Varied presentation of female external genitalia - a record analysis.

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.