Differences (or Variations) of Sex Development (DSD) encompass a heterogeneous group of congenital conditions marked by atypical development of chromosomal, gonadal, or anatomical sex. Timely diagnosis and multidisciplinary management are essential to optimize clinical outcomes and support psychosocial well-being. However, in many low- and middle-income countries (LMICs), care for individuals with DSD, including Congenital Adrenal Hyperplasia (CAH) remains particularly challenging because of limited healthcare resources, sociocultural complexities, and gaps in health system infrastructure.

Accurate diagnosis of DSD often depends on access to specialized investigations, including hormonal assays, genetic testing, and imaging modalities, which are frequently unavailable or unaffordable in resource-limited settings (RLS). As a result, many individuals experience delayed or incorrect diagnosis, leading to inappropriate management decisions and increased risk of complications. In particular, delayed recognition of conditions such as salt-wasting CAH can result in life-threatening adrenal crises in early life.

Management of DSD requires a coordinated, multidisciplinary approach involving pediatric and adult endocrinologists, surgeons, geneticists, psychologists, and specialized nursing care. In many low-resource settings, such integrated care teams are not readily available, resulting in fragmented services and variability in clinical practice. Decisions regarding sex assignment, timing of surgical interventions, and long-term hormonal management are further complicated by limited clinical guidelines adapted to these contexts.

Beyond clinical challenges, DSD care is deeply influenced by sociocultural, ethical, and legal considerations. Stigma, cultural perceptions of gender, and societal pressures may significantly impact decision-making processes for patients and families in LMIC. Ethical dilemmas related to informed consent, autonomy, and timing of irreversible interventions are often amplified in settings where awareness and support systems are limited.

2. Goal of this research topic:

This Research Topic addresses a critical and underrepresented area in global endocrinology by focusing on the challenges of diagnosing and managing DSD, including CAH, in LMIC. By integrating clinical, ethical, and health system perspectives, the collection aims to generate context-relevant evidence and practical solutions to improve care delivery. The outcomes of this Research Topic have the potential to inform policy, strengthen health systems, and promote equitable and culturally sensitive care for individuals with DSD worldwide.

3. Scope and information for Authors:

This Research Topic aims to provide a comprehensive platform for clinicians, researchers, and policymakers to explore the unique challenges and emerging solutions in the diagnosis and management of DSD in low-resource settings. We welcome original research, reviews, case series, and perspectives addressing clinical care, health system barriers, sociocultural dimensions, ethical considerations, and innovative strategies tailored to resource-limited environments. By fostering global collaboration and highlighting diverse experiences, this collection seeks to advance equitable, context-sensitive care for individuals with DSD worldwide.

Submissions are encouraged in, but not limited to, the following areas:

1. Epidemiology and Burden of DSD and CAH in LMIC:

• Prevalence and patterns of DSD in LMICs and Registry challenges

• Genetic and environmental influences

2. Diagnostic Challenges

• Late presentation of CAH/DSD and dilemma of sex reassignment.

• Limited access to diagnostic facilities, e.g., hormonal and genetic testing

• Clinical diagnostic approaches in resource-limited settings

• Setting-up newborn screening for CAH in LMIC

3. Clinical Management and Surgical Interventions

• Management of CAH and adrenal-related DSD

• Hormonal treatment strategies in LRS

• Surgical decision-making and timing in LRS

• Long-term follow-up and transition to adult care

4. Health System Barriers

• Development of MD DSD teams

• Referral systems and access to specialized care

• Access to essential medicines

5. Sociocultural and Psychological Aspects

• Stigma and cultural perceptions of sex and gender

• Family and community influences on decision-making

• Psychosocial support needs

• Gender identity and patient-centered care

• Natural course of gender development in various DSDs

6. Ethical and Legal Considerations

• Informed consent in pediatric populations

• Timing of irreversible interventions

• Child autonomy and rights across the globe

• Legal frameworks and policy gaps

• Pragmatic approach to cultural diversity

• Patient support groups in LMIC

7. Innovations and Context-Specific Solutions

• Development of context-adapted guidelines

• Community engagement and education

• Advocacy for equitable access to care

Are you interested in contributing a manuscript to this Research Topic?

Variations of Sex Development in Low- and Middle-Income Settings: Clinical Challenges, Sociocultural Barriers, and Context-Specific Solutions