Abstract
Female pseudohermaphroditism occurs when normal ovaries are present but the body is partially masculinized as individuals with congenital adrenal hyperplasia, also known as adrenogenital syndrome. This is an inherited disorder that accounts for about one-half of all cases of human intersexuality. We report a case of a 24-year-old male presenting with abdominal pain and increasing abdominal distension for one month. Computed tomography scan revealed large multiloculated heterogeneously enhancing solid –cystic lesion in the abdominopelvic cavity– malignant gonadal mass, gross ascites, and visualization of the poorly formed elongated uterus-like structure in the recto-uterine pouch and phallus-like structure with non-visualization of bilateral testes. Histopathology report suggested germ cell tumor and immunohistochemistry confirmed the diagnosis of dysgerminoma. Since dysgerminoma is sensitive to platinum-based chemotherapy patient was subjected to chemotherapy and the patient showed a good response. The patient underwent exploratory laparotomy with right salpingo-oophorectomy with omentectomy and appendectomy.
Highlights
Submitted: 20th November 2020 Accepted: 18th December 2020Source of Support: None Conflict of Interest: NoneCitation: Pun R, Pudasaini S, Mahaseth R, Shrestha K
Complete gonadal dysgenesis is characterized by a female phenotype, nonambiguous genitalia, the presence of Müllerian derivatives, gonadal dysgenesis, and a normal karyotype.[3]
One type of gonadal dysgenesis is female pseudohermaphroditism which is characterized by male or ambiguous genitalia coupled with a female karyotype (46 XX).[4]
Summary
Disorders of sex development (DSD) are congenital conditions characterized by atypical chromosomal, gonadal, or anatomical sex development.[1] In 2006, a consensus statement was issued that recommended the use of the DSD classification to replace various terms that are no longer utilized, such as pseudohermaphrodite, intersex, and sex reversal, among others.[2] Complete gonadal dysgenesis is characterized by a female phenotype, nonambiguous genitalia, the presence of Müllerian derivatives, gonadal dysgenesis, and a normal karyotype.[3] One type of gonadal dysgenesis is female pseudohermaphroditism which is characterized by male or ambiguous genitalia coupled with a female karyotype (46 XX).[4] External genitalia is masculinized congenitally when a female fetus is exposed to the excess androgenic environment. Congenital adrenal hyperplasia (CAH) mostly 21-hydroxylase deficiency, is the most common cause.[5] Ovarian dysgerminoma is the most common malignant neoplasm. It can be associated with gonadal dysgenesis (pure and mixed form).[6]. We present a case of dysgerminoma in pseudohermaphroditism.
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