ABSTRACT
El síndrome de Turner es una afección genética por falta de un cromosoma X. Algunos casos se presentan con mosaicos XY, aumentando el riesgo de tumores gonadales de comportamiento maligno. Es importante determinar la presencia del cromosoma Y para realizar la extirpación profiláctica de las gónadas disgenésicas. Presentamos el caso de una paciente con síndrome de Turner, mosaico 45,X0/46,XY, asociado a tumor del saco vitelino puro gigante. Esta asociación es un caso extremadamente raro de tumor maligno en una paciente con disgenesia gonadal mixta.
Turners syndrome is a genetic disorder caused by lack of an X chromosome. In some cases it is present with XY mosaicism, with increased risk of malignant gonadal tumors. It is important to determine the presence of the Y chromosome to perform prophylactic removal of the dysgenetic gonads. We present the case of a patient with Turners syndrome 45,X0/46,XY mosaicism associated to pure giant yolk sac tumor. This association of malignancy in a patient with mixed gonadal dysgenesia is extremely rare.
ABSTRACT
Short stature and gonadal dysgenesis are two characteristic clinical features of Turners syndrome. Very rarely, patients with Turners syndrome may menstruate and even be fertile. We experienced a case of Turners syndrome with spontaneous sexual development and menstruation. A 16-year-old girl was referred for severe anemia and menometrorrahgia. She had nearly normal features, with the exception of a short stature and a single right kidney. Also, she had spontaneous development of secondary sexual characteristics. We performed and anemia study and evaluated her short stature. In chromosomal study of her bone marrow and peripheral blood lymphocytes, she was revealed to have monosomy 45,X. Herein, this case is reported, with a brief review of literature