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Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-731966

RESUMO

Dysgerminomas are the most common type of malignant germ cell tumor. It primarily occurs in women under age thirty. Five percent of cases occur in phenotypic females with dysgenetic gonads.?This paper presents a phenotypically female patient with hypogastric mass and primary amenorrhea. Eight months prior, patient underwent left salpingo- oophorectomy. Physical examination showed? absent secondary sexual characteristics along with normal external female genitalia. Intra-operative findings at that time confirmed the presence of a uterus along with absent right ovary. Hormonal studies revealed increased gonadotropin levels, decreased estrogen and female testosterone levels. Serum LDH was elevated. Karyotyping revealed XY chromosome. Pure gonadal dysgenesis is characterized by abnormal testicular determination. The syndrome, as described by the Swyer in 1955, presents the complete form of "pure" gonadal dysgenesis. This involves the association of the female phenotype, female internal genitalia, normal or tall statue and sexual infantilism with primary amenorrhea. These patients have streak gonads that do not secrete testosterone or Mullerian inhibiting factor, and therefore Mullerian derivatives develop.?


Assuntos
Humanos , Feminino , Adulto Jovem , Disgerminoma , Amenorreia , Hormônio Antimülleriano , Infantilismo Sexual , Disgenesia Gonadal , Síndrome de Turner , Cromossomos
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