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Cited by 78Sexual Differentiation and DisordersUrological Disorders and TreatmentsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Current models of care for disorders of sex development - results from an International survey of specialist centres

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Kyriakou, Andreas, Dessens, Arianne, Bryce, Jillian, Iotova, Violeta, Juul, Anders, Krawczynski, Maciej, Nordenskjöld, Agneta, Rozas, Marta +3 more·2016·Orphanet Journal of Rare Diseases
DOI 10.1186/s13023-016-0534-8PMC PMC5117601
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Abstract

BACKGROUND: To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014. RESULTS: A total of 78 (63 %) clinicians, in 75 centres, from 38 countries responded to the survey. A formal national network for managing DSD was reported to exist in 12 (32 %) countries. The paediatric specialists routinely involved in the initial evaluation of a newborn included: endocrinologist (99 %), surgeon/urologist (95 %), radiologist (93 %), neonatologist (91 %), clinical geneticist (81 %) and clinical psychologist (69 %). A team consisting of paediatric specialists in endocrinology, surgery/urology, clinical psychology, and nursing was only possible in 31 (41 %) centres. Of the 75 centres, 26 (35 %) kept only a local DSD registry and 40 (53 %) shared their data in a multicentre DSD registry. Attendance in local, national and international DSD-related educational programs was reported by 69, 78 and 84 % clinicians, respectively. Participation in audits/quality improvement exercises in DSD care was reported by 14 (19 %) centres. In addition to complex biochemistry and molecular genetic investigations, 40 clinicians (51 %) also had access to next generation sequencing. A genetic test was reported to be more preferable than biochemical tests for diagnosing 5-alpha reductase deficiency and 17-beta hydroxysteroid dehydrogenase 3 deficiency by 50 and 55 % clinicians, respectively. CONCLUSION: DSD centres report a high level of interaction at an international level, have access to specialist staff and are increasingly relying on molecular genetics for routine diagnostics. The quality of care provided by these centres locally requires further exploration.

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  • Delayed diagnosis, emotional, and gender assignment problems negatively influence quality of life.

    “Delayed diagnosis (557,734), emotional (731), and gender assignment problems (732,735) negatively influence quality of life (560,736).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [736]

    The Discussion describes diagnostic delays associated with limited access to tests and says that determining sex of rearing can be a reason to investigate a newborn. It does not say that delayed diagnosis, emotional problems, or gender-assignment problems negatively affect quality of life. Searches for those factors and quality-of-life outcomes found no passage establishing the claimed relationship; no page numbers are available in our copy. (LLM, conf=0.76)

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Authors
Kyriakou, A., Dessens, A., Bryce, J., Iotova, V., Juul, A., Krawczynski, M., Nordenskjöld, A., Rozas, M., Sanders, C., Hiort, O., & Ahmed, S. F.
Affiliations
  • Queen Elizabeth University Hospital (GB)
  • Erasmus MC - Sophia Children’s Hospital (NL)
  • Medical University of Varna (BG)
  • University of Copenhagen (DK)
  • Poznan University of Medical Sciences (PL)
  • Karolinska University Hospital (SE)
  • University of Northern British Columbia (CA)
  • University of Lübeck (DE)
Corresponding author
Kyriakou, Andreas
ORCID
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2016-11-21
Volume
11
Issue
1
Pages
155-155
ISSN
1750-1172 (ISSN-L)
DOI
10.1186/s13023-016-0534-8
PMC
PMC5117601
OpenAlex
W2550908367
Cited by
78
References
0
Citations by year
2026: 3 · 2025: 6 · 2024: 8 · 2023: 3 · 2022: 7 · 2021: 15 · 2020: 6 · 2019: 11 · 2018: 10 · 2017: 9
FWCI
5.20
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
  • ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • European Society for Paediatric Endocrinology
  • European Commission (201444)
  • Medical Research Council (G1100236, MR/N003403/1)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Urology › Urological Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords
disorders of sex development, models of care, expert centers, multidisciplinary team, genetic testing, 5-alpha-reductase deficiency, newborn screening, next-generation sequencing, international cooperation
MeSH terms
Child, Child Health Services, Data Collection, Delivery of Health Care, Female, Humans, Male, Patient Care Team, Physician-Patient Relations, Quality of Life, Registries, Disorders of Sex Development, Global Health, Internationality

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