Clinical European study on the outcome of hormone therapies, surgery and psychological support in disorders/variations of sex development (DSD)

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1 Clinical European study on the outcome of hormone therapies, surgery and psychological support in disorders/variations of sex development (DSD) B. Köhler, W. Arlt, C. Bouvattier, P. Chatelain, H. Claahsen-van der Grinten, P. Cohen- Kettenis, A. Nordenstrom, C. Pienkowski, A. Richter-Unruh, J. Slowikowska-Hilczer, C. Sultan, M. Szarras-Capnik, N. Reisch, U. Thyen, C. Wiesemann ECE, 16th Congress of Endocrinology Wroclaw, Poland Funding ; Nothing 01/07/2014 to disclose Slide no 1

2 Definition of DSD Congenital conditions with incongruence between the chromosomal gonadal and phenotypic sex 01/07/2014 Slide no 2

3 Actual medical DSD classification Chicago consensus Statement on Management of Intersex Disorders, Pediatrics 2006 Sex chromosome DSD XY DSD XX DSD 45,X0 and Variants (Turner Syndrome) 47, XXY (Klinefelter Syndrome) 45,X0/46,XY (mixed gonadal dysgenesis) 46,XX/46,XY Impaired testes development Complete XY gonadal dysgnesis Partial XY gonadal dysgenesis Ovotesticular DSD Gonadal regression Impaired testosterone synthesis e.g. LH-Receptor- defects, 3 -HSD HSD-3, 5 -reduktase-2 deficiency Impaired testosterone action Complete and partial androgen insensitiviy (CAIS, PAIS) AMH and AMHR defects Hypospadias, cloacal exstrophy Impaired ovarian development Ovotesticular, testicular DSD Androgen excess: 1. fetal: Congenital adrenal hyperplasia 21-Hydroxylase-, 11 -Hydroxylase-, 3 -HSD-deficiency 2. feto-placental aromatase-, oxidoreductase-deficiency 3. maternal: luteoma Dysgenesis of the uterus or vagina Cloacal exstrophy, MURCS 01/07/2014 Slide no 3

4 Individuals with DSD Long-term hormone therapies Estrogen (Turner syndrome, XY DSD, XX DSD)) Testosterone (Klinfelter syndrome, XY DSD) Cortisone, fludrocrotisone (CAH) surgery Vaginoplasty (CAH, XY DSD) Hypospadias repair (XY DSD, hypospadias) Orchidopexy (XY DSD, hypospadias) Gonadectomy (XY DSD) Gender issues (XY DSD, CAH, 45,X0/46,XY, 46,XY/46,XX)) 01/07/2014 Slide no 4

5 Individuals with DSD Impairment of Quality of life (QoL) Psychological well-being Social Participation Sexual life Effects of hormone therapies on long-term health? Controversies about timing and need of surgery Infertility Stigma 01/07/2014 Slide no 5

6 Objectives Objective 1: To improve clinical care of patients with disorders of sex development (DSD) Objective 2: To develop clinical European guidelines for a better care of patients with DSD 01/07/2014 Slide no 6

7 Consortium 14 Multidisciplinary Teams + Ethics PeadEndo, Endocrinology, Psychology, QoL, Gyn, Urol, Andrology, Surgery Nordenström, Stockholm, KI, S Cohen-Kettenis, Amsterdam, vumc, NL Claasen-van der Grinten, Nijmegen, RUNC S Szarras-Capnik, Warschau, IPCZD, PL Slowikowska-Hilczer, Lodz, MUL, PL Arlt, Birmingham, BHAM, UK Bouvattier, Paris, UPS, FR UK NL D PL Thyen, Lübeck, UZL, DE Köhler, Berlin, Charité, DE coordination Wiesemann, UMG-GOE, DE Chatelain, Lyon, HCL, FR F Reisch, München, LMU, DE Pienkowski, Chu Toulouse, FR Richter-Unruh, Münster, WWU, DE Sultan, Chu Montpellier, FR 01/07/2014 Slide no 7

