Frasier Syndrome in an adolescent: association to gonadal dysgenesis and renal chronic disease
Keywords:
adolescent, Frasier syndrome, neprhotic syndrome, corporal dysformism, proteinuria, gonadal dysgenesis.Abstract
The case report of a 16 years adolescent with apparent good health state who had been attended approximately for 3 years in the Pediatrics service to present lack of puberal changes, primary amenorrhoea, as well as increase of volume in lower members is described. The pertinent and complementary examinations were carried out and taking into account the group of clinical elements she presented, including a significant proteinuria associated with corporal dysmorfisms and hypogenitalism, the case was exposed to a multidisciplinary team, formed by nephrologists, Endocrinology specialists, geneticists and psychologists. Frasier syndrome was diagnosed, associated to nephrotic syndrome and gonadal dysgenesis.Downloads
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References
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2. Mendizabal S, Román E. Síndrome nefrótico idiopático. En: Cruz Hernández M Tratado de Pediatría. 11 ed. Madrid: Editorial Médica Panamericana; 2014. p. 388.
3. Fernandes J, Parpacén L, Pizzi R, Hernández E, Fung L, Centeno I. Amenorrea primaria: experiencia de la Unidad de Endocrinología Ginecológica del Hospital Universitario de Caracas (Revisión de la literatura). Rev Obstet Ginecol Venez 2016;76(1):34-52.
4. Prevalencia de las enfermedades raras: datos bibliográficos. Informes periódicos de Orphanet. 2019 [citado 22/12/2018]; 2. Disponible en: https://www.orpha.net/orphacom/cahiers/docs/ES/Prevalencia_de_las_enfermedades_raras_por_prevalencia_decreciente_o_casos.pdf
5. Hernández E, FungL, Pizzi R, Núñez M. Trastorno del desarrollo sexual 46, XY tipo ovotesticular por síndrome de Frasier. Caso clínico. Rev Obstet Ginecol Venez. 2016;76(1):67-71.
6. Pizzi R, Parpacén L, Fernandes J, Hernández E, Fung L, Centeno I. Trastornos de diferenciación sexual. Rev Obstet Ginecol Venez. 2016; 76(2): 133-42.
7. Ezaki J, Hashimoto K, Asano T, Kanda S, Akioka Y, Hattori M, et al. Gonadal tumor in Frasier syndrome: a review and classification. Cancer Prev Res (Phila). 2015; 8(4):271-6.
8. Hashimoto K, Horibe YU, Ezaki J, Kanno T, Takahashi N, Akizawa Y, et al. Laparoscopically removed streak gonad revealed gonadoblastoma in Frasier Syndrome. Anticancer Res. 2017;37(7):3975-9.
9. Bouman MB, van der Sluis WB, Nurmohamed SA, van Tellingen A, Meijerink WJ. Total laparoscopic colocolpopoiesis in a kidney transplant recipient with Frasier Syndrome. Female Pelvic Med Reconstr Surg. 2016;22(1): 11-3.
10. Finken MJ, Hendriks YM, van der Voorn JP, Veening MA, Lombardi MP, Rotteveel J. WT1 deletion leading to severe 46, XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report. Horm Res Paediatr.2015;83(3):211-6.
Published
2019-07-24
How to Cite
1.
Rodríguez YF, Sardinas Solís RM, Aguilera Yumbet Y. Frasier Syndrome in an adolescent: association to gonadal dysgenesis and renal chronic disease. MEDISAN [Internet]. 2019 Jul. 24 [cited 2025 May 24];23(4):740-7. Available from: https://medisan.sld.cu/index.php/san/article/view/1051
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Case Reports
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