Standardized healthcare-center-centered care of DSD over the life span

Organizational Data

DRKS-ID:
DRKS00022521
Recruitment Status:
Recruiting complete, study complete
Date of registration in DRKS:
2021-04-14
Last update in DRKS:
2023-12-05
Registration type:
Prospective

Acronym/abbreviation of the study

DSDCare

URL of the study

http://www.dsdcare.de

Brief summary in lay language

Human sexual development is determined by a complex interaction of genes, hormones and environment. As a result, some people can have both male and female characteristics, which are called “Differences of sex development (DSD)”. They are rare conditions and should be cared for in specialized centres where different medical and psychosocial professions can offer holistic care and peer support. In Germany a guideline dealing with care for people with DSD has been published in 2006. The project aims to improve care for people with DSD over the lifespan. Ten specialized centres and two patient organisations will be working together in developing precise recommendations for clinical investigations and therapies and translating them into daily routine. They will offer training schools and peer support to patients in order to empower them to participate in treatment decisions. At the same time an operational help desk and continuing education for external health care providers will be offered in order to facilitate access to special care. The achievement of these goals will be evaluated by means of a registry and patient interviews. The latter will focus on patient satisfaction and quality of life.

Brief summary in scientific language

Differences of sex development (DSD) refer to a variety of congenital conditions affecting genetic, endocrine and clinical factors of sexual development and differentiation. Depending on cause, characteristics and time of diagnosis different aspects of care have to be addressed. These include handling of diagnosis, psychosocial support, queries concerning puberty, sexuality and reproduction as well as therapeutic options as hormone replacement or genital surgery. The project aims to improve structural and process quality of medical and psychosocial care for people with DSD over the lifespan. This will be achieved by specifying and implementing the national guideline “Differences of Sex Development” established in 2016 and optimizing it based on the recommendations of the German Ethics Council and the German Medical Association. Multi-professional and interdisciplinary collaboration will improve quality of care in four EU accredited centres in five locations, two regionally approved centres, three institutions with specialised surgical expertise, equally involving two patient organizations. Establishment of an operational help desk and certified continuing education will allow for collaboration of DSD centres and peripheral health care providers. Qualified peer support and training courses will be offered to people with DSD in order to enhance participation in care. Quality indicators will be developed from the national guideline, international recommendations and qualitative interviews and will provide for monitoring and evaluation of structural, process and outcome quality, a nationwide benchmarking and harmonization of care. Project evaluation will include further patient- and provider-centred outcome parameters.

Health condition or problem studied

ICD10:
E25.0 - Congenital adrenogenital disorders associated with enzyme deficiency
ICD10:
E28.3 - Primary ovarian failure
ICD10:
E29.1 - Testicular hypofunction
ICD10:
E29.9 - Testicular dysfunction, unspecified
ICD10:
E34.5 - Androgen resistance syndrome
ICD10:
K43.6 - Other and unspecified ventral hernia with obstruction without gangrene
ICD10:
Q51.8 - Other congenital malformations of uterus and cervix
ICD10:
Q56 - Indeterminate sex and pseudohermaphroditism
ICD10:
Q55.8 - Other specified congenital malformations of male genital organs
ICD10:
Q64.1 - Exstrophy of urinary bladder
ICD10:
Q87.1 - Congenital malformation syndromes predominantly associated with short stature
ICD10:
Q87.8 - Other specified congenital malformation syndromes, not elsewhere classified
ICD10:
Q96 - Turner syndrome
ICD10:
Q97.3 - Female with 46,XY karyotype
ICD10:
Q98 - Other sex chromosome abnormalities, male phenotype, not elsewhere classified
ICD10:
Q99.0 - Chimera 46,XX/46,XY
ICD10:
Q99.1 - 46,XX true hermaphrodite
Healthy volunteers:
No Entry

Interventions, Observational Groups

Arm 1:
People with differences/disorders of sex development (DSD) according to the Chicago classification 2005; inclusion into clinical registry and completion of standardised questionnaires capturing socio-demographic items, and measuring quality of life and satisfaction with care, immediately/ 6 and 12 months after visit to DSD center.

Endpoints

Primary outcome:
Structural and process quality of care
Secondary outcome:
Outcome quality

Study Design

Purpose:
Other
Retrospective/prospective:
Prospective
Study type:
Non-interventional
Longitudinal/cross-sectional:
No Entry
Study type non-interventional:
Patient Registry

Recruitment

Recruitment Status:
Recruiting complete, study complete
Reason if recruiting stopped or withdrawn:
No Entry

Recruitment Locations

Recruitment countries:
  • Germany
Number of study centers:
Multicenter study
Recruitment location(s):
  • University medical center Klinik für allgemeine Kinder- und Jugendmedizin Kiel
  • University medical center Sektion Pädiatrische Endokrinologie und Klinik für Allgemein- und Viszeralchirurgie, Sektion Kinderchirurgie Ulm
  • University medical center Zentrum für Kinder-, Jugend- und rekonstruktive Urologie Mannheim
  • University medical center Charite, Institut für Experimentelle Pädiatrische Endokrinologie Berlin
  • Medical center Kliniken Essen-Mitte gGmbH, Klinik für Urologie, Kinderurologie und Urologische Onkologie Essen
  • University medical center Sektion für Pädiatrische Endokrinologie und Diabetologie und Klinik für Kinderchirurgie Lübeck
  • University medical center Zentrum für Reproduktionsmedizin und Andrologie Münster
  • University medical center LMU, Medizinische Klinik und Poliklinik IV, Endokrinologie München
  • University medical center Forschungsinstitut für Frauengesundheit Tübingen
  • University medical center Klinik für Kinderchirurgie Jena

