1/25. Case report: Teenage girl with proteinuria and amenorrhea.Recent research has advanced the understanding of many diseases to a molecular level. Described here is the case of a teenage girl with proteinuria and primary amenorrhea. We present the current knowledge of her underlying disorder, Frasier syndrome, and its genetic basis, which are specific mutations in the wilms tumor gene. The findings in frasier syndrome research are contrasted with those of a related disorder, denys-drash syndrome, which is caused by different mutations in the same gene.- - - - - - - - - - ranking = 1keywords = amenorrhea (Clic here for more details about this article) |
2/25. Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype.An asymptomatic woman (age 38 years) with a family history of ovarian malignancies was referred for presymptomatic genetic testing of mutations in the BRCA genes. A familial Swyer syndrome with the occurrence of dysgerminomas is the most likely diagnosis. However, in our case, all known causes of this heterogeneous disorder have been excluded pointing to the existence of another yet unknown genetic locus. The family history revealed three affected paternal aunts. Two of them developed ovarian malignancies at 13 and 15 years of age, and died at ages 19 and 20. The third aunt, 82 years old, was affected by this disease at the age of 35. She underwent hormonal treatment for 3 years starting at the age of 15 because of primary amenorrhea. Under this treatment she developed nearly complete secondary sexual characteristics. karyotype analysis revealed a normal male karyotype (46 XY, QFQ). Pelvic ultrasound showed an uterus of normal size, incompatible with an androgen resistance syndrome or a defect in testosterone biosynthesis. We excluded a mutation in the sex-determining region on chromosome Y (SRY) by direct sequencing of the SRY gene. An involvement of the subtelomeric region of chromosome 9p (9p 24.3) recently reported to be involved in XY-sex reversal phenotypes was excluded by molecular testing for loss of heterozygosity as well as fluorescence in situ hybridization studies. Analyses of the DAX1 gene in the dosage sensitive sex reversal locus on chromosome Xp21 by Southern blot analysis showed no duplications.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
3/25. gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of frasier syndrome.STUDY OBJECTIVES: To report a rare reason for primary amenorrhea, a frasier syndrome, XY gonadal dysgenesis associated with renal failure with eventual development of gonadoblastoma. To study immunohistochemical analysis of gonadoblastoma and dysgerminoma. To analyze the possibility of androgen receptor mutation in this rare syndrome. methods: We report a case of a 16-yr-old female with this syndrome. She underwent a laparoscopic bilateral gonadectomy and salpingectomy. A histopathological examination revealed gonadoblastoma with focal malignant dysgerminoma in the left dysgenetic gonad and an immunohistochemical of these fairly rare, malignant tumors. An androgen receptor was coded. Analysis was done. RESULTS: Immunohistochemical analysis showed that inhibin was strongly positive in gonadoblastoma but negative in dysgerminoma. No mutations of the androgen receptor gene were found. CONCLUSIONS: Inhibin positivity in gonadal stroma and in gonadoblastoma may indicate hormonal activity causing advanced puberty in patients with XY gonadal dysgenesis.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
4/25. An XY female with Mullerian duct development and persistent Wolffian duct structures.Disorders of sexual differentiation are usually diagnosed at an early age. We hereby describe a case of a 29-year-old phenotypic woman who during the evaluation of amenorrhea was found to have a 46, XY karyotype. Further evaluation (including laparoscopy) suggested that she presented a variant of gonadal dysgenesis, with the particularity of having well-developed mullerian structures and testicular remnants alongside a steroid-producing gonadoblastoma.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
5/25. A case of gonadal dysgenesis, breast development, Graves' disease, and low bone mass.OBJECTIVE: To describe a case of XY gonadal dysgenesis with Tanner stage 4 breast development in the absence of a hormone-producing gonadal neoplasm and with Graves' disease and low bone mass. methods: The clinical features, laboratory results, and cytogenetic findings in the patient are presented, and the potential mechanisms of breast development are discussed. A medline search was performed, and related articles in the English-language literature published between 1955 and 2001 were reviewed. RESULTS: A 23-year-old African American woman was referred to the University of Louisville Hospital for evaluation of hyperthyroidism. About 4 months before this referral, hyperthyroidism was diagnosed, and treatment with methimazole was initiated. She continued to have thyrotoxicosis. Additionally, systemic review disclosed a history of primary amenorrhea. physical examination revealed a tall phenotypic female patient with Tanner stage 4 breast development. Pelvic examination showed normal findings except for sparse pubic hair. Laboratory evaluation confirmed the diagnosis of Graves' disease as well as primary gonadal failure. Pelvic ultrasonography revealed a small uterus and bilateral adnexal masses (0.9 by 0.6 cm). On chromosomal analysis, a 46,XY karyotype was found. Further analysis of Y-dna by polymerase chain reaction confirmed the presence of an intact y chromosome, and no microdeletions were identified. Dual-energy x-ray absorptiometry demonstrated a Z-score of -4.7 and -4.2 at the lumbar spine and right hip, respectively. Graves' disease was successfully treated with (131)I. laparoscopy was performed to resect streak gonads. On histologic examination, no typical ovarian, testicular, or neoplastic tissue was identified. The breast development in this patient remains unexplained. CONCLUSION: To the best of our knowledge, this is the first case report of a tall XY female patient with breast development in the absence of a hormone-producing gonadal neoplasm and without clearly identifiable gonads. breast development was most likely related to estrogens, possibly produced by either streak gonads at the time of puberty or peripheral conversion of androgens, or to increased sensitivity of breast tissue to estrogens. Graves' disease is likely coincidental and could contribute to bone loss in such subjects.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
6/25. 46, XY agonadism associated with adrenal adenoma/myelolipoma: report of a case analyzing Y-chromosome-specific sequences.A unique patient with 46, XY agonadism associated with adrenal adenoma/myelolipoma is described. The patient was an 18-year-old female with primary amenorrhea, lack of secondary sexual development and an aldosterone-producing adrenocortical adenoma associated with foci of myelolipoma. Molecular analyses of Y-chromosome-specific regions, including automated sequencing of the entire coding region of SRY, the Y-linked testis-determining gene, were performed. Our results excluded the possibility that a mutation in SRY was responsible for this unusual clinical combination.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
7/25. risk of malignancy in bilateral streak gonads: the role of the y chromosome.Although girls with Turner's syndrome (45,X) are not at risk for malignancy, patients with feminizing testicular syndrome with XY chromosome composition and patients with "mixed gonadal dysgenesis" are at risk for malignancy, and bilateral gonadectomy is performed. We have treated seven girls with "Turner-like" syndrome, who we believe are also "at risk" for development of malignancy and in whom gonadectomy should be performed. We present seven cases of phenotypically typical females, without sexual ambiguity, who presented with primary amenorrhea and short stature (5) and/or minor dysmorphic features (2). Chromosome analysis showed 45,X karyotype plus a fragment that we could not rule out as being part of a y chromosome (in one patient a complete y chromosome). In two patients, the fragment was subsequently positively identified as a Y, using a dna probe. In view of the known high incidence of development of gonadoblastoma in the dysgenetic gonads of phenotypic females with a y chromosome, bilateral gonadectomy was performed in these girls. Bilateral genital streaks with normal uterus and fallopian tubes were found in all patients. In two patients unsuspected gonadoblastoma, without metastases, was found. In five cases, Leydig cells and tubular structures resembling rete testes were found, cells that are associated with Y-chromosomal tissue. We stress the need for complete chromosomal evaluation of phenotypically female patients with primary amenorrhea or features of Turner's syndrome. If a y chromosome or the possibility of a y chromosome cannot be excluded, gonadectomy should be performed because of the risk of malignancy.- - - - - - - - - - ranking = 0.4keywords = amenorrhea (Clic here for more details about this article) |
8/25. Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome).46,XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We describe a case of an 18 years old patient presented to us with a chief complain of primary amenorrhea. Chromosomal analysis revealed a 46,XY karyotype. A molecular investigation was undertaken in an attempt to determine mutations in SRY and AR genes through dna sequencing. Mutations were shown to be absent. The molecular basis of Swyer syndrome is still unknown, although the presence of mutations in testicular organizing genes downstream of SRY is still to rule out. The patient, who is considered as female, was placed on estrogen replacement therapy, while bilateral prophylactic laparoscopic gonadectomy was programmed due to the high prevalence of gonadal tumors in this syndrome. No signs of malignance were detected in the gonadal tissue, which predicts that an intact SRY gene is usually, but not always, not related to the formation of malignancies like dysgeminomas or gonadoblastomas.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
9/25. Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome.Dysgenetic streak gonads were removed laparoscopically from a phenotypic female with Swyer syndrome (ie, XY karyotype, sexual infantilism, primary amenorrhea, and mullerian structures). Pathologic examination revealed a small (3 mm) gonadoblastoma in one of her gonads without evidence of malignant transformation. The patient tolerated the procedure well and was back at work the next day. We propose that laparoscopy is a safe, cost-effective, and simple procedure to perform on individuals requiring prophylactic gonadectomy for the prevention of neoplasia.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
10/25. gonadal dysgenesis with no uterus or vagina in a female. A case report.An 18-year-old girl presented with primary amenorrhea and absence of secondary sexual characteristics. She had gonadal dysgenesis, clitoromegaly, absence of the vagina and a 46,XY chromosome pattern.- - - - - - - - - - ranking = 0.2keywords = amenorrhea (Clic here for more details about this article) |
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