ReviewIntractable & rare diseases research2025
Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development.
Review in Intractable & rare diseases research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
4 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Disorders of sex development (DSDs) encompass a spectrum of congenital conditions characterized by discordance among chromosomal, gonadal, and anatomical sex. Advances in genetic and molecular technologies have elucidated a complex landscape of underlying etiologies, including mutations in genes regulating sex determination and differentiation, copy number variations, and epigenetic alterations. These discoveries have not only enhanced diagnostic accuracy but also deepened our understanding of the molecular mechanisms driving DSDs. This review provides a comprehensive overview of the genetic architecture in DSDs, with a focus on key regulatory genes and their network interactions. We also highlight emerging concepts in the field, such as oligogenic inheritance and regulatory genomic elements, and discuss implications for personalized diagnosis, classification, and therapeutic strategies. By integrating recent advances from both clinical and basic research, this review aims to offer a framework for future investigations and translational applications in the management of DSDs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.