Gonadectomy in conditions affecting sex development: a registry-based cohort study

Author:

Lucas-Herald Angela K1,Bryce Jillian1,Kyriakou Andreas1,Ljubicic Marie Lindhardt2,Arlt Wiebke34,Audi Laura5,Balsamo Antonio6,Baronio Federico6,Bertelloni Silvano7,Bettendorf Markus8,Brooke Antonia9,Claahsen van der Grinten Hedi L10,Davies Justin H11,Hermann Gloria12,de Vries Liat1314,Hughes Ieuan A15,Tadokoro-Cuccaro Rieko15,Darendeliler Feyza16,Poyrazoglu Sukran16,Ellaithi Mona17,Evliyaoglu Olcay18,Fica Simone19,Nedelea Lavinia19,Gawlik Aneta20,Globa Evgenia21,Zelinska Nataliya21,Guran Tulay22,Güven Ayla23,Hannema Sabine E2425,Hiort Olaf26,Holterhus Paul-Martin27,Iotova Violeta28,Mladenov Vilhelm28,Jain Vandana29,Sharma Rajni29,Jennane Farida30,Johnston Colin31,Guerra Junior Gil32,Konrad Daniel33,Gaisl Odile33,Krone Nils34,Krone Ruth35,Lachlan Katherine36,Li Dejun37,Lichiardopol Corina38,Lisa Lidka39,Markosyan Renata40,Mazen Inas41,Mohnike Klaus42,Niedziela Marek43,Nordenstrom Anna44,Rey Rodolfo45,Skaeil Mars46,Tack Lloyd J W47,Tomlinson Jeremy48,Weintrob Naomi1349,Cools Martine47,Ahmed S Faisal1

Affiliation:

1. 1Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

2. 2Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

3. 3Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, UK

4. 4Centre for Endocrinology, Diabetes and Metabolism, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK

5. 5Department of Pediatrics and Pediatric Endocrinology Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, Barcelona, Spain

6. 6Department of Pediatrics, University of Bologna Hospital of Bologna Sant Orsola-Malpighi, Bologna, Italy

7. 7Department of Pediatrics, University Hospital Pisa, Pisa, Italy

8. 8Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University Hospital Heidelberg, Heidelberg, Germany

9. 9Macleod Diabetes and Endocrine Centre, Royal Devon and Exeter Hospital, Exeter, UK

10. 10Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands

11. 11Department of Paediatric Endocrinology, Faculty of Medicine, University of Southampton, Southampton, UK

12. 12Department of Pediatrics and Adolescent Medicine, University Medical Centre, Ulm, Germany

13. 13Paediatrics, Tel Aviv Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

14. 14Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Centre of Israel, Petah Tikvah, Israel

15. 15Department of Paediatrics, University of Cambridge, Cambridge, UK

16. 16Department of Pediatric Endocrinology, Istanbul University, Istanbul Medical School, Istanbul, Turkey

17. 17Faculty of Medical Laboratory Sciences, Al-Neelain University, Khartoum, Sudan

18. 18Department of Pediatric Endocrinology, Istanbul University – Cerrahpasa, Cerrahpaşa Medical School, Istanbul, Turkey

19. 19Endocrinologie, Universitatea de Medicina si Farmacie Carol Davila Facultatea de Medicine, Bucharest, Romania

20. 20Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, Katowice, Poland

21. 21Ukrainian Research Center of Endocrine Surgery, Endocrine Organs and Tissue Transplantation, MOH of Ukraine, Kyiv, Ukraine

22. 22Department of Pediatric Endocrinology, Marmara University, Istanbul, Turkey

23. 23Pediatric Endocrinology Clinic, Zeynep Kamil Women and Children Hospital, Istanbul, Turkey

24. 24Pediatric Endocrinology, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, the Netherlands

