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60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

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The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Free Communications

Sex Development and Gonads

hrp0095fc6.1 | Sex Development and Gonads | ESPE2022

AMH levels in infancy and mid-childhood predict ovarian activity in adolescence: a longitudinal study of healthy girls

Bistrup Fischer Margit , Hagen Casper P. , Wohlfahrt-Veje Christine , Assens Maria , Busch Alexander S. , Tønnes Petersen Anette , Juul Anders , Main Katharina M.

Background: Anti-Müllerian hormone (AMH) is produced by granulosa cells in small follicles prior to gonadotropin dependent growth and serum levels reflect the number of small antral follicles. There are currently no longitudinal data of individual AMH levels from infancy to adolescence.Aim: To evaluate whether AMH in infancy and childhood is associated with AMH levels and ovarian morphology peripubertal and in adole...

hrp0095fc6.2 | Sex Development and Gonads | ESPE2022

Predictive value of ovarian reserve parameters for follicle detection in ovarian tissue cryopreservation

Gruber Noah , Zajicek Michal , Volodarsky-Perel Alexander , Shai Daniel , Dick-Necula Daniela , Raanani Hila , Karplus Gideon , Kassif Eran , Weisz Boaz , Meirow Dror

Introduction: In youth, primary ovarian insufficiency (POI) is due to genetic, autoimmune, iatrogenic, and idiopathic etiologies. When POI is diagnosed early with evidence of an ovarian reserve, fertility preservation can be offered. When the girl is premenarchal, the preferred fertility preservation method is ovarian tissue cryopreservation (OTC) containing primordial follicles. In the past, when OTC was performed in an unselected group of children and adoles...

hrp0095fc6.3 | Sex Development and Gonads | ESPE2022

Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD Registry-based study

Tadokoro-Cuccaro Rieko , Hughes Ieuan , Cools Martine , van de Vijver Koen , Bilharinho de Mendonça Berenice , Domenice Sorahia , L Batista Rafael , Thomazini Dallago Renata , Lisboa Gomes Nathalia , Costa Elaine F. , Maciel-Guerra Andréa T. , Guerra-Junior Gil , Gabriel Ribeiro de Andrade Juliana , Lucas-Herald Angela , Bryce Jillian , Hannema Sabine , Juul Anders , Globa Eugenia , MсElreavey Kenneth , Baronio Federico , Lopez Dacal Jimena , Darendeliler Feyza , Poyrazoglu Sukran , Kolesińska Zofia , Niedziela Marek , Claahsen – van der Grinten Hedi L. , van den Akke Erica L.T. , Herrmann Gloria , Atapattu Navoda , Jain Vandana , Sharma Rajni , Bettendorf Markus , Konrad Daniel , Martin Holterhus Paul , Fica Simona , Skae Mars , Russo Gianni , Rita Stancampiano Marianna , Gazdagh Gabriella , H Davies Justin , Mohamed Zainaba , Nimali Seneviratne Sumudu , Guran Tulay , GÜVEN Ayla , Wasniewska Malgorzata , Mladenov Vilhelm , Verkauskas Gilvydas , Markosyan Renata , Korbonits Marta , Faisal Ahmed S , Hiort Olaf , Wagner Isabel , Thankamony Ajay

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

hrp0095fc6.4 | Sex Development and Gonads | ESPE2022

FATE-1 expression during human fetal testis development, in prepubertal boys and in infertile men

Renault Lucie , Dijoud Frederique , Teoli Jordan , Lejeune Herve , Lalli Enzo , Doghman-Bouguerra Mabrouka , Plotton Ingrid

Recently, knowledge about the molecular genetic of male infertility has increased. However, in many cases, the etiology of infertility remains unknown. The Cancer/testis antigen: Fetal and Adult Testis Expressed (FATE-1), mainly expressed in human testis has been described two decades ago for his potential role in male infertility. FATE-1 is located on the X chromosome, contains a putative SF1 binding site and is co-expressed with SRY in human fetal testis. To date, only few d...

hrp0095fc6.5 | Sex Development and Gonads | ESPE2022

Phenotypes in a large international cohort of individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Martinez de Lapiscina Idoia , Tack Lloyd , Cools Martine , E Flück Christa , study group SF1next

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

hrp0095fc6.6 | Sex Development and Gonads | ESPE2022

Breast ultrasonography: How useful in the diagnosis of precocious puberty?

Helvacıoğlu Didem , Bıyıklı Erhan , Buğdaycı Onur , Turan Serap Demircioğlu , Güran Tülay , Bereket Abdullah

Context: Assessment of breast development by physical examination(PE) can be difficult especially in overweight girls and in early stages. We aimed to study ultrasonography(USG) on evaluation of breast tissue in girls with breast development< 8 years of age.Patients and Methods: In this prospective study, 125 girls (age 7.1&pm;1.5 years) with early breast development were evaluated by breast USG for ultrasonographic b...