Definition
Mixed gonadal dysgenesis (Sohval 1963) is a disorder of sexual differentiation characterized by the presence of persistent Müllerian structures, unilateral testis, and contralateral streak gonad in a patient with different degrees of masculinization of the external genitalia and 45 X0/46,XY karyotype.
Clinical Features
The phenotype is very heterogeneous since it has been extended based on the umbrella of 45,X0/46,XY karyotype. Three clinical pictures are described: (1) Patients with ambiguous genitalia and female phenotype; (2) patients with male phenotype; and (3) patients with female phenotype with turnerian stigmata. Patients with ambiguous genitalia and a female phenotype usually show a normal ipsilateral hemiscrotum with the presence of a testicle as a sign of good testosterone production. Since the contralateral gonad is a streak gonad unable to produce AMH or testosterone, the ipsilateral external...
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References and Further Reading
Cools, M., Pleskacova, J., Stoop, H., Hoebeke, P., Van Laecke, E., Drop, S. L., Lebl, J., Oosterhuis, J. W., Looijenga, L. H., Wolffenbuttel, K. P., & Mosaicism Collaborative Group. (2011). Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism. The Journal of Clinical Endocrinology and Metabolism, 96, E1171–E1180.
Flannigan, R. K., Chow, V., Ma, S., & Yuzpe, A. (2014). 45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. Canadian Urological Association Journal, 8, E108–E110.
Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A. & International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. (2006). Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics, 118, e488–500.
Ocal, G., Berberoğlu, M., Sıklar, Z., Ruhi, H. I., Tükün, A., Camtosun, E., Savaş Erdeve, S., Hacıhamdioğlu, B., & Fitöz, S. (2012). The clinical and genetic heterogeneity of mixed gonadal dysgenesis: Does “disorders of sexual development (DSD)” classification based on new Chicago consensus cover all sex chromosome DSD? European Journal of Pediatrics, 171, 1497–1502.
Rosa, R. F., D’Ecclesiis, W. F., Dibbi, R. P., Rosa, R. C., Trevisan, P., Graziadio, C., Paskulin, G. A., & Zen, P. R. (2014). 45,X/46,XY mosaicism: Report on 14 patients from a Brazilian hospital. A retrospective study. São Paulo Medical Journal, 132, 332–338.
Sohval, A. R. (1963). “Mixed” gonadal dysgenesis: A variety of hermaphroditism. American Journal of Human Genetics, 15, 155–158.
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Nistal, M., González-Peramato, P. (2019). Disorder of Sex Development, Mixed Gonadal Dysgenesis. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5017-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_5017-1
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