Dysgenetic male pseudohermaphroditism.

Authors

  • E Proença Serviço de Cirurgia Pediátrica, Hospital Maria Pia, Porto.
  • S Freitas
  • M Fonseca
  • S Figueiredo
  • C Rodrigues

DOI:

https://doi.org/10.20344/amp.1888

Abstract

Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty.

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How to Cite

1.
Proença E, Freitas S, Fonseca M, Figueiredo S, Rodrigues C. Dysgenetic male pseudohermaphroditism. Acta Med Port [Internet]. 2001 Dec. 31 [cited 2022 Dec. 6];14(5-6):511-4. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888

Issue

Section

Arquivo Histórico