Searchable abstracts of presentations at key conferences in endocrinology
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European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

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The 24th European Congress of Endocrinology (ECE) and the Italian Society of Endocrinology look forward to welcoming you to Milan. ECE 2022 returns for a four day, six parallel session festival of endocrine science. You can join us In person in Milan, Italy OR Live @Home online!

Oral Communications

Oral Communications 12: Reproductive and Developmental Endocrinology

ea0081oc12.1 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the use of a core registry for collecting common data elements and clinician and patient reported outcomes

Priego Zurita Ana Luisa , Ali Salma Rashid , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arelene , Sumnik Zdenek , Taruscio Domenica , Visser Edward , Appelman-Dijkstra Natasha , Ahmed Faisal

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2019 and December 2021.<p class...

ea0081oc12.2 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Genetic cause of POI are common, the case for next generation sequencing?

Vogt Elinor , Bratland Eirik , Husebye Eystein Sverre , Bjornsdottir Sigridur , Berland Siren , Oksnes Marianne

Context: Premature ovarian insufficiency (POI) affects approximately 1-3% of women. Clinical presentations are heterogeneous and the underlying etiologies remain unknown in the majority of cases.Objective/aim: To characterize presentations of POI and to evaluate the distribution of underlying etiologies in women with newly diagnosed POI of unknown cause.Design: Prospective study of 100 women with newly diagnosed POI. Autoimmunity w...

ea0081oc12.3 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Defective Notch1/Jag1 signaling impacts GnRH development and contributes to hypogonadotropic hypogonadism

Ludovica Cotellessa , Federica Marelli , Duminuco Paolo , Lucia Bartoloni , Michela Adamo , Pitteloud Nelly , Persani Luca , Bonomi Marco , Giacobini Paolo , Valeria Vezzoli

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...

ea0081oc12.4 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Sex-chromosome dosage effects on circular RNA: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues

Bruun Johannsen Emma , Just Jesper , Viuff Mette , Fedder Jens , Skakkebaek Anne , Gravholt Claus H

Background: Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) present with a range of clinical features due to copy number aberrations of the X chromosome. The underlying genetics of these syndromes have revealed karyotype-dependent transcription and methylation patterns, and implicated genes that escape X chromosome inactivation (XCI). Alterations in the expression pattern of non-coding RNAs has previously been reported in TS and KS, yet the landscape of circul...

ea0081oc12.5 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Luteinizing hormone (LH)- and choriogonadotropin (hCG)-induced internalization of the receptor (LHCGR) is responsible for hormone-specific signaling

Paradiso Elia , Lazzaretti Clara , D'Alessandro Sara , Sperduti Samantha , Roy Neena , Mascolo Elisa , Baschieri Lara , Anzivino Claudia , Simoni Manuela , Casarini Livio

Introduction: Luteinizing hormone (LH) and human choriogonadotropin (hCG) regulate reproduction through binding the same receptor (LHCGR). They act via activation of G protein- and β-arrestin-dependent signals, resulting in ligand-specific pattern of signaling cascades and LHCGR internalization into endosomal vesicles. Previous studies differentiated the action of these two hormones in LH-related proliferative signals and hCG-related steroidogenic signals.Aim. We compared...

ea0081oc12.6 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Analysis of cardiovascular comorbidities and events in a cohort of transgender people during GAHT

Marinelli Lorenzo , Camandona Andrea , Crespi Chiara Michela , Magistri Domiziana , Ghigo Ezio , Motta Giovanna

Introduction: According to the DSM-5, gender dysphoria (GD) is defined as a distress that results from an incongruence between one’s sex assigned at birth and one’s gender identity. This condition may require gender-affirming hormone therapy (GAHT), in order to reduce distress. GAHT, however, is not free from side effects and it could increase the risk of onset of new pathological conditions.Aim of the study: To evaluate cardiovascular comorbid...