Varied presentation of female external genitalia - a record analysis.

Ambiguous genitalia, a cluster of varied presentations classified as disorders of sexual development (DSD), involves a spectrum of manifestations affecting both internal and external genital organs. Diagnosing and treating these disorders is complex and requires a multidisciplinary approach. This article aims to explore the complexities and challenges of diagnosing and managing DSD. These cases highlight the importance of genetic, phenotypic, and biochemical evaluations in achieving accurate diagnosis and treatment plans, which may include surgical interventions and psychological support. The cases presented include individuals with 46,XY and 46,XX DSD, highlighting conditions such as MRKH syndrome, recto-vaginal fistula, and persistent urogenital sinus, androgen insensitivity syndrome each with unique clinical presentations and treatment challenges. Treatment options, such as McIndoe vaginoplasty, and considerations regarding psychological counselling and legal gender assignment further complicate the management of DSD, emphasizing the need for a comprehensive, individualized care approach.

Authors

Publication Details

Journal
PubMed
Published
2025-01-01
DOI
https://doi.org/10.48095/ccachp202599
Primary Topic
Female Genital Mutilation/Cutting Issues
Type
article
Field-Weighted Citation Impact
0.00
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article

Varied presentation of female external genitalia - a record analysis.

M S Venkatesh, Pooja D. Nagwani, K N Manjunath, S Chilikuri S et al.
PubMed
Female Genital Mutilation/Cutting Issues
article

Varied presentation of female external genitalia - a record analysis.

M S Venkatesh, Pooja D. Nagwani, K N Manjunath, S Chilikuri S, P Sanmati
article en

Abstract

Ambiguous genitalia, a cluster of varied presentations classified as disorders of sexual development (DSD), involves a spectrum of manifestations affecting both internal and external genital organs. Diagnosing and treating these disorders is complex and requires a multidisciplinary approach. This article aims to explore the complexities and challenges of diagnosing and managing DSD. These cases highlight the importance of genetic, phenotypic, and biochemical evaluations in achieving accurate diagnosis and treatment plans, which may include surgical interventions and psychological support. The cases presented include individuals with 46,XY and 46,XX DSD, highlighting conditions such as MRKH syndrome, recto-vaginal fistula, and persistent urogenital sinus, androgen insensitivity syndrome each with unique clinical presentations and treatment challenges. Treatment options, such as McIndoe vaginoplasty, and considerations regarding psychological counselling and legal gender assignment further complicate the management of DSD, emphasizing the need for a comprehensive, individualized care approach.

PubMedVol. 67(2)
Openalex Percentile: Top 66%
Female Genital Mutilation/Cutting Issues
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Varied presentation of female external genitalia - a record analysis. — M S Venkatesh, Pooja D. Nagwani, et al. · PubMed (2025) | TGRS Research Map | TGRS