Disorders of sex development (DSD): clinical service delivery in the United States
Open accessAbstract
Following the principles of care recommended in the 2006 Consensus Statement on Disorders of Sex Development (DSD), along with input from representatives of peer support and advocacy groups, this study surveyed DSD clinical management practices at healthcare facilities in the United States. DSD are congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Facilities providing care for patients with DSD were targeted for participation. Specialty providers completed a survey with questions in six broad categories: Institution Information, Nomenclature and Care Guidelines, Interdisciplinary Services, Staff and Community Education, DSD Management, and Research. Twenty‐two of 36 targeted sites (61%) participated. Differences were observed between sites with regard to what conditions were considered to be DSD. All sites reported some degree of involvement of pediatric urology and/or surgery and pediatric endocrinology in the care of DSD patients. Gynecology and neonatology were most frequently not represented. Wide variation was observed across sites in continuing education standards, obtaining informed consent for clinical procedures, and in specific clinical management practices. This survey is the first to assess DSD clinical management practices in the United States. The findings establish a baseline of current practices against which providers delivering care to these patients and their families can benchmark their efforts. Such surveys also provide a practical framework for collaboration in identifying opportunities for change that enhance health and quality of life outcomes for patients and families affected by DSD.
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Given the relative rarity of CAH, national and international registries are valuable in developing and testing best practices throughout the lifespan.
“Given the relative rarity of CAH, national and international registries are valuable in developing and testing best practices throughout the lifespan (737).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [737]
The Introduction (page unavailable) describes a U.S. DSD patient registry designed to inform clinical management, and the Discussion says participation in its network may enhance practices. The paper does not establish CAH’s rarity or address the value of national and international CAH registries for developing and testing best practices throughout the lifespan. (LLM, conf=0.82)
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Research works printed but not linked: 13
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Cited by
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Self-citation
- Authors
- Rolston, A. M., Gardner, M., van Leeuwen, K., Mohnach, L., Keegan, C., Délot, E., Vilain, E., Sandberg, D. E., Advocacy, M. O. T. D., & Advisory Network Accord Alliance
- Affiliations
- University of Michigan (US)
- Department of Surgery Phoenix Children's Hospital Phoenix Arizona
- University of California, Los Angeles (US)
- Corresponding author
- Sandberg, David E.
- ORCID
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2017-05-30
- Volume
- 175
- Issue
- 2
- Pages
- 268-278
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- PMC
- PMC5479330
- OpenAlex
- W2617311585
- Cited by
- 75
- References
- 0
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 6 · 2023: 37 · 2022: 3 · 2021: 8 · 2020: 5 · 2019: 4 · 2018: 6 · 2017: 2 · 2014: 1
- FWCI
- 1.90
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD068138, DSD‐Translational Research Network)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Keywords
- disorders of sex development, clinical management practices, multidisciplinary care, pediatric urology, pediatric endocrinology, informed consent, continuing medical education, quality of care, United States
- MeSH terms
- Delivery of Health Care, Female, Humans, Male, Quality of Life, Surveys and Questionnaires, Disorders of Sex Development, United States, Sex Determination Processes
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