BSPED2025 Oral Communications Endocrine Oral Communications 4 (8 abstracts)
Pubertal induction in girls with turner syndrome: updated retrospective data from the international TS registry
Sinéad M McGlacken-Byrne 1 , Caroline Brain 2 , Debbie Matthews 3 , Ewa Błaszczyk 4 , Berit Öhman Kriström 5 , Theo Sas 6 , Janielle van der Velden 7 , Franciska Verlinde 8 , Malgorzata Wasniewska 9 , Arlen Smith 10 , Jakub Gawlik 11 , Navoda Atapattu 12 , Silvano Bertelloni 13 , Gerhard Binder 14 , Tim Cheetham 15 , Hedi L Claahsen-van der Grinten 16 , Susan M O’Connell 17 , Martine Cools 18 , Mirjam Dirlewanger 19 , Heba Elsedfy 20 , Mohamed A Baky Fahmy 21 , Simona Fica 22 , Christa E. Flück 23 , Evelien F Gevers 24 , Evgenia Globa 25 , Laura Guazzarotti 26 , Ayla Guven 27 , Sabine E. Hannema 28 , Gloria Herrmann 29 , Sasha Howard 24 , Violeta Iotova 30 , Domenika Januś 31 , Daniel Konrad 32 , Nils Krone 33 , Aglaia Kyrilli 34 , Sofia Leka-Emiri 35 , Otilia Marginean 36 , Renata Markosyan 37 , Marek Niedziela 38 , Anna Nordenstrom 39 , Monika Obara-Moszynska 38 , Sukran Poyrazoglu 40 , Ursina Probst 41 , Julia Rohayem 42 , Gianni Russo 43 , Marija Šandrk Beslać 44 , Valerie Schwitzgebel 19 , Sumudu Nimali Seneviratne 45 , Savitha Shenoy 46 , Jerzy Starzyk 47 , Gilles Tourlemain 48,49 , Nina Lenherr Taube 50 , Ahmet Ucar 51 , Agustini Utari 52 , Anna Wędrychowicz 53 , Joanna Wojtyś 54 , Zainaba Mohamed 55 , Jillian Bryce 56 , Minglu Chen 56 , Sanhita Koley 56 , Malika Alimussina 56 , John N.S. Matthews 57 , Syed Faisal Ahmed 58 , Malcolm D.C. Donaldson 59 & Aneta Gawlik-Starzyk 4
1Genetics and Genomic Medicine Research and Teaching Department, University College London (UCL) Great Ormond Street Institute of Child Health, UCL, London, United Kingdom; 2Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom; 3Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; 4Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland; 5Institution of Clinical Science, Pediatrics, Umeå University, Umeå, Sweden; 6Department of Pediatric Endocrinology, Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, Netherlands; 7Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, Netherlands; 8Belgian Study Group of Paediatric Endocrinology and Diabetes, Brussels, Belgium; 9Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; 10Executive Officer Turner Syndrome Support Society, Clydebank Business Park, Glasgow, United Kingdom; 11University Hospital, Kraków, Poland; 12Endocrinology and Diabetes Unit, Lady Ridgeway Hospital, Colombo, Sri Lanka; 13Division of Pediatrics, Department of Obstretics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy; 14University Children’s Hospital, Pediatric Endocrinology, University Tübingen, Tübingen, Germany; 15Department of Paediatric Endocrinology, Great North Children’s Hospital, Newcastle Upon Tyne, United Kingdom; 16Amalia Children’s Hospital, Radboud University Medical Centre, Department of Paediatrics, Division of Paediatric Endocrinology, Nijmegen, Netherlands; 17Children’s Health Ireland, Dublin, Ireland; 18Department of Internal Medicine and Paediatrics, Ghent University and Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium; 19Pediatric Enocrine and Diabetes Unit, Department of Pediatrics, Gynecology and Obstetrics, University Hospital of Geneva, Geneva, Switzerland; 20Pediatrics Department, Ain Shams University, Cairo, Egypt; 21Al-Azhar University, Cairo, Egypt; 22Endocrinology, Diabetes, Nutrition and Metabolic Diseases Department, "Elias" Emergency University Hospital, Bucharest, Romania; 23Pediatric Endocrinology, Diabetology and Metabolism of Department of Pediatrics and Department of BioMedical Research, Bern University Hospital, University of Bern, Bern, Switzerland; 24Department of Paediatric Endocrinology, Barts Health NHS Trust and Centre for Endocrinology, Queen Mary University of London, London, United Kingdom; 25Ukrainian Research Center of Endocrine Surgery Endocrine Organs and Tissue Transplantation, Kyiv, Ukraine; 26Pediatric Endocrinology Unit, University of Padova, Padova, Italy; 27Baskent University Medical Faculty, Departement of Pediatric Endocrinology, Istanbul Hospital, Istanbul, Turkey; 28Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Paediatric Endocrinology, Amsterdam, Netherlands; 29University Medical Centre, Ulm, Germany; 30Department of Pediatrics, Medical University, Varna, Bulgaria; 31Department of Pediatric Endocrinology, University Children Hospital in Krakow, Jagiellonian University, Kraków, Poland; 32Department of Paediatric Endocrinology and Diabetology, University Children’s Hospital Zurich, University of Zurich, Zurich, Switzerland; 33Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom; 34Department of Endocrinology, Hopital Erasme Bruxelles, Brussels, United Kingdom; 35Department of