8 Objective 1 To improve clinical care Evaluation of QoL, psychological well-being and psychosocial adaption Long-term effects of hormone therapies on health Outcomes, need and appropriate age of surgery Patients view on treatment and care Ethical issues Specific needs of patients with different cultural backgrounds 01/07/2014 Slide no 8

9 Preparation of the study protocol 2013 Four working groups - Psychology and QoL - Medical issues - Surgery and Gynaecology/Urology - Ethics - Advice from patient support groups (CAH, XY DSD, Turner, Klinefelter syndrome) 01/07/2014 Slide no 9

10 Participants >= 16 years Sex chromosome DSD XY DSD XX DSD 45,X0 and Variants (Turner Syndrome) 47, XXY (Klinefelter Syndrome) 45,X0/47,XY (mixed gonadal dysgenesis) 46,XX/46,XY Impaired testes development Complete XY gonadal dysgnesis Partial XY gonadal dysgenesis Ovotesticular DSD Impaired testosterone synthesis e.g. LH-Receptor- defects, 3 -HSD HSD-3, 5 -reduktase-2 deficiency Impaired testosterone action Complete and partial androgen insensitiviy (CAIS, PAIS) Impaired ovarian development Ovotesticular DSD Congenital adrenal hyperplasia 21-Hydroxylase-, 11 -Hydroxylase-, 3 -HSD-deficiency Oxidoreductase deficiency Hypospadias 500 patients 500 patients 500 patients 01/07/2014 Slide no 10

11 Study plan Medical history and exam Blood test optional gyn./urol. exam Bone mineral density (DXA-scan) Body composition (BIA) Optional: Ultrasound (genitalia) Ultrasound (carotid), sperm analysis online questionnaires QoL, psychological well-being, experiences with treatment and care, psychosexual and ethical issues 1-2 h 2 h 2 h Retrospective data diagnosis, hormone therapy, surgery Qualitative interviews in a subset of participants 01/07/2014 Slide no 11

12 Recruitment February July Study centers and associated hospitals, clinics 2. Patient support groups 3. I-DSD registry 01/07/2014 Slide no 12

13 Data analysis QoL, psychological well-being, psychosocial adaption Influence of 1. sex assignment, 2. surgery, 3. hormone therapy and 4. psychological support on QoL, psychological well-being and psychosocial adaption Influence of co-founding factors such as metabolism, fertility, psychosexual development, social support, patients view, patients age and cultural influences 01/07/2014 Slide no 13

14 European Guidelines Development of European guidelines for the management and care of DSD Respecting the different needs XY DSD Turner syndrome Klinefelter syndrome CAH Hypospadias 01/07/2014 Slide no 14

15 Ongoing activities To promote general knowledge on the different diagnoses included in XY DSD, Turner and Klinefelter syndrome and CAH Information of educational and health care institutions 01/07/2014 Slide no 15

16 We would be pleased if you could announce the study to your patients and promote participation in the study centers Nordenström, Stockholm, KI, S Cohen-Kettenis, Amsterdam, vumc, NL Claasen-van der Grinten, Nijmegen, RUNC S Szarras-Capnik, Warschau, IPCZD, PL Slowikowska-Hilczer, Lodz, MUL, PL Arlt, Birmingham, BHAM, UK Bouvattier, Paris, UPS, FR UK NL D PL Thyen, Lübeck, UZL, DE Köhler, Berlin, Charité, DE coordination Wiesemann, UMG-GOE, DE Chatelain, Lyon, HCL, FR F Reisch, München, LMU, DE Pienkowski, Chu Toulouse, FR Richter-Unruh, Münster, WWU, DE Sultan, Chu Montpellier, FR 01/07/2014 Slide no 16 Contact:

17 Thank you on behalf of dsd-life! Contact: 01/07/2014 Slide no 17

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