Definition
Patients with female phenotype and karyotype 46, XX who present absence of spontaneous pubertal development, primary amenorrhea, normal height, absence of Turnerian stigmata, and hypergonadotropic hypogonadism. The presentation may be sporadic or familial with autosomal recessive inheritance. Consanguinity is frequent.
Clinical Features
Patients present with delayed puberty, primary amenorrhea or infertility. In a small number of cases it is associated with the following anomalies: neurosensory hearing loss (Perrault’s syndrome), achondroplasia, fatal lung fibrosis with immunodeficiency.
Incidence
Less than 1/10.000.
Age
Adolescent and adults.
Sex
Female.
Site
Abdominal cavity.
Treatment
As these patients are not carriers of Y-chromosoma sequences, the risk of developing a germinal tumor is very low, only isolated cases of gonadoblastoma and dysgerminoma have been reported. The need of gonadectomy is questioned, but close follow-up is required (Kanagal et al. 2013).
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References and Further Reading
Kanagal, D. V., Prasad, K., Rajesh, A., Kumar, R. G., Cherian, S., Shetty, H., & Shetty, P. K. (2013). Ovarian Gonadoblastoma with Dysgerminoma in a young girl with 46, XX Karyotype: A case report. Journal of Clinical and Diagnostic Research, 7, 2021–2022.
Huang, H., Wang, C. Q., & Tian, Q. J. (2016). Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. Gynecological Endocrinology, 32, 995–998.
Weinberg-Shukron, A., Renbaum, P., Kalifa, R., Zeligson, S., Ben-Neriah, Z., Dreifuss, A., Abu-Rayyan, A., Maatuk, N., Fardian, N., Rekler, D., Kanaan, M., Samson, A. O., Levy-Lahad, E., Gerlitz, O., & Zangen, D. (2015). A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. The Journal of Clinical Investigation, 125, 4295–4304.
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Nistal, M., González-Peramato, P. (2020). Disorder of Sex Development, 46, XX 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_5015
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DOI: https://doi.org/10.1007/978-3-030-41894-6_5015
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