1/19. Turner's syndrome mosaicism 45X/47XXX: an interesting natural history.mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/19. del(X)(p22.1)/r(X)(p22.1q28) Dynamic mosaicism in a turner syndrome patient.We report on a 16-year-old patient with turner syndrome who presented a mos 46,X,del(X)(p22.1)[35]/45,X [19]/46,X,r(X)(p22.1q28)[6]GTG-band karyotype. The R-banding showed that the abnormal X-chromosome was inactive in all 61 cells analyzed. fluorescence in situ hybridization with a Xp/Yp subtelomeric probe revealed that both abnormal chromosomes lacked the complementary sequences, a fact consistent with a terminal deletion. Besides, the molecular analysis of the human androgen receptor gene showed that the rearranged chromosome was paternal in origin. Since the deleted and the ring chromosomes had the same size and banding pattern, and because the former was the predominant cell line, it was inferred that the Xp- formed a ring in some cells apparently without further loss of genetic material. However, the reverse sequence and even a simultaneous origin due to a complex intrachromosomal exchange are also conceivable. The mild Turner syndrome phenotype is explained by the mosaicism and by the size of the deleted segment.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/19. Embryonal carcinoma arising in Turner's syndrome.risk of malignant transformation in a dysgenetic gonad is high. This is a report of a 23 year-old female who presented with symptoms and signs of ovarian neoplasm which was histologically confirmed as embryonal carcinoma. She had features of Turner's syndrome and was found to have XO chromosomal constitution. Embryonal carcinoma arising in a dysgenetic gonad is uncommon. It is even rarer when it arises in a patient with pure 45 XO. The following is a case report which highlights the role of chemotherapy and surgery in the management. It includes a literature review on the clinical features, genetic variants and malignant transformation in dysgenetic gonad. The role of prophylactic removal of dysgenetic gonad is discussed.- - - - - - - - - - ranking = 1.3275716086068keywords = neoplasm (Clic here for more details about this article) |
4/19. Endometrial adenocarcinoma without prior hormone replacement in a diabetic patient with gonadal dysgenesis.patients with dysgenetic gonads and turner syndrome are unlikely to develop endometrial carcinoma unless they have received unopposed estrogen replacement therapy. This case describes a 54-year-old woman with turner syndrome and primary amenorrhea who developed adenocarcinoma of the endometrium without having received hormone replacement. Vaginal bleeding, a pelvic mass, and sepsis were the presenting symptoms. The patient also had diabetes mellitus and hypothyroidism. Polyglandular endocrine patterns are known to occur with a high frequency in these patients. The woman's chromosome studies revealed a modified 46,X,i(Xq) (isochromosome X). This is the first report of an isochromosome X patient to develop endometrial cancer without receiving estrogen replacement. The etiology of this rare case may be an increased propensity for patients with X-chromosome deletions to develop neoplasms in general, or extragonadal estrogen production.- - - - - - - - - - ranking = 1.3275716086068keywords = neoplasm (Clic here for more details about this article) |
5/19. Anesthetic management of turner syndrome: a systematic approach.turner syndrome is a complex and common genetic disorder that affects women and is associated with a wide variety of anatomic and physiological disorders. These abnormalities, especially those relating to the airway and cardiovascular system, pose a challenge to the anesthesiologist. We report a case of turner syndrome associated with mental retardation and difficult airway, followed by a discussion of the perioperative management and review of the relevant literature. We also provide a concise tabular summary of the many problems associated with turner syndrome and give guidelines for a systematic perioperative approach.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
6/19. Molecular analysis of an idic(Y)(qter -->p11.32::p11.32-->qter) chromosome from a female patient with a complex karyotype.A female patient with a structurally abnormal idic(Y) (p11.32) chromosome was studied using fluorescence in situ hybridization and PCR to define the precise position of the breakpoint. The patient had a complex mosaic karyotype with eight cell lines and at least two morphologically distinct derivatives from the y chromosome. The rearrangement was a result of a meiosis I exchange between sister chromatids at the pseudoautosomal region, followed by centromere misdivision at meiosis II. Due to instability of the dicentric y chromosome, new cell lines later arose because of mitotic errors occurring during embryonic development. physical examination revealed a normal female phenotype without genital ambiguity, a normal uterus and rudimentary gonads which were surgically removed.- - - - - - - - - - ranking = 5keywords = complex (Clic here for more details about this article) |
7/19. Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with turner syndrome.blood samples of an 8-year-old girl with turner syndrome were examined using cytogenetic and molecular methods. Chromosomal analyses revealed a mosaic karyotype consisting of 25% 47,X,der(X), r(X) and 75% 46,X,der(X) cells. Southern blot hybridizations with Y-specific dna probes excluded a Y chromosomal origin of the small ring chromosome. in situ hybridization using DNA probe pXBR showed it to be X-derived. Examination of C-, Q-, and R-banding patterns indicated that the der(X) chromosome probably arose by a translocation event.- - - - - - - - - - ranking = 4keywords = complex (Clic here for more details about this article) |
8/19. Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, southern hybridization and non-isotopic in situ hybridization.In two female patients with a 45,X/46,X, mar karyotype the marker chromosomes were identified as normal length nonfluorescent Y chromosomes (nlYnf) using non-isotopic in situ hybridization (NISH) complementary to routine cytogenetic analysis and Southern hybridization. The recognition of the nlYnf as isodicentric in both patients illustrates and confirms the usefulness and importance of NISH in the identification and characterization of this and many other types of complex chromosome rearrangements.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/19. Atypical polypoid adenomyoma of the uterus associated with Turner's syndrome. A report of three cases, including a review of "estrogen-associated" endometrial neoplasms and neoplasms associated with Turner's syndrome.The clinical and pathological features of three atypical polypoid adenomyomas of the uterus that were associated with Turner's syndrome are described. The patients, at least two of whom had been on long-term exogenous estrogens, were in their third decade and presented with abnormal vaginal bleeding. In two cases an exophytic mass protruded through the external os and clinically suggested a malignant tumor. The histological (and in one case, the ultrastructural) findings were similar to those of previously described cases of atypical polypoid adenomyoma. The clinical findings in these cases suggest that some atypical polypoid adenomyomas may be a complication of prolonged estrogenic stimulation. The association between Turner's syndrome and other gynecological neoplasms is reviewed.- - - - - - - - - - ranking = 11.948144477461keywords = neoplasm (Clic here for more details about this article) |
10/19. adenocarcinoma of the vagina in a patient with gonadal dysgenesis.adenocarcinoma of the vagina is an uncommon tumor. Many theories have been postulated for its etiology and tissue origin. Its occurrence in young women exposed in utero to diethylstilbestrol has pointed to estrogen influence as a possible etiologic factor. A case of adenocarcinoma of the vagina in a patient with gonadal dysgenesis is presented, and histologic and electron-microscopic observations are discussed. This patient is unique in that development of the vaginal neoplasm occurred in the absence of estrogen influence.- - - - - - - - - - ranking = 1.3275716086068keywords = neoplasm (Clic here for more details about this article) |
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