Citation, DOI, disclosures and article data
Citation:
Hacking C, Rasuli B, Gaillard F, et al. Mixed gonadal dysgenesis. Reference article, Radiopaedia.org (Accessed on 19 Feb 2025) https://doi.org/10.53347/rID-15547
Disclosures:
At the time the article was last revised Craig Hacking had the following disclosures:
- Philips Australia, Paid speaker at Philips Spectral CT events (ongoing)
These were assessed during peer review and were determined to
not be relevant to the changes that were made.
View Craig Hacking's current disclosures
Mixed gonadal dysgenesis (MGD) is a type of gonadal dysgenesis characterized by gonadal asymmetry, and/or sex chromosomal mosaicism, as well as retained Müllerian ducts.
Depending on the chromosomal composition, patients may have testes and/or streak gonads.
Genetics
- affected individuals are often 45XO/46XY
Associations
The absence of a second X chromosome may lead to the formation of a streak ovary in which the dysgenetic testis may invoke formation of hilar and medullary cords.
Neoplastic transformation may result from unprotected germ cells and abnormally high and prolonged gonadotropin stimulation with the risk exceeding 50% as the third decade is approached. These include:
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1. Donahoe PK, Crawford JD, Hendren WH. Mixed gonadal dysgenesis, pathogensis, and management. J. Pediatr. Surg. 1979;14 (3): 287-300. J. Pediatr. Surg. (link) - Pubmed citation
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2. Robboy SJ, Miller T, Donahoe PK et-al. Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases. Hum. Pathol. 1982;13 (8): 700-16. - Pubmed citation
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3. Shapiro O, Welch TR, Sheridan M et-al. Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. Can J Urol. 2007;14 (6): 3767-9. Can J Urol (link) - Pubmed citation
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