ReviewMolecular and cellular endocrinology2018
New technologies to uncover the molecular basis of disorders of sex development.
Review in Molecular and cellular endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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.
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Who cites it
15 citing papers in PubMed.
- The potential of deep learning on the discovery of new genes implicated in differences of sex development.Computational and structural biotechnology journal · 2026Article
- Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.Annals of pediatric endocrinology & metabolism · 2025Article
- Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements.Frontiers in genetics · 2025Article
- Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.Biology of sex differences · 2024Article
- Precision diagnostics in children.Cambridge prisms. Precision medicine · 2023Review
- Review
- Identifying the Resource Needs of Young People with Differences of Sex Development.Journal of clinical medicine · 2022Article
- Fadrozole-mediated sex reversal in the embryonic chicken gonad involves a PAX2 positive undifferentiated supporting cell state.Frontiers in cell and developmental biology · 2022Article
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- Optical genome mapping enables constitutional chromosomal aberration detection.American journal of human genetics · 2021Article
- Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development).International journal of molecular sciences · 2020Review
- Article
- Gonadal Sex Differentiation: Supporting Versus Steroidogenic Cell Lineage Specification in Mammals and Birds.Frontiers in cell and developmental biology · 2020Review
- The Physical Health of Men and Boys: Integrating Biomedical and Psychological Science.Psychology of men & masculinity · 2019Article
- Translating genomics to the clinical diagnosis of disorders/differences of sex development.Current topics in developmental biology · 2019Review
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
The elegant developmental biology experiments conducted in the 1940s by French physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo depended whether the embryonic gonad develops into a testis or not. In humans, anomalies in the processes that regulate development of chromosomal, gonadal or anatomic sex result in a spectrum of conditions termed Disorders/Differences of Sex Development (DSD). Each of these conditions is rare, and understanding of their genetic etiology is still incomplete. Historically, DSD diagnoses have been difficult to establish due to the lack of standardization of anatomical and endocrine phenotyping procedures as well as genetic testing. Yet, a definitive diagnosis is critical for optimal management of the medical and psychosocial challenges associated with DSD conditions. The advent in the clinical realm of next-generation sequencing methods, with constantly decreasing price and turnaround time, has revolutionized the diagnostic process. Here we review the successes and limitations of the genetic methods currently available for DSD diagnosis, including Sanger sequencing, karyotyping, exome sequencing and chromosomal microarrays. While exome sequencing provides higher diagnostic rates, many patients still remain undiagnosed. Newer approaches, such as whole-genome sequencing and whole-genome mapping, along with gene expression studies, have the potential to identify novel DSD-causing genes and significantly increase total diagnostic yield, hopefully shortening the patient's journey to an accurate diagnosis and enhancing health-related quality-of-life outcomes for patients and families.
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Registered trials
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