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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;`)。

2018-06-29

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;`)。

2018-04-12

Social stigmatisation in late identified patients with disorders of sex development in Indonesia.

Social stigmatisation in late identified patients with disorders of sex development in Indonesia.

BMJ Paediatr Open. 2017;1(1):e000130

Annastasia Ediati1,2, A Zulfa Juniarto2,3, Erwin Birnie4, Jolanda Okkerse5, Amy Wisniewski6, Stenvert Drop7, Sultana M H Faradz2, Arianne Dessens5

  1. Faculty of Psychology, Diponegoro University, Semarang, Indonesia
  2. Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Jawa Tengah, Indonesia
  3. Dr. Kariadi Hospital, Semarang, Indonesia
  4. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
  5. Department of Child and Adolescent Psychiatry and Psychology, Erasmus MC Sophia, Rotterdam, The Netherlands
  6. Genitourinary Institute, Cook Children’s Hospital, Fort Worth, Texas, USA
  7. Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands

Abstract

Objectives: To assess social stigmatisation related to atypical appearance of the body, including, but not limited to the external genitalia, among Indonesian patients with a disorder of sex development (DSD). Until recently, diagnostic evaluation, information about the underlying causes of DSD and treatment options were sparsely available for these patients.

Methods: Eighty-one parents of children and adolescents with DSD (aged 6-17 years) and 34 adult patients with DSD (aged 18-41 years) completed the Social Stigmatisation Scale towards DSD, an instrument developed to assesses the frequency of stigmatisation and the level of stress associated with these experiences. Open-ended questions investigated detailed information on stigmatisation as well as parents' and patients' emotional and behavioural reactions to these experiences. Differences in stigmatisation were explored across sex of rearing, gender change history, treatment status and DSD characteristics that could be easily identified by others (e.g., masculinisation of the body in women).

Results: Social stigmatisation was reported by patients with atypical appearance of their genitalia, atypical appearance of their body aside from their genitals, among those who displayed cross-gender behaviour and those who changed gender. Among participants reared as women and among children and adolescents who changed gender, social stigmatisation was associated with ostracism, depressive symptoms and social isolation.

Conclusions: Patients unable to conceal their condition (those with visible physical atypicality and those who changed gender) experienced social stigmatisation. Stigmatisation was stressful and related to isolation and withdrawal from social interaction. Education about DSD, self-empowerment and medical interventions to prevent atypical physical development may remove barriers to acceptance by others for affected individuals.

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

Arianne Dessens1, Guilherme Guaragna-Filho2, Andreas Kyriakou3, Jillian Bryce3, Caroline Sanders4, Agneta Nordenskjöld5, Marta Rozas6, Violeta Iotova7, Annastasia Ediati8, Anders Juul9, Maciej Krawczynski10, Olaf Hiort11, S Faisal Ahmed3

Author affiliations

  1. Department of Child and Adolescent Psychiatry and Psychology, Erasmus Medical Center Rotterdam – Sophia, Rotterdam, The Netherlands
  2. Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, Brazil
  3. Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Glasgow, UK
  4. University of Northern British Columbia, Canada & Adjunct Alder Hey Children Hospital, NHS Trust UK, Prince George, Canada
  5. Paediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden
  6. GrApSIA (Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos), Barcelona, Spain
  7. Department of Paediatrics, Medical University of Varna, Varna, Bulgaria
  8. Department of Clinical Psychology, Diponegoro University, Semarang, Indonesia
  9. Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  10. Department of Medical Genetics, Poznan University of Medical Science, Poznań, Poland
  11. Division of Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany

Correspondence to Dr. Arianne Dessens; a.b.dessens@erasmusmc.nl

Abstract

Objective Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown. This study investigated the modalities of psychosocial care provided in centres of DSD care.

Methods An international survey conducted among 93 providers of psychosocial care, identified through clinical networks, registries and professional forums.

Results Forty-six respondents from 22 different countries filled out the survey (49%). Most respondents (78%) were based in hospital-based expert teams. Referrals came from paediatric endocrinologists (76%), gynaecologists (39%) and paediatric urologists (37%). Psychological counselling was most frequently given to parents (74%), followed by children (39%), adolescents (37%) and adults (11%) and was most frequently focused on coping and acceptance of DSD (54%), education (52%), the atypical body (39%) and genital (41%), decisions on genital surgery (33%), complications with sexual intercourse (29%), disclosure (28%) and acceptance of infertility (11%). Respondents most frequently observed DSD related confusion about gender (54%), acceptance of cross gender behaviour (50%), anxiety (43%) and sadness and depression (38%).

Conclusions Most psychosocial care is provided to parents. It is assumed that parental support is important as acceptance is conditional to become affectionate caretakers. Although it may be more difficult for youngsters to communicate about their condition and treatment, providing opportunity to bring up issues that are important for them, is imperative. Clinicians and parents should be aware that parental and patients’ interests may not correspond completely. Psychosocial management should also include transition and adult care.

2017-12-07

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.

Orphanet J Rare Dis. 2017 Mar 20;12(1):57

Authors: COST Action BM1105, Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA

Abstract

BACKGROUND: Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produce patient education materials for congenital hypogonadotropic hypogonadism (CHH) and the olfacto-genital (Kallmann) syndrome (i.e., CHH and defective sense of smell), and to evaluate end-user acceptability. Expert clinicians, researchers and patients co-created the materials in a multi-step process. Six validated algorithms were used to assess reading level of the final product. Comprehensibility and actionability were measured using the Patient Education Materials Assessment Tool via web-based data collection. Descriptive statistics were employed to summarize data and thematic analysis for analyzing open-ended responses. Subsequently, translation and cultural adaption were conducted by clinicians and patients who are native speakers.

RESULTS: Co-created patient education materials reached the target 6th grade reading level according to 2/6 (33%) algorithms (range: grade 5.9-9.7). The online survey received 164 hits in 2 months and 63/159 (40%) of eligible patients completed the evaluation. Patients ranged in age from 18 to 66 years (median 36, mean 39 ± 11) and 52/63 (83%), had adequate health literacy. Patients scored understandability at 94.2% and actionability at 90.5%. The patient education materials were culturally adapted and translated into 20 languages (available in Additional file 1).

CONCLUSIONS: Partnering with patients enabled us to create patient education materials that met patient- identified needs as evidenced by high end-user acceptability, understandability and actionability. The web-based evaluation was effective for reaching dispersed rare disease patients. Combining dissemination via traditional healthcare professional platforms as well as patient-centric sites can facilitate broad uptake of culturally adapted translations. This process may serve as a roadmap for creating patient education materials for other rare diseases.