Update on Differences of Sex Differentiation (DSD)

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About this Research Topic

Submission deadlines

  1. Manuscript Summary Submission Deadline 14 January 2026 | Manuscript Submission Deadline 13 May 2026

  2. This Research Topic is currently accepting articles.

Background

Differences of Sex Differentiation (DSD) encompass a diverse group of congenital conditions involving atypical development of chromosomal, gonadal, or anatomical sex. While significant strides have been made in understanding DSD, ongoing research is essential to uncover the underlying genetic, molecular, and environmental factors driving these conditions. Moreover, optimizing clinical management and fostering a multidisciplinary approach remain critical challenges in the field.

This Research Topic aims to provide an updated perspective on DSD, highlighting recent advancements in diagnosis, management, and long-term outcomes. By integrating cutting-edge insights from genetics, endocrinology, surgery, and patient advocacy, this collection seeks to advance the understanding of DSD and promote innovative approaches to diagnosis, treatment, and care.

We welcome submissions of original research, reviews, opinions, perspectives, and other article types that explore, but are not limited to, the following themes:

• Reviews on Prototypic Disorders: reviews on selected disorders including a history of their discovery and recognition

• Advances in Genetic, Molecular, and Biochemical Research: novel discoveries in the genetic and molecular mechanisms underlying DSD

• Innovations in Diagnosis and Classification: updates on diagnostic tools, imaging techniques, and evolving classification systems.

• Clinical Management and Approaches: studies on the timing and outcomes of interventions such as individualized care plans, and medical and surgical therapies.

• Long-Term Health Outcomes: research on fertility, metabolic health, and gender and psychosocial issues in individuals with DSD.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

  • Case Report
  • Clinical Trial
  • Editorial
  • FAIR² Data
  • General Commentary
  • Hypothesis and Theory
  • Methods
  • Mini Review
  • Opinion

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Keywords: Differences of Sex Differentiation, DSD, 46XX, 46XY, Ovotesticular Disorder, XX Sex Reversal, XY Sex Reversal, MRKH Syndrome

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Topic editors

Manuscripts can be submitted to this Research Topic via the main journal or any other participating journal.

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