Disorders of Sex Development: Lessons to be Learned from Studies of Spina Bifida and Craniofacial Conditions
Open accessAbstract
The purpose of this review is to discuss research methods and clinical management strategies employed with other conditions (i. e., spina bifida and craniofacial conditions) and how these methods and strategies could be applied to youth with disorders of sex development (DSD). The review focuses specifically on the potential overlap between DSD and these other conditions across the following 3 areas: (1) developmentally-oriented theories that underlie the research base for chronic physical conditions; (2) research designs and methodological features that have proved fruitful in these areas; and (3) the potential applicability to DSD of clinical management practices for youth with craniofacial conditions.
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“Few condition-specific measures currently exist, and thus quantitative and qualitative work towards developing and evaluating such a measure may be beneficial (Holmbeck & Aspinall, 2015; Klassen et al., 2012; Patrick et al., 2007).”
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“…argument has been made that lessons relevant to DSD clinical research and health-care delivery can potentially be learned from studies of peer relations in physically typical children (Bukowski, McCauley, & Mazur, 2015) and from children with other congenital conditions (Holmbeck & Aspinall, 2015).”
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“The organizations of MDTs are institutional specific, but the goals are the same and as follows: optimal; rapid; and efficient patient-centered evaluation, diagnosis, and treatment (Holmbeck and Aspinall, 2015; Heineman et al., 2017).”
BackgroundDisorders of Sex Development: Pediatric Psychology and the Genital Exam
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“As an example, Holmbeck and Aspinall (2015) reviewed lessons from the developmental psychopathology literature in spina bifida and craniofacial conditions, as they might be applicable to youth with DSD.”
MethodFeragen, K. J. B., Myhre, A., & Stock, N. (2019) · The Cleft Palate-Craniofacial Journal · doi:10.1177/1055665619851650 · Cited by 13 · see citing works
“The overall aim of the MDT is to present a coordinated voice in the patient’s complex treatment plan and to facilitate rapid and efficient patient-centered assessment and treatment (Holmbeck and Aspinall, 2015; Buchanan et al., 2014; Heineman et al., 2017).”
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“CFA is a broad term used to describe a wide range of conditions affecting the head and neck (Holmbeck & Aspinall, 2015), with prevalence rates and characteristics varying widely across conditions (Buchanan, Xue, & Hollier, 2014).”
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Developmental Focus on Disorders of Sex Development: Special Issue Overview
Freund, L., Taymans, S., Wehr, E., & Stratakis, C. (2015) · Hormone and Metabolic Research · doi:10.1055/s-0035-1549880 · Cited by 3
Shepherd, L., Zucchelli, F., Aspland, R., White, P., Hotton, M., & Stock, N. M. (2026) · The Cleft Palate-Craniofacial Journal · doi:10.1177/10556656251392271 · Cited by 1 · see citing works
- Authors
- Holmbeck, G., & Aspinall, C.
- Affiliations
- Loyola University Chicago (US)
- Seattle Children's Hospital (US)
- Corresponding author
- Holmbeck, G.
- ORCID
- Holmbeck, G.
- Venue
- Hormone and Metabolic Research
- Publisher
- Georg Thieme Verlag KG
- Published
- 2015-02-26
- Volume
- 47
- Issue
- 05
- Pages
- 380-386
- ISSN
- 0018-5043 (ISSN-L)
- 1439-4286
- OpenAlex
- W2315459600
- Cited by
- 13
- References
- 48
- Citations by year
- 2025: 1 · 2024: 1 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 2 · 2015: 2
- FWCI
- 1.16
- Type
- journal article
- Language
- en
- Open access
- green
- ecommons.luc.edu
- Licence
- cc-by-nc-nd
- Locations
- Hormone and Metabolic Research (publishedVersion)
- PubMed (publishedVersion)
- Loyola eCommons (Loyola University of Chicago) (submittedVersion, cc-by-nc-nd)
- Funders
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD048629)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Social Sciences › Psychology › Social Psychology › LGBTQ Health, Identity, and Policy
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- disorders of sex development, spina bifida, craniofacial conditions, developmental theory, research design, clinical management, interdisciplinary research
- MeSH terms
- Humans, Disorders of Sex Development, Spinal Dysraphism, Craniofacial Abnormalities, Disease Management, Biomedical Research
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