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2025-06-29

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

EXPERT CONSENSUS DOCUMENT

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Martine Cools, Anna Nordenstrom, Ralitsa Robeva, Joanne Hall, Puck Westerveld, Christa Fluck, Birgit Kohler, Marta Berra, Alexander Springer, Katinka Schweizer & Vickie Pasterski on behalf of the COST Action BM1303 working group 1

Nature Reviews Endocrinology volume 14, (2018)

Abstract

The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.

最強やっと出た・・・(´;ω;`)。

2018-10-29

Living with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS).

Health Care Women Int. 2018 Oct 26:1-21. doi: 10.1080/07399332.2018.1490739. [Epub ahead of print]

Living with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS).

Fliegner M, Richter-Appelt H1, Krupp K1, Brucker SY2, Rall K2, Brunner F1.

Author information
1a University Medical Center Hamburg-Eppendorf, Institute for Sex Research and Forensic Psychiatry , Hamburg , Germany.2b Tübingen University Hospital, Center for Women's Health , Tübingen , Germany.

Abstract

In this study the authors examined the issue of permanent infertility in two diagnoses of the diverse sex developments (DSD) spectrum: Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-KÏster-Hauser Syndrome (MRKHS). The participants with CAIS (n = 12) was older, showed a lower wish for a child and was less distressed about their infertility compared to participants with MRKHS (n = 49). Our data indicated an "indifferent" attitude toward motherhood in CAIS and an "ambivalent" attitude in MRKHS. Depression was frequent in both. Infertility is a source of distress. However, the two groups seem to cope in different ways. Comprehensive medical information and psychological support should be provided.

2018-09-29

Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function.

Genet Med. 2018 Feb;20(2):214-222. doi: 10.1038/gim.2017.110. Epub 2017 Jul 20.

Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function.

Skakkebak A1,2,3, Moore PJ4, Chang S1,5,6, Fedder J7, Gravholt CH1,2.

Author information デンマーク

Abstract

Purpose
Klinefelter syndrome (KS) is associated with lower socioeconomic status and greater morbidity. However, relatively little is known about the quality of life for men with KS, or how KS and other factors combine to determine it.

Methods
A total of 132 men with KS were recruited in clinics, and 313 matched controls were identified by Statistics Denmark. Demographics, socioeconomic status, health problems and behaviors, sexual function, medical follow-up, and mental and physical quality of life (MQoL and PQoL, respectively) were assessed for all participants through surveys.

Results
Men with KS reported significantly lower education attainment levels, income, physical activity, and both PQoL and MQoL, as well as more illness, medication, and sexual dysfunction. KS status was associated directly with lower PQoL, as well as indirectly through reduced income, physical activity, and sexual function, and increased body mass index. KS status and younger age were associated directly with lower MQoL, as well as indirectly through reduced income, physical activity, and partner status (for KS status), or through partner status (for age).

Conclusion
KS status is associated with lower PQoL and MQoL through both direct and indirect paths. These results suggest the need for more comprehensive research and clinical approaches to addressing quality of life for men with KS.

2018-08-25

Experiences of People Living with Disorders of Sex Development and Sex Re-assignment: Meta-ethnography of Qualitative Studies.

J Adv Nurs. 2018 Aug 21. doi: 10.1111/jan.13833. [Epub ahead of print]

Experiences of People Living with Disorders of Sex Development and Sex Re-assignment: Meta-ethnography of Qualitative Studies.

Sani AM1, Soh KL2, Ismail IA3, Arshad MM3, Mungadi IA4, Yau SL5, Soh KG6.

Author information

1Department of Nursing Sciences, Usmanu Danfodiyo University Sokoto, Nigeria, Universiti Putra Malaysia, Serdang, Selangor, Malaysia.
2Department of Nursing and Rehabilitation, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor, Malaysia.
3Department of Professional Development and Continuing Education, Faculty of Education, Universiti Putra Malaysia, Serdang, Selangor, Malaysia.
4Department of Surgery, Usmanu Danfodiyo University, Sokoto, Nigeria.
5Department of Nursing, College of Health Science, Federal University Birnin Kebbi, Nigeria.
6Department of Sport Studies, Faculty of Education/Sport Academy, Universiti Putra Malaysia, Serdang, Selangor, Malaysia.

Abstract

AIM:

The aim of this study was to synthesize the experiences of people with disorders of sex development.

BACKGROUND:

The quality of life of people with disorders of sex development depends largely on the availability of good psychosocial and psychosexual management. There is a lack of qualitative systematic reviews of the literature on the experiences of people with disorders of sex development.

