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46,XX DSD: the masculinised female
Richard J Auchus1, Alice Y Chang
1Division of Endocrinology and Metabolism, Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390-8857, United States. Richard.Auchus@UTSouthwestern.edu
Summary
Disorders of sex development (DSDs) in 46,XX individuals result from excess androgens like dihydrotestosterone (DHT) during fetal development. Current treatments are often complicated, highlighting a need for improved therapeutic strategies.
Area of Science:
- Endocrinology
- Genetics
- Developmental Biology
Background:
- 46,XX disorders of sex development (DSDs) lead to virilization in female fetuses.
- The common pathway involves excess dihydrotestosterone (DHT) or other androgens in genital tissue during critical differentiation periods.
- In females, the fetal adrenal gland, not the testis, produces DHT precursors.
Purpose of the Study:
- To review the pathogenesis of 46,XX DSDs.
- To discuss current therapeutic approaches and their limitations.
- To identify areas requiring improved treatment strategies.
Main Methods:
- Review of scientific literature on 46,XX DSDs.
- Analysis of steroid biosynthesis pathways.
- Evaluation of existing treatment outcomes.
Main Results:
- Understanding steroidogenesis logically explains the pathogenesis of these DSDs.
- Current therapies for 46,XX DSDs frequently present complications.
- Significant room for improvement exists in existing treatment modalities.
Conclusions:
- Pathogenesis of 46,XX DSDs is linked to fetal adrenal androgen production.
- Therapeutic strategies require refinement due to treatment complications.
- Further research is essential to develop more effective treatments for 46,XX DSDs.
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