Recruitment period and number of participants

Planned study start date:
2021-05-01
Actual study start date:
2021-05-03
Planned study completion date:
2023-06-30
Actual Study Completion Date:
2023-06-30
Target Sample Size:
640
Final Sample Size:
596

Inclusion Criteria

Sex:
All
Minimum Age:
no minimum age
Maximum Age:
no maximum age
Additional Inclusion Criteria:
Diagnosis of DSD according to Chicago Classification 2005 OR - overt genital ambiguity - apparent female genitalia with an enlarged clitoris, posterior labial fusion, or an inguinal/labial mass - apparent male genitalia with bilateral undescended testes, micropenis, isolated perineal hypospadias, or mild hypospadias with undescended testes - discordance between genital appearance and a prenatal karyotype - female phenotype with pubertal virilization and/or primary amenorrhea and/or no thelarche - male phenotype with pubertal hypovirilization AND written consent to participate in the study

Exclusion Criteria

- acquired hypogonadotropic hypogonadism - no written consent

Addresses

Primary Sponsor

Address:
Universitätsklinikum Schleswig-HolsteinKlinik für Kinder- und JugendmedizinSektion Pädiatrische Endokrinologie und Diabetologie
Prof. Dr. med. Olaf Hiort
Ratzeburger Allee 160
23538 Lübeck
Germany
Telephone:
0451 500 42810
Fax:
0451 500 42954
Contact per E-Mail:
Contact per E-Mail
URL:
http://www.uksh.de
Investigator Sponsored/Initiated Trial (IST/IIT):
Yes

Contact for Scientific Queries

Address:
Universitätsklinikum Schleswig-HolsteinKlinik für Kinder- und JugendmedizinSektion für Pädiatrische Endokrinologie und Diabetologie
Prof. Dr. med. Olaf Hiort
Ratzeburger Allee 160
23538 Lübeck
Germany
Telephone:
+49 451 500 42810
Fax:
+49 451 500 42954
Contact per E-Mail:
Contact per E-Mail
URL:
http://www.uksh.de

Contact for Public Queries

Address:
Universitätsklinikum Schleswig-HolsteinKlinik für Kinder- und JugendmedizinSektion für Pädiatrische Endokrinologie und Diabetologie
Dr. med. Ulla Döhnert
Ratzeburger Allee 160
23538 Lübeck
Germany
Telephone:
+49 3101 7612
Fax:
No Entry
Contact per E-Mail:
Contact per E-Mail
URL:
http://wwww.uksh.de

Principal Investigator

Address:
Universitätsklinikum Schleswig-HolsteinKlinik für Kinder- und JugendmedizinSektion für Pädiatrische Endokrinologie und Diabetologie
Prof. Dr. med. Olaf Hiort
Ratzeburger Allee 160
23538 Lübeck
Germany
Telephone:
+49 451 500 42810
Fax:
+49 451 500 42954
Contact per E-Mail:
Contact per E-Mail
URL:
http://www.uksh.de

Sources of Monetary or Material Support

Public funding institutions financed by tax money/Government funding body (German Research Foundation (DFG), Federal Ministry of Education and Research (BMBF), etc.)

Address:
Bundesministerium für Gesundheit
Unter den Linden 21
10117 Berlin
Germany
Telephone:
No Entry
Fax:
No Entry
Contact per E-Mail:
Contact per E-Mail
URL:
http://www.bundesgesundheitsministerium.de

Ethics Committee

Address Ethics Committee

Address:
Ethik-Kommission der Med. Fakultät der Universität zu Lübeck
Ratzeburger Allee 160
23538 Lübeck
Germany
Telephone:
+49-451-5004639
Fax:
+49-451-5003026
Contact per E-Mail:
Contact per E-Mail
URL:
No Entry

Vote of leading Ethics Committee

Vote of leading Ethics Committee
Date of ethics committee application:
2020-09-03
Ethics committee number:
AZ 20-322
Vote of the Ethics Committee:
Approved
Date of the vote:
2020-09-09

Further identification numbers

Other primary registry ID:
No Entry
EudraCT Number:
No Entry
UTN (Universal Trial Number):
No Entry
EUDAMED Number:
No Entry

IPD - Individual Participant Data

Do you plan to make participant-related data (IPD) available to other researchers in an anonymized form?:
Yes
IPD Sharing Plan:
All of the individual participant data collected during the trial, after deidentification, as well as the study protocol, informed consent form, statistical analysis plan and analytical code will be available for two years following publication. Written methodologically sound proposals should be directed to Olaf.Hiort@uksh.de. All proposals will be reviewed by the governance board of the project.

Study protocol and other study documents

Study protocols:
No Entry
Study abstract:
No Entry
Other study documents:
No Entry
Background literature:
No Entry
Related DRKS studies:
No Entry

Publication of study results

Planned publication:
No Entry
Publikationen/Studienergebnisse:
No Entry
Date of first publication of study results:
No Entry
DRKS entry published for the first time with results:
No Entry

Basic reporting

Basic Reporting / Results tables:
No Entry
Brief summary of results:
No Entry