11th I-DSD Symposium 2024 Programme

26-28th June 2024, Stockholm, Sweden, Karolinska University Hospitals

All times in CEST

11th I-DSD Symposium Programme

Venue: Sune Bergström Aula, Karolinska University Hospital, Stockholm

Registration & Coffee from 11:30 – Sune Bergström Aula

13:00: Opening

Session 1 – Setting the Scene (13:00-13:35) Chair: Anna Nordenström, Stockholm, Sweden

13:00 – 13:05 Introduction – Anna Nordenström, Stockholm, Sweden 13:05 – 13:20 Lived experience – Chris Breen, UK 13:20 – 13:35 Patient support & advocacy – Giorgio Dal Maso, Italy

Session 2 – Update on I-DSD Activities (13:40-14:10) Chair: Christa Flück, Bern, Switzerland

Recent developments – Faisal Ahmed, Glasgow, UK Research & data access – Jeremy Tomlinson, Oxford, UK Care quality improvement – Justin Davies, Southampton, UK Learning & training – Sabine Hannema, Amsterdam, Netherlands 5 mins each and then Discussion

Oral Communications 1 (OC1) (14:20-15:30) Chairs: Stefan Wudy, Giessen, Germany & Margarett Shnorhavorian, Seattle, USA 14:20 – 14:30 OC1.1 A tiered approach to exome sequencing analysis in Primary Ovarian Insufficiency: results from a large, early-onset cohort – Sinead McGlacken-Byrne, London, UK 14:30 – 14:40 OC1.2 Increased blood pressure SDS and oxidative stress in boys with early onset hypogonadism – Angela Lucas-Herald, Glasgow, UK 14:40 – 14:50 OC1.3 Health related quality of life in children, adolescents and young adults with DSD and their relatives after participating in a modular DSD-specific education programme (Empower-DSD) – Uta Neumann, Berlin, Germany 14:50 – 15:00 OC1.4 Turner Syndrome: genomic unity and inflammation across karyotypes – Claus Gravholt, Aarhus, Denmark 15:00 – 15:10 OC1.5 Gonadectomy in individuals with DSD – A prospective I-DSD registry study – Michele O’Connell, Melbourne, Australia 15:10 – 15:20 OC1.6 “There was so much shame and embarrassment wrapped up in my decision making”: The experience of making decisions for adolescents and young adults with DSD – Kristina Suorsa-Johnson, Salt Lake City, Utah, USA 15:20-15:30 OC1.7 Long term outcomes in 21 Hydroxylase deficiency CAH: patient identification and initial results from a single UK centre – Joseph McElvaney, Glasgow, UK

Coffee Break 15:30 – 16:00

Session 3 – Androgen Insensitivity Syndrome (16:00-17:30) Chair: Olaf Hiort, Luebeck, Germany

16:00 – 16:25 The epidemiology and genetics of AIS – Rafael Batista, Sao Paulo, Brazil 16:25 – 16:50 Looking beyond AR – Nadine Hornig, Kiel, Germany 16:50 – 17:15 Long-term outcomes in women with AIS – Giovanna Mantovani, Milan, Italy 17:15 – 17:30 Discussion

Free Evening

Symposium Day 2 (Thursday, June 27^th 2024) (08:15 – 17:30)

Session 4 – Real World Solutions For Supporting Patients & Health Care Services  (08:15-09:45) Chair: Erin Sharwood, Brisbane, Australia

08:15 – 08:40 Supporting and developing the workforce – Arianne Dessens, Rotterdam, Netherlands 08:40 – 09:05 Shared decision making in clinical practice – David Sandberg, Ann Arbor, USA 09:05 – 09:30 Supporting patients and people in resource restricted settings – Annastasia Ediati, Jakarta, Indonesia 09:30 – 09:45 Discussion

