Work

Don’t judge a book by its cover – A rare case report of 46,XY disorder of sex development

Year: 2025

Type: article

Abstract: A rare type of 46,XY disorder of sex development (DSD), persistent Müllerian duct syndrome, is characterized by persistence of Müllerian duct derivatives in patients who are male both genotypically and phenotypically. Here, we present a rare case report of a 4-year-old child presenting with bilateral undescended testes with a delayed diagnosis of 46,XY DSD. A high level of suspicion and awareness is required to diagnose this condition. Early treatment is required to maintain fertility and avoid malignancy in the remaining Müllerian derivatives.

Source: Journal of Pediatric Endocrinology and Diabetes

DOI: 10.25259/jped_23_2025

Authors: Haripriya, Tejasvi Sheshadri, Antony Robert Charles, Vidya Bangalore Umashankar

Institution: Rainbow Children's Hospital

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4416230915