Synonyms
Swyer’s syndrome
Definition
46, XY pure gonadal dysgenesis is a disorder in sexual development in which patients with 46, XY chromosomal constitution have female phenotype, absence of male secondary sexual characteristics, and absence of Turnerian stigmata.
Clinical Features
Two forms are distinguished: complete 46, XY gonadal dysgenesis (46, XY CGD) and incomplete (partial) 46, XY gonadal dysgenesis (46, XY PDG). Patients with the complete form grow as girls, present at puberty for amenorrhea, clitoromegaly, sexual infantilism, or eunuchoidism. In the adulthood, they develop hypergonadotropic hypogonadism with low levels of estradiol. Patients with 46,XY PGD seek consultation in childhood for presenting ambiguous or undermasculinizated external genitalia and most of them grow as boys (Berberoğlu et al. 2018).
46,XY pure gonadal dysgenesis commonly is diagnosed during the study of extragonadal pathology with which it is frequently associated such as progressive renal...
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Berberoğlu, M., ŞÄ±klar, Z., & Ankara University Dsd Ethic Committee. (2018). The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years. J Clin Res Pediatr Endocrinol, 10, 30–37.
Gabriel Ribeiro de Andrade, J., Marques-de-Faria, A. P., Fabbri, H. C., de Mello, M. P., Guerra-Júnior, G., & Maciel-Guerra, A. T. (2014). Long-term follow-up of patients with 46,XY partial gonadal dysgenesis reared as males. International Journal of Endocrinology, 2014, 480724.
Gomes, N. L., Lerário, A. M., Zamboni, A. M., de Moraes, D. R., da Silva, T. E., Arnhold, I. J. P., Batista, R. L., Júnior, J. A. D. F., Costa, E. F., Nishi, M. Y., Inacio, M., Domenice, S., & Mendonca, B. B. (2018). Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. Clinical Endocrinology (Oxford). https://doi.org/10.1111/cen.13717. [Epub ahead of print].
Hanlon, A. J., & Kimble, R. M. (2015). Incidental gonadal tumors at the time of gonadectomy in women with Swyer syndrome: A case series. Journal of Pediatric and Adolescent Gynecology, 28, e27–e29.
Hughes, I. A., Houk, C., Ahmed, S. F., Lee, P. A., & Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. (2006). Consensus statement on management of intersex disorders. Journal of Pediatric Urology, 2, 148–162.
Plante, B. J., & Fritz, M. A. (2008). A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis. Fertil Steril, 90, 2015.e1–2.
Rothacker, K. M., Ayers, K. L., Tang, D., Joshi, K., van den Bergen, J. A., Robevska, G., Samnakay, N., Nagarajan, L., Francis, K., Sinclair, A. H., & Choong, C. S. (2018). A novel, homozygous mutation in <i>desert hedgehog</i> (<i>DHH</i>) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: A case report. International Journal of Pediatric Endocrinology, 2018, 2.
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Nistal, M., González-Peramato, P. (2020). Disorder of Sex Development, 46, XY Pure Gonadal Dysgenesis. In: Raspollini, M.R., Lopez-Beltran, A. (eds) Uropathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-41894-6_5016
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DOI: https://doi.org/10.1007/978-3-030-41894-6_5016
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