Oral communications 2 (OC2) (09:45-11:05) Chairs: Claus Gravholt, Aarhus, Denmark & Angela Lucas-Herald, Glasgow, UK 09:45 – 09:55 OC2.1 Towards an experimental proof of oligogenicity explaining a severe 46,XY DSD phenotype associated with heterozygote NR5A1/SF-1 variation – Rawda Naamneh-Elzenaty, Bern, Switzerland 09:55 – 10:05 OC2.2 Evaluation of quality of care for people with DSD – results of an annual benchmarking of DSD centres in Germany – Ulla Doehnert, Luebeck, Germany 10:05 – 10:15 OC2.3 Family planning and preimplantation testing: family experiences in CAH – Kristen Neville, Sydney, Australia 10:15 – 10:25 OC2.4 A conserved NR5A1-responsive enhancer regulates SRY in human testis-determination: A new cause of 46,XY DSD – Anu Bashamboo, Paris, France 10:25 – 10:35 OC2.5 SGPL1 deficiency, a cause of 46XY DSD and adrenal insufficiency, impairs lipid metabolism and steroidogenesis in Leydig cells – Ruth Ming Wai Kwong, London, UK 10:35 – 10:45 OC2.6 Validation of a new short parent reported outcomes (PRO) questionnaire for boys with a condition affecting sex development (CSD) – PRO-CSD short – Xanthippi Tseretopoulou, Glasgow, UK 10:45 – 10:55 OC2.7 Long-read sequencing resolves CYP21A2 alleles in CAH – Emmanuèle Délot, Washington DC, USA 10:55 – 11:05 OC2.8 High throughput screening of VSD candidate genes with the help of powerful model Drosophila melanogaster – Isabel von der Decken, Freiburg, Germany

Coffee Break 11:05 – 11-30  – Venue

Session 5 – Data Driven Approach To DSD Care  (11:30-13:00) Chair: Justin Davies, Southampton, UK

11:30 – 12:00 Evidence driven care in CAH – Nils Krone, Sheffield, UK 12:00 – 12:30 Advances in improving the genetic diagnosis in DSD – Eric Vilain, Irvine, CA, USA 12:30 – 13:00 The use of metabolomics for personalised care in steroid deficient states – Stefan Wudy, Giessen, Germany 12:50 – 13:00 Discussion

Lunch  13:00-14:00 – Venue

Session 6 – Debate (14:00–15:15) ‘This house believes that the clinical need for a genetic diagnosis in DSD has been exaggerated’   Chair: Anna Nordenström, Stockholm, Sweden

14:00 – 14:05 Introduction and poll – Anna Nordenström 14:05 – 14:25 For – Christa Flück, Bern, Switzerland 14:25 – 14:45 Against – David Zangen, Jerusalem, Israel 14:45 – 15:15 Discussion & poll

Coffee and Posters 15:15 – 17:30 (Ground floor)

15:30 – 17:30 Guided poster rounds (List of Posters) – Moderators listed below

19:30 – Social Evening

Symposium Day 3 (Friday June 28th 2024) (09:00 – 13:00)

Session 7 – Delayed Genitoplasty & Its Implications (09.00–10.30) Chair: David Sandberg, Ann Arbor, USA

09.00 – 09.25 Surgical solutions – Gundela Holmdahl, Stockholm, Sweden 09.25 – 09.50 Psychosocial support- Anna Strandqvist, Stockholm, Sweden 09.50 – 10.15 Legal & ethical aspects – Martine de Vries, Leiden, the Netherlands 10.15 – 10.30 Discussion

Coffee Break 10.30 – 11.15

Session 8 – The Ovaries (11:15–12:45) Chair: Giovanna Mantovani, Milan, Italy

11.15 – 11.40 Ovarian development – Vince Harley, Melbourne, Australia 11.40 – 12:05 The genetics and outcome of ovarian insufficiency – Anne Bachelot, Paris, France 12:05 – 12.30 Assisted reproduction in women – Kenny Rodriguez-Wallberg, Stockholm, Sweden 12:30 – 12:45 Discussion

12:45 – Close (Faisal Ahmed)

Presentation Prizes

There will be a number of prizes awarded for the best presentations

Oral Communications will be judged by the chairs of the Oral Communications session

Poster Communications have been allocated to the moderators listed below. Presenters should stand beside their poster(s) during the first half of the guided poster round

Anna Strandqvist: PO3 PO13 PO19 PO39 PO44 PO49 PO82
Annastasia Ediati: PO1 PO5 PO18 PO27 PO32 PO60 PO91
Claus Gravholt: PO41 PO42 PO51 PO73 PO80 PO86 PO89
David Sandberg: PO11 PO12 PO24 PO28 PO29 PO35 PO64
Giovanna Mantovani: PO8 PO25 PO52 PO62 PO69 PO79 PO84
Gundela Holmdahl: PO34 PO38 PO46 PO53 PO61 PO65 PO72
Jeremy Tomlinson: PO10 PO22 PO26 PO33 PO50 PO59 PO67
Justin Davies: PO37 PO54 PO56 PO66 PO76 PO78 PO83
Michele O’Connell: PO7 PO15 PO43 PO47 PO58 PO75 PO90
Nils Krone: PO9 PO17 PO30 PO36 PO63 PO74 PO81
Stefan Wudy: PO2 PO6 PO23 PO48 PO57 PO77 PO88
Uta Neumann: PO4 PO14 PO31 PO40 PO55 PO68 PO87

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