Abstract Search

ea0016s20.3 | Translational highlights | ECE2008

Monoallelic mutations in DUOXA2 are associated with mild permanent hypothyroidism and goiter

Ventura Paula , Azcona Cristina , Clemente Maria , Albisu Marian , Audi Laura , Carrascosa Antonio , Visser Theo , Moreno Jose C

Generation of H2O2 at the apical membrane of thyroid cells is essential for iodination of thyroglobulin. Dual oxidase 2 (DUOX2) is the catalytic core of the thyroidal H2O2 generator, and its deficiency leads to congenital hypothyroidism (CH) in humans and mice. The Dual oxidase maturation factor 2 (DUOXA2) is a recently identified endoplasmic reticulum (ER)-resident protein required for expression of DUOX2 activity.<p class="abst...

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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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ea0095oc8.4 | Oral Communications 8 | BSPED2023

Association of newborn screening of congenital adrenal hyperplasia with outcomes in the first 90 days of life: a multi-centre I-CAH registry 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 Fluck Christa , Metzger Sara , E Krone Ruth , German Alina , Baronio Federico , Atapattu Navoda , N Seneviratne Sumudu , Cools Martine , Mieke Thery , 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 , P.H. Adriaansen Bas , Bachega Tania , C Miranda Mirela , 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 , Davies Justin H

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...

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Endocrine Abstracts

Monoallelic mutations in DUOXA2 are associated with mild permanent hypothyroidism and goiter

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

Association of newborn screening of congenital adrenal hyperplasia with outcomes in the first 90 days of life: a multi-centre I-CAH registry analysis of contemporary practice

BiosciAbstracts