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May 1, 2026IJEM Case ReportsOpen Access

46,XX testicular disorder of sex development with RSPO1 intron 4 mutation: A rare genetic variant

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Authors

SGSomdatta GiriASAnitha SebastianSKSadishkumar Kamalanathan

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Overview

A rare genetic variant reveals complex genital ambiguity in a child, suggesting the impact of single-gene mutations.

Key Points

  • This study examines the role of a specific RSPO1 gene mutation in a 46,XX individual presenting with testicular development and genital ambiguity.
  • Genetic analysis identified a homozygous splice site pathogenic variant in the RSPO1 gene.
  • Clinical assessment of genital anomalies including penoscrotal hypospadias and micropenis.
  • Karyotype assessment confirmed 46,XX status despite male sexual characteristics.
  • The identified RSPO1 mutation indicates its crucial role in male gonadal development despite the 46,XX karyotype.
  • Phenotypic presentation included testicular differentiation with complications such as hypergonadotropic hypogonadism.
  • Early genetic diagnosis is essential for counseling and managing complications related to XX male individuals.

Cite This Study

Giri et al. (2026) studied this question.

synapsesocial.com/papers/69f444d3967e944ac55679cbhttps://doi.org/10.4103/ijemcr.ijemcr_25_25
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