ESPE2024 Rapid Free Communications Growth and Syndromes (6 abstracts)
Pubertal induction in girls with Turner syndrome – retrospective data from the International TS registry
Aneta Gawlik-Starzyk 1 , Debbie Matthews 2 , Ewa Błaszczyk 1 , Caroline Brain 3 , Berit Öhman Kriström 4 , Sinéad M McGlacken-Byrne 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 , Heidi 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 Guazzarott 26 , Ayla Guven 27 , Sabine E. Hannema 28 , Gloria Herrmann 29 , Sasha Howard 24 , Violeta Iotova 30 , Dominika 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 40 , Sukran Poyrazoglu 41 , Ursina Probst 42 , Julia Rohayem 43 , Gianni Russo 44 , Marija Šandrk Beslać 45 , Valerie Schwitzgebel 19 , Sumudu Nimali Seneviratne 46 , Savitha Shenoy 47 , Jerzy Starzyk 48 , Gilles Tourlamain 49 , Nina Lenherr Taube 50 , Ahmet Ucar 51 , Agustini Utari 52 , Anna Wędrychowicz 31 , Joanna Wojtyś 53 , Mohamed Zainaba 54 , Jillian Bryce 55 , Minglu Chen 56 , Sanhita Koley 57 , Malika Alimussina 58 , John N.S. Matthews 59 , Syed Faisal Ahmed 60 & Malcolm D.C. Donaldson 61
1Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland. 2Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. 3Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom. 4Institution of Clinical Science, Pediatrics, Umeå University, Umeå, Sweden. 5Genetics and Genomic Medicine Research and Teaching Department, University College London (UCL) Great Ormond Street Institute of Child Health, UCL, London, United Kingdom. 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, Unversity 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. 30Deptartment 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, Belgium. 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. 40Departament of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznań, Poland. 41Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey. 42Pediatric Department, Kantonsspital Winterthur, Winterthur, Switzerland. 43Department of Pediatric Endocrinology and Diabetology, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland. 44IRCCS Ospedale San Raffaele, Milano, Italy. 45Department of pediatric endocrinology and diabetes, Pediatric clinic, University Clinical Hospital Mostar, Mostar, Bosnia and Herzegovina. 46Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. 47Department of Paediatric Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom. 48Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Poland. 49Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium and Department of Paediatrics, AZ Groeninge, Kortrijk, Belgium. 50Depatment 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. 53Department of Pediatric Endocrinology, University Children Hospital, Kraków, Poland. 54Department of Paediatric Endocrinology, Birmingham Women's and Children's Hospital, Birmingham, United Kingdom. 55Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, United Kingdom. 56Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, United Kingdom. 57Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children (RHC), Glasgow, United Kingdom. 58Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children (RHC), Glasgow, United Kingdom. 59Biostatistics Research Group, Population Health Sciences Institute, Newcastle University, NE1 7RU, Newcastle upon Tyne, United Kingdom. 60Samson Gemmell Chair of Child Health, University of Glasgow, Glasgow, United Kingdom. 61Glasgow 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: Forty-two centers from nineteen countries, responded to our first invitation 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 721 girls with TS and unique ID were available for descriptive analysis. Karyotype distribution for 45,X monosomy was 43.8%, and for mosaicism with 46,XX, 47,XXX, 46,XY, 46,XiXq and 46,XrX cell lines were 12.1%, 4.4%, 11.8%, 12.2% and 4.0%. The mean/median age at initial contact with the center was 9.4/9.0 years. Data pertaining to hormone therapy were submitted onto the I-TS platform for 212 (29.4%) patients from 27 centers in 15 countries (3 continents), with a median (range) number of 6 (1-26) cases. There were 989 separate data entries in the medication file with the median [Q1;Q3] (range) number of visits 4 [2;5] (1-24), respectively. 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 (%) | mean / median age at start [years] | min - max /Q1; Q3 age at start[years] |
| Growth hormone | 179 (84) | 9.4/9.8 | 1.5-17.7/6.3; 12.3 |
| Oxandrolone | 5 (2) | 12.8/13.0 | 11.1-14.1/12.5; 13.4 |
| Estrogen(s)-all | 147 (69) | 13.7/13.3 | 8.4 – 36.6/12.1; 14.6 |
| Progesterone | 32 (15) | 15.7/15.1 | 12.5-23.8/14.4; 16.5 |
Conclusion: In the realm of rare diseases, collection of anonymised retrospective multicenter data enables analysis of relatively large patient cohort so that various treatment protocols can be evaluated. Preliminary analysis of our retrospective data confirms that even historically, natural estradiol has been the primary choice for puberty induction in most centres, although initiation was delayed compared to current standards. Reporting of progesterone usage was unexpectedly low, and more data on this aspect of treatment are needed. The next part of our project is to encourage colleagues to submit prospective data on pubertal induction, so that oral and transdermal outcomes can be compared.
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