hrp0084p2-312 | DSD | ESPE2015

Birth Weight in Different Aetiologies of Disorder of Sex Development

Poyrazoglu Sukran , Darendeliler Feyza , Ahmed Syed Faisal , Bryce Jillian , Jiang Jipu , Rodie Martina , Hiort Olaf , Hannema Sabine E , Bertelloni Silvano , Lisa Lidka , Guran Tulay , Hughes Ieuan , Cools Martine , Chatelain Pierre , Claahsen-van der Grinten Hedi L , Nordenstrom Anna , Holterhus Paul-Martin , Kohler Birgit , Niedziela Marek , Krone Nils

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

hrp0094fc1.5 | Adrenal | ESPE2021

Outcome of COVID-19 infections in patients with adrenal insufficiency

Nowotny Hanna , Bryce Jillian , Giordano Roberta , Baronio Federico , Chifu Irina , Cools Martine , van den Akker Erica L.T. , Falhammar Henrik , Appelman-Dijkstra Natasha , Persani Luca , Beccuti Guglielmo , Grozinsky-Glasberg Simona , Pereira Alberto M. , Husebye Eystein , Hahner Stefanie , Ahmed S. Faisal , Reisch Nicole

Background: Clinical outcome data of patients with adrenal insufficiency, who were affected by COVID-19, have been collected as a common initiative by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project. Methods: This Webropol-based questionnaire included a total of 32 questions collecting quantitative and qualitative data. Of the 19 medical centres out ...

hrp0094fc5.5 | Sex Development and Gender Incongruence | ESPE2021

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Grijp Celien , Tavernier Simon , Neirinck Jana , Abdulhadi-Atwan Maha , Van De Velde Julie , Baetens Dorien , Verdin Hannah , Morbee Lieve , De Baere Elfride , Zangen David , Bonroy Carolien , Van Bever Yolande , Bruggenwirth Hennie , Vermont Clementien , Hannema Sabine , De Rijke Yolanda , Schelstraete Petra , Haerynck Filomeen , Cools Martine ,

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...

hrp0094p1-48 | Sex Endocrinology and Gonads A | ESPE2021

Gonadal Outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers Lidewij S , Bruggenwirth Hennie T , van Bever Yolande , Hersmus Remko , Bryce Jilian , Ahmed S Faisal , Lucas-Herald Angela K , Baronio Federico , Cools Martine , Ellaithi Mona , Globa Evgenia , Guran Tulay , Tosun Busra Gurpinar , Hiort Olaf , Holterhus Paul-Martin , McElreavey Ken , Niedziela Marek , Stancampiano Marianna Rita , Wolffenbuttel Katja P , Oosterhuis J Wolter , Looijenga Leendert HJ , Hannema Sabine E ,

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...

hrp0097p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

RXFP2: validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Syryn Hannes , Verdin Hannah , Van de Velde Julie , Peelman Frank , Becker Marianne , Brachet Cécile , den Brinker Marieke , Depoorter Sylvia , Fudvoye Julie , Klink Daniel , Lysy Philippe , Massa Guy , Reynaert Nele , Rochtus Anne , Staels Willem , Van Loocke Marlies , Sinclair Andrew , Ayers Katie , Bathgate Ross , Cools Martine , De Baere Elfride

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

hrp0097p1-365 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Tack Lloyd , Brachet Cécile , Beauloye Veronique , Heinrichs Claudine , Boros Emese , De Waele Kathleen , van der Straaten Saskia , Van Aken Sara , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , Logghe Karl , Van Loocke Marlies , Massa Guy , Van de Vijver Koen , Syryn Hannes , Van De Velde Julie , De Baere Elfride , Verdin Hannah , Cools Martine

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

hrp0098p2-173 | Growth and Syndromes | ESPE2024

Prevalence and changes in genetic and clinical abnormalities in growth hormone-treated girls with Turner syndrome: a study from the Belgian-Luxembourgish growth hormone registry (BELGROW)

Boutsen Laure , Thomas Muriel , De Schepper Jean , Verlinde Fransiska , Beckers Dominique , Heinrichs Claudine , Casteels Kristina , Cools Martine , Dotremont Hilde , Brachet Cécile , Parent Anne-Simone , Lambert Sophie , Massa Guy , Klink Daniel , Logghe Karl , Depoorter Sylvia , Fudvoye Julie , Reynaert Nele , Becker Marianne , Lysy Philippe

Background: Since the initial clinical description of Turner Syndrome (TS), there have been notable changes in the genotypic and phenotypic presentation of the disease. Our aimis to provide an overview of the current genetic and clinical characteristics of a large Belgian cohort of girls with TS, and the evolution over the last 3 decades.Methods: We therefore analyzed the genetic and clinical data of growth hormone(GH)-t...

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 ...

hrp0092p1-10 | Adrenals and HPA Axis | ESPE2019

Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia – Insights from the I-CAH Registry

Bacila Irina-Alexandra , Blankenstein Oliver , Neumann Uta , van der Grinten Hedi L Claahsen , Krone Ruth , Acerini Carlo , Bachega Tania SS , Miranda Mirella C , Mendonca Berenice , Birkebaek Niels H , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Tomlinson Jeremy , Elsedfy Heba , Balsamo Antonio , Hannema Sabine , Higham Claire , Atapattu Navoda , Lichiardopol Corina , Guran Tulay , Abali Zehra , Mohnike Klaus , Finken Martijn JJ , Vieites Ana , Darendeliler Feyza , Guven Ayla , Korbonits Marta , de Vrie Liat , Costa Eduardo , Einaudi Silvia , van der Kamp Hetty , Iotova Violeta , Ross Richard , Faisal Ahmed S , Krone Nils P

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...