Cases reported "Gonadal Dysgenesis"

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1/20. A frame shift mutation in the dna-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mullerian structures, and germ cell tumors in dysgenetic gonads.

    OBJECTIVE: To describe the molecular, cytogenetic, immunohistochemical, and endocrinologic characteristics of a young 46,XY female with persistent mullerian structures and germ cell tumors in dysgenetic gonads. DESIGN: Descriptive case study. SETTING: Mackay Memorial Hospital and National Yang-Ming University, Taipei, taiwan. PATIENT(S): A 22-year-old 46,XY female with persistent mullerian structures, a low level of serum testosterone, and no apparent adnexal masses. INTERVENTION(S): Laparoscopic removal of the dysgenetic gonads. MAIN OUTCOME MEASURE(S): Detection of an androgen receptor gene mutation by a semiautomated dna sequencer, of the chromosomal complement by cytogenetic examination, of placental alkaline phosphatase activity by immunohistochemical analysis, and of neoplasms in dysgenetic gonads by histologic studies. RESULT(S): A unilateral gonadoblastoma and a contralateral gonadoblastoma associated with a dysgerminoma were found in the excised gonads. The tumors had a 46,XY complement. Placental alkaline phosphatase was present in the tumor cells. A frameshift mutation in the dna-binding domain of the androgen receptor gene was detected in the patient's blood and the tumor tissues. A five-nucleotide "AGGAA" deletion at codons 608 and 609 of the androgen receptor gene resulted in a missing arginine and lysine as well as a frameshift that introduced a stop codon 12 amino acid downstream from the mutation. CONCLUSION(S): Molecular genetic analysis of the androgen receptor gene aids in the rapid diagnosis of complete androgen insensitivity irrespective of atypical clinical phenotypes and endocrinologic parameters.
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keywords = dysgerminoma
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2/20. XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.

    We report a 46,XY 11-year-old girl with pure gonadal dysgenesis who developed a dysgerminoma. The testis-determining gene SRY, a candidate for sex reversal, whose alterations seem to correlate with dysgerminoma, was analyzed and found to be normal; its coding sequence was negative for deletions and mutations. DMRT-1 gene mapping on 9p and DAX-1 on Xp21 were also normal. These results suggest the involvement of other genes in sex reversal and call into question the putative relationship between SRY alterations and dysgerminoma.
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keywords = dysgerminoma
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3/20. Familial 46,XY pure gonadal dysgenesis and gonadoblastoma/dysgerminoma: case report.

    The case reports of two sisters admitted for evaluation of primary amenorrhea are presented. Gynecological and endocrinological investigations and chromosomal analysis led to the diagnosis of familial 46,XY gonadal dysgenesis. Both sisters underwent bilateral salpingo-oophorectomy and hysterectomy. Histological examination revealed dysgenetic gonads with gonadoblastoma and dysgerminoma. Five years after treatment by surgery and irradiation the patients are well and free of recurrence. These cases again confirm the risk of malignancy and the necessity of prophylactic gonadectomy in all patients with gonadal dysgenesis and Y chromosomal material.
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keywords = dysgerminoma
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4/20. In-vivo and in-vitro endocrine investigation of pure gonadal dysgenesis.

    diagnosis of XY pure gonadal dysgenesis was established in a patient of female phenotype, with female internal genitalia, but with a chromosomal constitution of 46 XY. Streak gonads had undergone neoplastic transformation--gonadoblastoma and dysgerminoma. Before operation the concentrations of gonadotrophins in plasma were high and of oestradiol was low. Administration of oestradiol benzoate initially suppressed and then stimulated an increase in the plasma concentration of LH. These changes were not accompanied by changes in blood levels of endogenous sex steroids. A single injection of hCG failed to stimulate steroid secretion. The activities in vitro of steroid-metabolizing enzymes in the dysgenetic gonadal tissue more closely resembled those of ovarian tissue from a premenopausal and from a postmenopausal women than those in testes from two androgen-insensitive patients. However, aromatase activity was higher in the dysgenetic gonads than in the pre or post-menopausal ovaries. Examination of enzymes in genital skin fibroblasts demonstrated normal activities of 3 alpha/beta-beta-hydroxysteroid dehydrogenase and 17 beta-hydroxysteroid dehydrogenase (oxidative and reductive directions). However, 5 alpha-reductase activity was low in minces and fibroblasts of genital skin from the patient. Androgen binding was within the range for male controls.
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5/20. A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.

