Cases reported "Amenorrhea"

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1/4. Pure XY gonadal dysgenesis presenting as secondary amenorrhea. A case report.

    Secondary amenorrhea developed after two years of normal menstruation. On investigation, the patient's karyotype was 46,XY, the serum testosterone and free androgen index were elevated, and bilateral gonadoblastomas and dysgerminomas were found in the gonads. The uterus, fallopian tubes and vagina were normal. The gonads were removed and chemotherapy given because of lymphadenopathy.
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ranking = 1
keywords = dysgerminoma
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2/4. Case report of dysgerminoma in a patient with 46,XX pure gonadal dysgenesis.

    A clinicopathological study of a 42-year-old female with pure gonadal dysgenesis and dysgerminoma was made. At the age of 29, the patient with primary amenorrhea had been evaluated clinically and cytogenetically. (1) The results of cytogenetic studies were X-chromatin positive and revealed a karyotype in peripheral blood leukocytes of 46,XX. (2) Laboratory studies indicated hypergonadotropic hypogonadism and no response of the gonads to the human menopausal gonadotropin stimulation test. (3) At laparotomy, the gonads were streak-like. Pathological examinations of biopsy specimens from both gonads revealed dense, fibrous connective tissue resembling ovarian stroma and no primary follicles. Eleven years after the laparotomy, the patient complained of lower abdominal distention and severe pain, and laparotomy then revealed a 15 X 17-cm right solid adnexal mass occupying the pelvic cavity. The histological diagnosis of tissues from the partially removed tumor was pure dysgerminoma. Second-look operation after Linac X-ray irradiation showed complete remission of the residual tumor. Insofar as we are aware, the present patient represents the first case of dysgerminoma which occurred in the dysgenetic gonads of a phenotypic female with normal 46,XX sex-chromosomal constitutions in peripheral blood leukocytes and the skin fibroblasts although a possibility exists that mosaicism was possibly present but undetected, particularly since the streak gonads were not analyzed chromosomally.
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ranking = 7
keywords = dysgerminoma
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3/4. Spontaneous pregnancy after 13 years of amenorrhea in a patient with a voluminous ovarian dysgerminoma and submitted to left adnexectomy and radiotherapy.

    The authors illustrate the case of a 17-year-old patient who was submitted to left adnexectomy in view of an ovarian dysgerminoma 24 cm in diameter and weighing 2,800 g. She was subsequently submitted to two cycles of radiotherapy. Following a period of amenorrhea lasting 13 years and characterized by high serum levels of gonadotropins, the patient had a spontaneous pregnancy and at 33 weeks of gestation delivered a live and vital fetus. Therefore the occurrence of post-radiotherapy amenorrhea, characterized by high serum gonadotropin levels, should not always be considered pathognomonic of precocious menopause. The possibility that radiotherapy causes only a temporary alteration in ovarian activity should also be taken into consideration.
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ranking = 5
keywords = dysgerminoma
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4/4. Familial occurrence of gonadal tumors in XY females with breast development.

    Three sisters with XY gonadal dysgenesis are presented. All of them have primary amenorrhea and breast development, and in two, a gonadal tumor, seminoma (dysgerminoma) was found. The danger of gonadal neoplasm in XY females with normal female build is emphasized.
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ranking = 1
keywords = dysgerminoma
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