Endocrinology-Growth and Development, P&A Kyriakou Children’s Hospital, Athens, Greece; 36Department XI Pediatrics, Discipline I Pediatrics, ’Victor Babeş’ University of Medicine and Pharmacy of Timisoara, Timisoara, Romania; 37Yerevan State Medical University Endocrinology Clinic, Yerevan, Armenia; 38Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznań, Poland; 39Pediatric Endocrinology, Karolinska Institutet, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden; 40Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; 41Pediatric Department, Kantonsspital Winterthur, Winterthur, Switzerland; 42Department of Pediatric Endocrinology and Diabetology, Children’s Hospital of Eastern Switzerland, St. Gallen, Switzerland; 43IRCCS Ospedale San Raffaele, Milano, Italy; 44Department of Pediatric Endocrinology and Diabetes, Pediatric Clinic, University Clinical Hospital Mostar, Mostar, Bosnia and Herzegovina; 45Faculty of Medicine, University of Colombo, Colombo, Sri Lanka; 46Department of Paediatric Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom; 47Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Poland; 48Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium; 49Department of Paediatrics, AZ Groeninge, Kortrijk, Belgium; 50Department of Pediatric Endocrinology and Diabetology, University Children’s Hospital, University of Zurich, Zurich, Switzerland; 51University of Health Sciences, Şişli Hamidiye Etfal Health Practices and Research Centre, Division of Pediatric Endocrinology, Istanbul, Turkey; 52Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Diponegoro University, Semarang, Indonesia; 5331Department of Pediatric Endocrinology, University Children Hospital in Krakow, Jagiellonian University, Kraków, Poland; 54Department of Pediatric Endocrinology, University Children Hospital, Kraków, Poland; 55Department of Paediatric Endocrinology, Birmingham Women’s and Children’s Hospital, Birmingham, United Kingdom; 56Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, United Kingdom; 57Biostatistics Research Group, Population Health Sciences Institute, Newcastle University, Newcastle Upon Tyne, United Kingdom; 58Samson Gemmell Chair of Child Health, University of Glasgow, Glasgow, United Kingdom; 59Glasgow University School of Medicine, Glasgow, United Kingdom
Background: Current guidelines for girls with gonadal dysgenesis due to Turner Syndrome (TS) recommend initiating estrogen therapy at 11-12 years of age, using ’natural’ 17-β estradiol. However, there is scant evidence regarding the optimal modality of induction, particularly concerning whether oral or transdermal routes are more effective or acceptable.
Aim: To retrospectively evaluate differences in puberty induction approaches and outcomes using anonymised data extracted from the I-TS module of https://sdmregistries.org/.
Methods & Patients: 50 centers from 21 countries have responded to our invitations to enter anonymised retrospective data on pubertal induction in their patients on the I-TS platform (reference number I-TS/202311_AG).
Results: Clinical and laboratory data of 834 girls with TS and unique ID were available for descriptive analysis. Karyotype distributions were 40.0% (45,X); 12% (45,X/46,XX); 11% (45,X/46,XY); 8% (45,X/46,XiXq); 3% (45,X/47,XXX); 3% (45,X/46,XrX); 23% (other karyotypes). The mean/median age at initial contact with the center was 8.27 years. Data related to pharmacology were available for 307 (37%) patients in 16 countries. Data concerning the initiation of pharmacological intervention for puberty and growth induction are presented in the table. Oral and transdermal natural estradiol were utilized by 72 (34%) and 79 (37.3%) patients, respectively. The synthetic preparation ethinylestradiol was used in 14 (6.6%) patients.
| Medicine | Number | Median age at start [years] | Interquartile range |
| Growth hormone | 264 | 9.3 | 5.1-11.5 |
| Oxandrolone | 8 | 13.0 | 11.9-14.1 |
| Estrogen(s)-all | 276 | 13.3 | 12.2-14.7 |
| Progesterone | 51 | 15.2 | 14.5-16.3 |
Conclusion: For paediatric rare disease, collection of anonymised retrospective multicentre data enables analysis of large international patient cohorts. Here, we use these data to describe different treatment protocols used in Turner syndrome. Natural oestradiol continues to be the primary choice for puberty induction in most centres, although initiation was delayed compared to current standards. However, reporting of progesterone usage was low. The collection of retrospective data is now complete and the final/updated analysis will be shared at BSPED. The final results will help to inform the prospective study of pubertal induction in TS which commences in Autumn 2025.
Volume 111
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Endocrine Abstracts
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