    A case of XY gonadal dysgenesis with renal failure is presented. diagnosis was delayed four years post renal transplantation. A uterus, fallopian tubes, and vagina were present with a combined gonadoblastoma and dysgerminoma found in the right streak gonad. Six other similar cases have been reported, including concordance in a pair of monozygous twins. Because of the risk of gonadal malignancy, the serum FSH concentration should be determined in phenotypic females with primary amenorrhea and chronic renal disease. Due to a physiologic reduction in the serum FSH concentration in agonadal individuals between 5 and 11 years of age, a karyotype may be required to detect affected individuals during this interval. Gonadectomy should be performed in all cases of XY gonadal dysgenesis. A urinalysis and serum creatinine concentration should be obtained in girls presenting with XY gonadal dysgenesis. The serum FSH concentration and karyotype should be determined in females presenting with congenital nephrotic syndrome.
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6/20. 46,XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development?

    Among women with 46,XY gonadal dysgenesis, there is a high incidence of gonadal tumors. Because of evidence of a connection between occurrence of those tumors, H-Y phenotype, and breast development, we surveyed 55 cases of 46,XY gonadal dysgenesis and 12 related cases involving chromosomal and/or skeletal abnormalities. Our survey, including three new cases presented here, indicates that H-Y phenotype but not breast development may be related to the development of the gonadoblastoma-dysgerminoma. Thus among women with 46,XY gonadal dysgenesis, there are H-Y- and H-Y classes, but gonadal tumors are found almost exclusively in the H-Y class. Yet one of our patients may represent an exception to the association of H-Y phenotype and gonadal tumors in this syndrome.
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7/20. Mixed gonadal dysgenesis, pathogensis, and management.

    Fourteen patients with Mixed gonadal dysgenesis who presented as infants or children are discussed. Gonadal asymmetry, and/or sex chromosomal mosaicism, as well as retained mullerian ducts characterize the anomaly. The dysgenetic testis may occur as the result of a cascade of development mishaps stemming from abnormalities of h-y antigen expression or function that lead to abnormal differentiation of the indifferent urogenital ridge and, in turn, to aberrant production of Mullerian inhibiting Substance and testosterone. The latter two cause retention of mullerian ducts and incomplete masculinization of the external genitalia. Absence of a second x chromosome may lead to the formation of a streak ovary, in which the dysgenetic testis may invoke formation of hilar and medullary cords. Neoplastic transformation, so characteristic of this group of patients, may result from unprotected germ cells and abnormally high and prolonged gonadotropin stimulation. gonadoblastoma and seminoma-dysgerminomas are the tumors found in the gonads with the risk exceeding 50% as the third decade is approached. Laterality of the gonads in this anomaly remains an enigma. The gonads should be removed at birth if possible and the external genitalia repaired soon thereafter. These patients should be raised as females. The risk of neoplastic transformations must be considered at all stages of management.
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keywords = dysgerminoma
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8/20. Complete development of secondary sex characteristics in a case of 46,XY pure gonadal dysgenesis.

    Although pubertal development is unusual in 46,XY gonadal dysgenesis, it may occur in association with gonadal tumors. The authors report a case of 46,XY gonadal dysgenesis in a 17-year-old girl remarkable for H-Y phenotype and bilateral gonadoblastomas accompanied by dysgerminomatous change and nearly complete female secondary sex development. Endocrinologic activity of the gonads was indicated by marked decrease in sex steroid production after gonadectomy. Occurrence of gonadal neoplasia in this case is consistent with the observation that neoplastic transformation is likely in H-Y cases of 46,XY gonadal dysgenesis.
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keywords = dysgerminoma
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9/20. XY gonadal dysgenesis with gonadoblastoma and dysgerminoma.

    We present the clinical and endocrine findings in the case of a phenotypic woman with XY karyotype and gonadal dysgenesis. An examination of the gonads revealed bilateral gonadoblastomas, the right one almost completely replaced by a massive dysgerminoma.
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ranking = 5
keywords = dysgerminoma
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10/20. 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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