25. 25Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands

26. 26Division of Paediatrics, University of Lübeck, Lübeck, Germany

27. 27Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital of Schleswig-Holstein Campus Kiel/Christian-Albrechts-University of Kiel, Kiel, Germany

28. 28UMHAT ‘Sveta Marina’, Medical University of Varna, Varna, Bulgaria

29. 29Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

30. 30Unité d’Endocrinologie/Diabétologie et Gynécologie de l’Enfant et de l’Adolescent, Hôpital d’Enfants, Casablanca, Morocco

31. 31Department of Endocrinology, St Albans City Hospital, West Hertfordshire Hospitals Trust, St Albans, UK

32. 32Disciplina de Endocrinologia e Metabologia, Faculdade deo Ciencias Medicas da Universidade de Campinas, Departamento de Pediatria e Departamento de Clinica Medica, Sao Paolo, Brazil

33. 33Division of Pediatric Endocrinology and Diabetology and Children’s Research Center, University Children’s Hospital, Zürich, Switzerland

34. 34Department of Oncology and Metabolism, Academic Unit of Child Health, University of Sheffield, Sheffield, UK

35. 35Endocrinology, Birmingham Children’s Hospital, Birmingham, UK

36. 36Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK

37. 37Centre for Prenatal Diagnosis, Jilin University First Hospital, Jilin, China

38. 38Endocrinology, University of Medicine and Pharmacy Craiova, Craiova, Romania

39. 39Endocrinology, Institute of Prague, Czech Republic

40. 40Endocrinology, Yerevan State Medical University Endocrinology Clinic, Yerevan, Armenia

41. 41Department of Clinical Genetics, National Research Centre, Cairo, Egypt

42. 42Department of Pediatrics, Otto-von-Guericke University, Magdeburg, Germany

43. 43Department of Pediatric Endocrinology, Poznan University of Medical Sciences, Poznan, Wielkopolskie, Poland

44. 44Dept of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden

45. 45CONICET – FEI – División de Endocrinología, Centro de Investigaciones Endocrinológicas ‘Dr. César Bergadá’ (CEDIE), Buenos Aires, Argentina

46. 46Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK

47. 47Pediatric Endocrinology Service, University Hospital Ghent, Ghent, Belgium

48. 48Oxford Centre for Diabetes, Endocrinology & Metabolism, NIHR Oxford Biomedical Research Centre, Churchill Hospital, University of Oxford, Oxford, UK

49. 49Pediatric Endocrinology, Dana Dwek Children’s Hospital, Tel Aviv Medical Centre, Tel Aviv, Israel

Abstract

Objectives To determine trends in clinical practice for individuals with DSD requiring gonadectomy. Design Retrospective cohort study. Methods Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to specialist centre; and location of centre from cases reported to the International DSD Registry and who were over 16 years old in January 2019. Results Data regarding gonadectomy were available in 668 (88%) individuals from 44 centres. Of these, 248 (37%) (median age (range) 24 (17, 75) years) were male and 420 (63%) (median age (range) 26 (16, 86) years) were female. Gonadectomy was reported from 36 centres in 351/668 cases (53%). Females were more likely to undergo gonadectomy (n = 311, P < 0.0001). The indication for gonadectomy was reported in 268 (76%). The most common indication was mitigation of tumour risk in 172 (64%). Variations in the practice of gonadectomy were observed; of the 351 cases from 36 centres, 17 (5%) at 9 centres had undergone gonadectomy before their first presentation to the specialist centre. Median age at gonadectomy of cases from high-income countries and low-/middle-income countries (LMIC) was 13.0 years (0.1, 68) years and 16.5 years (1, 28), respectively (P < 0.0001) with the likelihood of long-term retention of gonads being higher in LMIC countries. Conclusions The likelihood of gonadectomy depends on the underlying diagnosis, sex of rearing and the geographical setting. Clinical benchmarks, which can be studied across all forms of DSD will allow a better understanding of the variation in the practice of gonadectomy.

Publisher

Bioscientifica

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

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