, however, the molecular genetic background in the majority of CPP cases remains unknown. Using candidate gene approach focused on genes regulating GnRH secretion and action so far exceedingly rare patients with CPP ...
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ea0094p261 | Reproductive Endocrinology | SFEBES2023

Gonadectomy in people with a difference of sex development: Initial data from an I-DSD registry prospective quality improvement study

Lucas-Herald Angela , Bryce Jillian , H Davies Justin , Shnorhavorian Margarett , Demir Korcan , de Vries Liat , Elsfedy Heba , Globa Evgenia , Grinspon Romina , Guerra-Junior Gil , Janus Dominika , Faisal Ahmed S , O'Connell Michele

Introduction: There is some variation in the practice of gonadectomy for individuals with Differences of Sex Development (DSD) worldwide. This quality improvement project aims to undertake continued surveillance of the occurrence of gonadectomy in suspected or confirmed cases of DSD.Methods: Participating centres from the International-DSD Registry are sent a monthly email asking if a gonadectomy has been performed. A se...
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ea0063gp197 | Adrenal and Neuroendocrine - Clinical | ECE2019

Optimizing mineralocorticoid replacement therapy in patients with congenital adrenal hyperplasia and Addison’s disease

Pofi Riccardo , Prete Alessandro , Thornton-Jones Vivien , Bryce Jilian , Ali Salma , Ahmed Faisal , Koehler Birgit , Balsamo Antonio , Acerini Carlo , Cannuccia Amalia , Guven Ayla , Guran Tulay , Darendeliler Feyza , Higham Claire , Bonfig Walter , De Vries Liat , Mendonca Berenice B , Iotova Violeta , Krone Nils P , Krone Ruth , Lenzi Andrea , Arlt Wiebke , Ross Richard , Isidori Andrea M , Tomlinson Jeremy W

Background: Adrenal insufficiency (AI) results from deficient production/action of glucocorticoids (GCs), with or without deficiency of mineralocorticoids (MC) and adrenal androgens. GC treatment is essential but some patient needs MC therapy to allow sodium(Na+) retention, potassium(K+) excretion and to maintain normal plasma volume and blood pressure. Much attention has focused on optimization of GC replacement but no consensus exists for optimization o...
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ea0090oc5.2 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

The association between hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia

Schroder Mariska , Neacşu Mihaela , Sweep Fred , Span Paul N , Adriaansen Bas , van Herwaarden Antonius , Bryce Jillian , Ahmed Faisal , Ali Salma , Aparecida Sartori Sanchez Bachega Tania , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Clemente Maria , Cools Martine , de Bruin Christiaan , de Vries Liat , Elsedfy Heba , Globa Evgenia , Guran Tulay , Guven Ayla , Amr Nermine Hussein , Januś Dominika , Konrad Daniel , Markosyan Renata , Miranda Mirela , Poyrazoğlu Şukran , Rees Aled , Salerno Mariacarolina , Stancampiano Marianna Rita , Vieitis Ana , Abali Zehra Yavas , - van der Grinten Hedi Claahsen

Background: Testicular Adrenal Rest Tumors (TART) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) are benign lesions causing testicular damage and infertility. We hypothesize that high ACTH exposure due to poor hormonal control during early life is promoting development of TART later in life.Objective: This study aims to examine the relation between early CAH diagnosis and cons...
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ea0094p16 | Adrenal and Cardiovascular | SFEBES2023

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 , Davies Justin H. , Thomas Tessy , de Vries Liat , Elsedfy Heba , H Amr Nermine , E Flueck Christa , Globa Evgenia , Zelinska Natalia , Guran Tulay , Yavas Abali Zehra , Guven Ayla , E Hannema Sabine , Iotova Violeta , Konrad Daniel , Lenherr-Taube Nina , P Krone Nils , Leka-Emiris Sofia , Vlachopapadopoulou Elpis , R Lichiardopol Corina , Marginean Otilia , L Markosyan Renata , Neumann Uta , Niedzela Marek , Phan-Hug Franziska , Poyrazoglu Sukran , Probst Ursina , Randell Tabitha , Russo Gianni , Carolina Salerno Maria , Shnorhavorian Margarett , van Eck Judith , Vieites Ana , Wasniewska Malgorzata , Faisal 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 compared t...
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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...
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ea0095p86 | Adrenal 2 | BSPED2023

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

Tseretopoulou Xanthippi , Ali Salma R , Bryce Jillian , Amin Nadia , Atapattu Navoda , Bachega Tania , Baronio Federico , Birkebaek Niels H , Bonfig Walter , Claahsen-Van der Grinten Hedi L , Cools Martine , de Sanctis Luisa , de Vries Liat , Elsedfy Heba , Flueck Christa E , Fu Antony , Guaragna-Filho Guilherme , Guran Tulay , Guven Ayla , Hannema Sabine E , Iotova Violeta , Konrad Daniel , Lenherr-Taube Nina , Korbonits Marta , Krone Nils P , Krone Ruth , Leka-Emiris Sofia , Lichiardopol Corina R , Luczay Andrea , Markosyan Renata L , 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 , Wasniewska Malgorzata G , Ahmed Faisal S

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 that included a total of 2478 patient years follow-up on 607 children from 44 centres were studied and their association to the results of a health care survey of these centres that enqui...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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