IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)
Gender identity in XY DSD individuals raised as girls: analysis of the SDMregistries
Mayra se Souza El Beck 1 , Jillian Bryce 2 , Angela Lucas-Herald 3 , Zofia Kolesińska 4 , Guilherme Guaragna Filho 5 , Sabine Hannema 6 , Maria Felicia Faienza 7 , Federico Baronio 8 , Rita Ortolano 8 , Rodolfo Rey 9 , Inas Mazen 10 , Navoda Atapattu 11 , Sumudu N Seneviratne 12 , Martine Cools 13 , Arne Dereu 14 , Malika Alimussina 3 , Sukran Poyrazoglu 15 , Ahmet Uçar 16 , Paul-Martin Holterhus 17 , Dominika Janus 18 , Malgorzata Wasniewska 19 , Roberto Coco 19 , Gianni Russo 20 , Marianna Rita Stancampiano 20 , Marek Niedziela 4 , Erica Van den Akker 21 , Arianne Dessens 22 , Gabriella Gazdagh 23 , Gloria Herrmann 24 , S Faisal Ahmed 2,3 & Gil Guerra-Júnior 1
1Department of Paediatrics, School of Medical Sciences, State University of Campinas, Campinas, Brazil; 2Office for Rare Conditions, University of Glasgow, UK; 3Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK; 4Department of Paediatric Endocrinology and Rheumatology, Institute of Paediatrics, Poznan University of Medical Sciences, Poznan, Poland; 5Department of Paediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil; 6Department of Paediatric Endocrinology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; 7Paediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari ‘’Aldo Moro’’, Bari, Italy; 8Paediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 9Centro de Investigaciones Endocrinológicas “Dr. César Bergad” (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina; 10Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt; 11Endocrinology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka; 12Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka; 13Department of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium; 14Department of Paediatrics, Ghent University Hospital, Ghent, Belgium15Paediatric Endocrinology Unit, Department of Paediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; 16Department of Paediatric Endocrinology, University of Health Sciences Türkiye, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; 17Department of Paediatrics, Paediatric Endocrinology and Diabetes, University Hospital of Schleswig Holstein (UKSH), Kiel, Germany; 18Department of Paediatric and Adolescent Endocrinology, University Children’s Hospital, Jagiellonian University Medical College, Krakow, Poland; 19Department of Human Pathology of Adulthood and Childhood, Division of Paediatrics, University of Messina, Messina, Italy; 20Department of Paediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Endo-ERN Centre for Rare Endocrine Conditions, Milan, Italy; 21Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children’s Hospital, Rotterdam, the Netherlands; 22Department of Child and Adolescent Psychiatry, Erasmus University Medical Centre, Sophia Children’s Hospital, Rotterdam, the Netherlands; 23Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, United Kingdom; 24Department of Paediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, Centre for Rare Endocrine Diseases, University Medical Centre Ulm, Ulm, Germany. Correspondence to: Mayra de Souza El Beck, [email protected]
Background: Assigning sex in individuals with DSD remains challenging, with increasing consideration of genetic and prenatal hormonal influences rather than external genital appearance alone. Although more infants with a Y chromosome are now raised as boys, evidence on gender outcomes in those raised as girls remains limited. This study evaluated gender identity and sex reassignment in individuals with XY DSD raised as girls using multicentre registry data, exploring associations with diagnosis, clinical characteristics and psychosocial context.
Methods: Individuals registered in I-DSD on the SDMregistries platform with 46,XY DSD who had been raised as girls and were aged 12–21 years were included. Data regarding diagnosis, phenotype, pubertal development, surgical history, gender identity related outcomes, and psychological support at key stages of care were analysed.
Results: Data were obtained from 73 subjects from 23 centres. The most common diagnoses were complete androgen insensitivity syndrome (34.2%) and complete gonadal dysgenesis (20.5%). Disorders of androgen synthesis accounted for 24.6% of the sample. Median age was 8.4 (0–19.8) years at follow-up start and 17.7 (12.4–21) years at last evaluation. The median age at the onset of puberty was 12.4 years (10.3–19.8), with hormonal induction in 69.9%. Gonadectomy occurred in 71.2%, mainly due to tumour risk, with a median age of 11.9 years (0–18.3). The majority (80.8%) did not undergo genital surgery. Sex reassignment from female to male occurred in 4 (5.5%) subjects (11.8–17 years), and gender distress in 6 (8.2%) (including one under 10 years old); gender questioning occurred in 12 (16.4%), predominantly during adolescence. Sex reassignment, gender questioning, and distress were more frequent in disorders of androgen synthesis (P <0.05). Sex reassignment was also more frequent in individuals who had not undergone gonadectomy (P <0.01).
Conclusion: Most individuals with 46,XY DSD who were raised as girls had female gender identity, without gender distress or questioning. Gender-related concerns were more frequently observed in individuals with disorders of androgen synthesis and in those with preserved gonads. These findings are limited by the number of individuals assessed but highlight important factors for future studies to investigate.
Volume 118
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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