Disorders of sex development (DSDs), their presentation and management in different cultures
Abstract
The way disorders of sex development (DSD) are viewed and managed in different cultures varies widely. They are complex conditions and even well-educated lay people find them difficult to understand, but when families are very poor and lacking in basic education, and the health system is starved of resources, traditional beliefs, folk remedies and prejudice combine to make the lives of children and adults with DSD extremely difficult and sad. Rumour and discrimination isolate them from their communities and they become devalued. People with DSDs desire the same things in life as everyone else-to find someone who will love them, to be valued as human beings, to feel at home in their own bodies, to be able to have satisfactory sexual relations should these be desired, to be able to trust their medical advisers and to be integrated into the general community. Long term outcome studies have been published from many countries, but these studies have not necessarily been critical of the values that underpinned the type of treatment given to the patients. There is a need for standardized instruments that would allow a true comparison of the quality of outcomes from the patients' perspective. Much could be done to improve equity between rich and poor countries for the benefit of people with DSDs. A focus on developing cheap, robust diagnostic tests, making essential medicines available for all, training surgeons to do better operations, educating health professionals, families and the general community in order to break down prejudice against people with DSDs, and training mental health workers in this specialized field, would do much to alleviate the burden of the condition.
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Newborn screening for CAH is not available in many developing countries, delaying diagnosis and increasing mortality, particularly in boys who lack atypical genitalia.
“Newborn screening for CAH is not available in many developing countries (729,730), delaying diagnosis and increasing mortality, particularly in boys who lack atypical genitalia (731,732).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [730]
Pediatric endocrinologists are scarce, and late referral to specialized centers may delay diagnosis and treatment.
“Pediatric endocrinologists are scarce (560,730,733), and late referral to specialized centers may delay diagnosis and treatment.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [730]
Hormonal assays for diagnosis and follow-up have limited availability and are expensive.
“Hormonal assays for diagnosis and follow-up have limited availability and are expensive (730,733).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [730]
Gender reassignments in late-identified patients may be met with resistance or refusal because of social stigma and cultural pressure.
“Gender reassignments in late-identified patients may be met with resistance or refusal because of social stigma and cultural pressure (730).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [730]
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- Authors
- Warne, G. L., & Raza, J.
- Affiliations
- Royal Children's Hospital (AU)
- National Institute of Child Health (PK)
- Corresponding author
- Warne, Garry L.
- ORCID
- Raza, Jamal
- Venue
- Reviews in Endocrine and Metabolic Disorders
- Published
- 2008-07-17
- Volume
- 9
- Issue
- 3
- Pages
- 227-236
- ISSN
- 1389-9155 (ISSN-L)
- 1573-2606
- OpenAlex
- W2126356528
- Cited by
- 149
- References
- 32
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 26 · 2023: 4 · 2022: 10 · 2021: 7 · 2020: 13 · 2019: 7 · 2018: 7 · 2017: 9 · 2016: 13 · 2015: 9 · 2014: 7 · 2013: 5 · 2012: 4
- FWCI
- 2.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Reviews in Endocrine and Metabolic Disorders (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Social Sciences › Psychology › Social Psychology › LGBTQ Health, Identity, and Policy
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Keywords
- disorders of sex development, stigma and discrimination, patient-reported outcomes, quality of life, gender identity, mental health support, surgical training, health equity
- MeSH terms
- Cross-Cultural Comparison, Decision Making, Developing Countries, Female, Humans, Male, Disorders of Sex Development
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