Approach to the adult patient with mixed gonadal dysgenesis
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Keywords

Mixed gonadal dysgenesis
hypogonadism
mosaicism
sexual ambiguity

How to Cite

Agudelo Zapata, Y. (2022). Approach to the adult patient with mixed gonadal dysgenesis. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 9(1). https://doi.org/10.53853/encr.9.1.723

Abstract

A 32 years old patient with sexual ambiguity without any follow-up or surgery is presented. The patient is identified as male gender, has hypergonadotrophic hypogonadism, and a 45,X/46,XY mosaicism was found in the karyotype. A mixed gonadal dysgenesis was diagnosed. This paper discusses the appropriate multidisciplinary approach and management to avoid complications. Also, this paper emphasizes the importance of the patient’s autonomy and the individualization of the treatment.

https://doi.org/10.53853/encr.9.1.723
PDF (Español (España))

References

Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, et al. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018;14(7):415-429.

Weidler EM, Pearson M, van Leeuwen K,Garvey E. Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.Semin Pediatr Surg. 2019;28(5):150841.

Mendoza V, Pinillos P, García R. Trastorno de desarrollo sexual 46,XX ovotesticular: presentación de un caso SRY negativo con ovotestes bilateral en el Hospital Universitario de Santander (HUS) Rev Esp Endocrinol Pediatr. 2014;5 (2):77-82.

Guerrero Gómez DA, Agudelo Zapata Y, Sandoval Alzate H, Maldonado Acosta L, Arteaga Díaz JM, Franco Vega R. Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso. Revista Endocrino. 2017;3(4):36-8.

Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488-500.

Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85(3):158–180.

Lindhardt Johansen M, Hagen CP, Rajpert-De Meyts E, Kjærgaard S, Petersen BL, Skakkebæk NE, et al. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function a retrospective longitudinal study. J Clin Endocrinol Metab. 2012;97(8):E1540-9.

Tam Y, Wong Y, Pang K, To K, Yiu A, Wong H et al. Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management. Journal of Pediatric Surgery. 2016;51(9):1462-1466.

Cardenas JA, Velásquez JD. Responsabilidad del estado por intervenciones de reasignación de sexo y adecuación genital temprana. Revista digital de derecho administrativo. 2017; 18:287-323. https://doi.org/10.18601/21452946.n18.12

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Copyright (c) 2022 Revista Endocrino

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