Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation | ||
| Middle East Journal of Medical Genetics | ||
| Volume 10, Issue 2, June 2022 PDF (735.27 K) | ||
| DOI: 10.4103/mxe.mxe_14_21 | ||
| Author | ||
| Srivathsa T. Reddy | ||
| Abstract | ||
| Sex determination and differentiation is a unique overly complex biological process controlled by a concerted action of a large network of genes, growth factors, hormones, and environmental determinants. The precise dosage and accurate spatial and temporal expression of those genes are essential for the normal sexual development. Recently, the advent of high-throughput technologies has greatly revolutionized our understanding of genetic pathways controlling sex development. Nevertheless, the condition is still highly challenging, and a small subset of patients receive a definitive molecular diagnosis. Large-scale collaborative basic science projects have been establishment, together with international registries for setting up standardized guidelines and diagnostic approaches that depend on careful clinical evaluation, hormonal and imaging analyses, and cytogenetic and molecular diagnostic tools. This review discusses the recent updates and how application of recent technologies in a stepwise fashion can significantly enhance the disorders of sexual development diagnostic rates and potentiate the management outcomes. Establishing a precise genetic diagnosis greatly affects the patient and family quality of life and allows for personalized management, predicting future risk and expected interventions, and provides better family counseling. | ||
| Keywords | ||
| CNV; DSD; long-read sequencing; Next-generation sequencing; sex determination; tumor risk | ||
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