DESIGN:

The seven steps of qualitative meta-ethnography were employed in this review.

DATA SOURCES:

The following electronic databases were systematically searched until January 2017: Science Direct, Scopus, Sage online, CINAHL, PsycINFO, Medline, Wiley Online Library and Google Scholar. Search terms for this review were "disorders of sex development", "intersex", "ambiguous genitalia", "experiences", "qualitative study and "method".

REVIEW METHOD:

A 13 item scale was applied to evaluate the quality of the selected studies and synthesized using the principles of meta-ethnography.

FINDINGS:

Twelve studies met the eligibility criteria. Six major themes described the experiences of people with disorders of sex development. These included a range of physical, psychological, social and sexual experiences which affect their quality of life. Different coping strategies were employed by individuals who live with the lifelong condition.

CONCLUSION:

Disorders of sex development affect the quality of life of people living with these disorders. Nurses are tasked with providing holistic care for people with disorders of sex development in order to improve their quality of lives. As such, there is a need to explore the experiences of nurses in the management of disorders of sex development. This article is protected by copyright. All rights reserved.

This article is protected by copyright. All rights reserved.


KEYWORDS:
disorders of sex development; experiences; meta-ethnography; nurses; nursing experience; qualitative studies; quality nursing care; sex re-assignment

2018-07-08

Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE).

BMC Health Serv Res. 2018 Jul 5;18(1):527. doi: 10.1186/s12913-018-3342-0.

Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE).

Thyen U1, Ittermann T2, Flessa S3, Muehlan H4, Birnbaum W5, Rapp M6, Marshall L5, Szarras-Capnik M7, Bouvattier C8, Kreukels BPC9, Nordenstroem A10, Roehle R11, Koehler B12; dsd-LIFE group.


Author information

1Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany. ute.thyen@uksh.de.
2Institute for Community Medicine - SHIP-KEF, Ernst-Moritz-Arndt University Greifswald, Walther-Rathenau-Str. 48, 17487, Greifswald, Germany.
3Department of Health Care Management, University of Greifswald, 17487, Greifswald, Germany.
4Institute of Psychology, Department Health & Prevention, Ernst-Moritz-Arndt University Greifswald, Robert-Blum-Str. 13, 17487, Greifswald, Germany.
5Klinik fur Kinder- und Jugendmedizin, Sektion Padiatrische Endokrinologie, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany.
6Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany.
7Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland.
8Endocrinologie pediatrique, Centre de reference des maladies rares du developpement sexuel, Hopital Bicetre, Universite Paris-Sud, 78 rue du General Leclerc, 94270, Paris, Le Kremlin Bicetre, France.
9Medische Psychologie en Medisch Maatschappelijk Werk, VU Medisch Centrum, PO Box 7057, 1007, MB, Amsterdam, the Netherlands.
10Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, 171 76, Stockholm, Sweden.
11Koordinierungszentrum fur Klinische Studien (KKS) Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
12Klinik für Padiatrische Endokrinologie und Diabetologie, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

Abstract

BACKGROUND:
To investigate the association between the structural quality of care and patient satisfaction with care in individuals with disorders/ differences of sex development (DSD).

METHODS:
A multicenter cross-sectional comparative study was conducted in 14 clinics in six European countries. We assessed the level of structural quality of care in each center using a self-constructed measure (Center Score) and the level of participant satisfaction with care using the customer satisfaction questionnaire (CSQ-4) and an adopted version of the Youth Health Care - Satisfaction, Utilization & Needs (YHC-SUN-SF). Data were obtained from individuals with Turner Syndrome (261), Klinefelter Syndrome (173), 46, XX congenital adrenal hyperplasia (190) and XY-DSD (257).

RESULTS:
We found large variations between the scores for structural quality of care both within a diagnostic group and within a country; the overall association between participant satisfaction with the center score was significant.

CONCLUSIONS:
Comparative effectiveness research across Europe can lead to more insight on beneficial structures and processes and the overall strategy to care for people with rare diseases in general and specific conditions such as disorders/ differences of sex development. Appreciation of higher levels of structural quality of the centers in this study supports the concept of comprehensive care.

TRIAL REGISTRATION:
German Clinical Trials Register: Registration identification number: DRKS00006072 , date of registration April 17th, 2014. DRKS00006072 (German Clinical Trials Register).


KEYWORDS:
Disorders/differences of sex development; Multidisciplinary care; Patient satisfaction