LAS PECULIARIDADES DE LA DISGENESIA GONADAL MIXTA (46, XY/45,X): UNA REVISIÓN DE LA LITERATURA
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https://doi.org/10.47820/recima21.v2i9.724Palabras clave:
disgenesia gonadal mixta es un trastorno del desarrollo sexualResumen
La disgenesia gonadal mixta es un trastorno del desarrollo sexual del cromosoma sexual, comúnmente relacionado con el mosaicismo cromosómico de los cariotipos 45,X/46,XY, además de presentar gónadas digenéticas y una anatomía reproductiva interna y externa cambiante. Este estudio tiene como objetivo revisar la literatura en pacientes varones pediátricos con disgenesia gonadal mixta. Revisión de la literatura realizada mediante búsquedas en artículos relevantes para el tema en las plataformas digitales PubMed y Scielo, utilizando la palabra clave: "disgenesia gonadal mixta".
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dos Santos, A., Ribeiro Andrade, J., Piveta, C., de Paulo, J., GuerraJunior, G., de Mello, M. and Maciel-Guerra, A. Screening of Y chromosome microdeletions in 46, XY partial gonadal dysgenesis and in patients with a 45, X/46, XY karyotype or its variants. BMC Medical Genetics. 2013; (14)1.
Sánchez de la Cruz B, Nieto A. Desarrollo sexual normal y anormal. En: Sánchez de la Cruz B, editora. Ginecología Infanto juvenil. Editorial Médica Panamericana. 2011; 226-235.
Klee P, Béna F, Birraux J, Dahoun S, Dirlewanger M, Girardin C et al. A NovelSRYMutation Leads to Asymmetric SOX9 Activation and Is Responsible for Mixed 46,XY Gonadal Dysgenesis. Hormone Research in Paediatrics. 2012;78(3):188-192.
Sadler, T. W. Langman, embriologia médica / T. W. Sadler; revisão técnica Estela Bevilacqua. - 13. ed. - Rio de Janeiro: Guanabara Koogan, 2019.il.
P.A.Lee,C.P.Houk,S.F.Ahmedetal.,“Consensus statement on management of intersex disorders. International Consensus Conference on Intersex,” Pediatrics, vol. 118, no. 2, pp. e488– e500, 2006.
P.A.Lee,A.Nordenstr¨om,C.P.Houketal.,“Global disorders of sex development update since 2006: perceptions, approach and care,”Hormone Researchin Paediatrics, vol.85,pp.158–180, 2016.
Rosa R, D'Ecclesiis W, Dibbi R, Rosa R, Trevisan P, Graziadio C et al. 45, X/46, XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. Sao Paulo Medical Journal. 2014;132(6):332-338.
Alvarez-Nava F, Gonzalez S, Soto S, Pineda L, MoralesMachin A. Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum. Genet Couns 1999; 10:233-43.
Méndez JP, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinik O, Fernandéz-del-Castilho C, Reyes E, et al. Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological and histopathological findings in 16 patients. Am J Med Genet 1993; 46:263-7.
Skakkebaek NE, Rajpert-De Meyts E, Main KM: Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001.16: 972–978.
Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Med Genet 1990;46:156-67.
Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987; 25:191- 218.
Cools M, Looijenga LH, Wolffenbuttel KP, Drop SL. Disorders of sex development: update on the genetic background, terminology and risk for development of germ cell tumors. World J Pediatr. 2009;5(2):93-102.
Bondy CA. New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord 2005;6(4):269e80.
Wallace TM, Levin HS. Mixed gonadal dysgenesis. A review of 15 patients reporting single cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma, and a complex vascular anomaly. Arch Pathol Lab Med1990;114(7):679e88.
Mortensen KH, Andersen NH, Gravholt CH (2012) Cardiovascular Phenotype in Turner Syndrome–Integrating Cardiology, Genetics, and Endocrinology. Endocr Rev doi:10.1210/er.2011-1059.
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL (1999) 45,X/46,XY mosaicism: report of 27 cases. Pediatrics 104: 304–308.
Fahimeh Soheilipoura,b, Ommolbanin Abeda, Babak Behnamc, Mohammadreza Abdolhosseinia, Peyman Alibeigia, Abdolreza Pazoukia, A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar
Nishina-Uchida N, Fukuzawa R, Hasegawa Y, Morison I. Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46, XY Karyotype. Medicine. 2015; 94(14): e720.
Adam MP, Fechner PY, Ramsdell LA, Badaru A, Grady RE, Pagon RA, McCauley E, Cheng EY, Parisi MA, Shnorhavorian M: Ambiguous genitalia: what genetic testing is practical? Am J Med Genet A 2012; 158A:1337– 1343.
S. Faisal Ahmed, John C. Achermann†, Wiebke Arlt, Adam Balen, Gerry Conway, Zoe Edwards, Sue Elford, Ieuan A. Hughes, Louise Izatt§§, Nils Krone, Harriet Miles, Stuart O’Toole, Les Perry, Caroline Sanders, Margaret Simmonds. Andrew Watt and Debbie Willis. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).
Bergadá I, Milani C, Bedecarrás P, Andreone L, Ropelato MG, Gottlieb S, Bergadá C, Campo S, Rey RA: Time course of the serum gonadotropin surge, inhibins, and anti-Müllerian hormone in normal newborn males during the first month of life. J Clin Endocrinol Metab 2006; 91: 4092–4098.
Kuiri-Hanninen T, Seuri R, Tyrvainen E, Turpeinen U, Hamalainen E, Stenman UH, Dunkel L, Sankilampi U: Increased activity of the hypothalamic-pituitary-testicular axis in infancy results in increased androgen action in premature boys. J Clin Endocrinol Metab 2011; 96: 8–105.
De Groote K, Cools M, De Schepper J, Craen M, Franc¸ois I, et al. (2013) Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism. PLoS ONE 8(2): e54977. doi:10.1371/journal.pone.0054977.
Marianna Nicoletta-Gentile, Lesile Lam, Mariam Ganpat, Yelena Kogelman. An unusual case of ambiguous genitalia. IJCRI 2012;3(3):24-26.
Weston WW: Informed and shared decisionmaking: The crux of patient-centred care. CMAJ 2001; 165:438–439.
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