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Disorders of Sexual Differentiation
1Department of Pathology, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA; Department of Pathology, Harvard Medical School, Boston, MA, USA.
Surgical Pathology Clinics
|February 4, 2016
Summary
Disorders of sexual differentiation arise from genetic errors affecting genotype and phenotype, impacting genital development. These conditions stem from chromosomal abnormalities or gene-level errors during development.
Area of Science:
- Genetics
- Developmental Biology
- Endocrinology
Background:
- Disorders of sexual differentiation (DSD) involve a mismatch between an individual's genetic makeup (genotype) and their physical characteristics (phenotype).
- Phenotypic presentation in DSD encompasses variations in external and internal genital development.
- The underlying causes of DSD are rooted in genetic processes, occurring either at conception or during subsequent developmental stages.
Purpose of the Study:
- To define and categorize the fundamental genetic basis of disorders of sexual differentiation.
- To elucidate the relationship between genotype and phenotype in the context of DSD.
- To highlight the genetic origins of DSD, irrespective of inheritance patterns or fully understood molecular pathways.
Main Methods:
- Review of genetic principles governing sexual development.
- Analysis of chromosomal and gene-level mechanisms in DSD.
- Examination of transcription and translation pathways involved in phenotype determination.
Main Results:
- Disorders of sexual differentiation are fundamentally characterized by a disjunction between genotype and phenotype.
- The genetic error can manifest at fertilization (chromosomal level) or postfertilization (gene function level).
- Errors are genetic, whether sporadic or inherited, impacting sexual development pathways.
Conclusions:
- All disorders of sexual differentiation have a genetic etiology.
- Understanding these genetic underpinnings is crucial for diagnosing and managing DSD.
- Further research is needed to fully elucidate the complex genetic pathways involved in DSD.
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