Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata. Some of the challenges in the clinical management of patients with MGD include gonadal malignancy risk, decisions on gonadectomy, fertility and sex of rearing. The management is predominantly multidisciplinary with a focus on patient and family centred care.

• Publication year

  2025

• Venue

  Clinical Endocrinology

• Publication date

  2025-11-09

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/cen.70053PMID 41208147PMCID 12757904
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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