1/12. gonadal dysgenesis and Rokitansky syndrome. A case report.BACKGROUND: Primary amenorrhea and lack of sexual development occur in gonadal dysgenesis due to missing ovaries. Primary amenorrhea with sexual development occurs in Rokitansky syndrome due to absence of the uterus, with normal ovarian function. The association of these two conditions has been previously described as a rare event. CASE: A 19-year-old woman presented with primary amenorrhea and lack of secondary sexual characteristics. physical examination confirmed the absence of mammary development and of pubic and axillary hair. Pelvic ultrasound disclosed absence of the uterus and ovaries. Gonadotropin serum levels were in the menopausal range, and the karyotype showed two mosaic cell lines, 45,X/46,Xdic(X). Scanning of a large number of cells by interphase fluorescence in situ hybridization showed 12% of cells with a dicentric x chromosome. Laparoscopic study confirmed the absence of the uterus and ovaries, with normal fallopian tubes. CONCLUSION: This patient had two anomalies affecting reproductive performance, gonadal dysgenesis and congenital absence of the uterus, the first associated with an abnormal karyotype; the second seems to have occurred coincidentally. At this time there is no treatment for the reproductive dysfunction.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/12. Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome.OBJECTIVE: To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. DESIGN: Case report. SETTING: Unit of endocrinology, Fundacion Hospital Alcorcon. Madrid (spain). PATIENT: A 17-year-old woman who presented with primary amenorrhea and lack of mammary development. INTERVENTION(S): An endocrine study including pituitary, ovarian, adrenal, and thyroid evaluation was performed. Genetic study was done by karyotype and fluorescence in situ hybridization (FISH) analysis to detect the presence of y chromosome material. Bone study, intravenous urography, pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated genitourinary and skeletal anomalies. MAIN OUTCOME MEASURE(S): Anatomic, endocrine, and genetic description of the patient. RESULT(S): The gynecologic examination showed a normal vagina ending in a blind pouch. The endocrine evaluation disclosed gonadotropin levels in the menopausal range and nonautoimmune subclinical primary hypothyroidism. The laparoscopic study revealed a single pelvic kidney and an absence of gonads, fallopian tubes, and uterus. The karyotype was 46,XX; no y chromosome was found in FISH analysis. CONCLUSION(S): To our knowledge, this is the first report of gonadal agenesis 46,XX associated with the atypical form of MRKH syndrome. The primary hypothyroidism may be coincidental.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/12. Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype.We report on a 30-year-old woman with short stature, completely female external genitalia, primary amenorrhea, bilateral streak gonads, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Variable levels of mosaicism were found in blood and cultivated fibroblasts from both the skin and ovaries, with the percentage of the 45,X lineage never exceeding 33%. fluorescence in situ hybridization (FISH) was performed with alpha satellite centromere region probes of the X and Y chromosomes (DXZ1 and DXZ3) as well as with the unique-sequence, locus-specific, sex-determining region of the y chromosome gene (SRY) and the DXZ1 probes. Each signal was noted for DXZ1 on the x chromosome and for the Y probes on the marker chromosome. Molecular investigations with a panel of PCR markers spread over the whole y chromosome indicated a deletion breakpoint between sY 78 (interval 4) and sY 151 (interval 5F). No mutation of the high mobility group-box (HMG-box) of the SRY gene could be found following sequence analysis. The phenotype/genotype correlation demonstrates the broad phenotypic range of low-level 45,X mosaicism with the resultant short stature and external female phenotype, despite the presence of SRY in a high proportion of cells in various tissues.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/12. Identification of a neocentromere in a rearranged y chromosome with no detectable DYZ3 centromeric sequence.An 18-year-old woman was evaluated because of primary amenorrhea and hypogonadism. Chromosome analysis from peripheral blood lymphocytes revealed a nonmosaic 46,X, mar constitution. The marker was shown to be a rearranged y chromosome consisting of an inverted duplication of the long arm: rea(Y)(qter-q11::q11-qter). Deletion mapping analysis with Y-specific STS showed that the marker lacked Yp and Y-centromeric (DYZ3) sequences, but it was positive for Yq sequences tested. fluorescence in situ hybridization analysis with Y and x chromosome centromeric and pancentromeric probes showed no hybridization signals. The marker chromosome is present in 100% of the cells; therefore, it is mitotically stable despite the absence of DYZ3 centromeric sequence. Hybridization with CENP-A and CENP-C specific antibodies localized a neocentromere close to the breakpoint.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
5/12. Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24.OBJECTIVE: To characterize a complex chromosome rearrangement (CCR) previously detected by G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X, mar 1 mar2 mar3 mar4 in a patient with primary amenorrhea. DESIGN: Case report. SETTING: University faculty of medicine and hospital. PATIENT(S): A 36-year-old woman with primary amenorrhea. INTERVENTION(S): fluorescence in situ hybridization (FISH). MAIN OUTCOME MEASURE(S): Use of commercially available M-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. RESULT(S): The use of conventional and multiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G-banding and FISH data revealed that four chromosomes and seven breakpoints, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR. CONCLUSION(S): This report confirms the importance of a combination of G-banding and FISH (M-FISH and conventional FISH) techniques to characterize the de novo CCR. These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/12. Swyer syndrome with SRY y chromosome and rudimentary internal genitalia demonstrating temporary action of antimullerian hormone in utero: a case report.BACKGROUND: XY gonadal dysgenesis is characterized by streak gonads in phenotypic females without somatic abnormalities. This case demonstrated a hypoplastic uterus, an unlikely finding for the syndrome, suggesting insufficient function of antimullerian hormone prenatally. CASE: A 20-year-old, female virgin was first seen 2 years earlier complaining of primary amenorrhea. She was 168 cm tall, and secondary sexual characteristics, such as breast development and pubic and axillary hair, were absent on physical examination. Chromosome analysis with fluorescence in situ hybridization revealed 46,XY, and a molecular investigation was undertaken to assess the possibility of a mutation in SRY through dna sequencing. SRY mutations were absent. Bilateral laparoscopic removal of dysgenetic gonads was performed at another medical center immediately after genetic confirmation for an increased risk of malignancy. When the patient was seen 1 year later, we performed ultrasonography because of no menstrual outflow. Pelvic ultrasonography revealed a hypoplastic uterus (26 x 12 mm) with a rudimentary cervix. CONCLUSION: Clinical phenotypes of different mutations of the y chromosome, particularly on SRY, may cause Swyer syndrome patients to have a uterus with fertility potential after oocyte donation.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/12. Somatotropic adenomas without acromegaly.Seventeen somatotropic adenomas removed from patients without acromegaly were studied. Thirteen of them presented as a prolactinoma with amenorrhea and/or galactorrhea and elevated serum PRL levels. According to basal serum GH levels, the patients were divided into two groups, namely Group I: GH slightly elevated (n = 4) and group II: GH less than or equal to 5 micrograms/l (n = 13). The tumoral GH secretion was proved by immunocytochemistry in all cases and by intratumoral RIA, in vitro study and/or in situ hybridization in five of them. Pathological, clinical and biochemical relationships suggested two anatomoclinical aspects. In group I, the tumors were small, well-differentiated somatotropic adenomas with clinically silent GH hypersecretion. It is probably an early stage of the disease. In group II, the tumors were large with normal GH serum levels. They were poorly differentiated and secreted very low amounts of GH. In nine of them, PRL and/or PRL mRNA expression were also detected. These tumors do not secrete enough GH to increase serum levels and cause acromegaly. The somatotropic adenomas without acromegaly correspond to two anatomoclinical aspects of the disease.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/12. A unique dicentric X;Y translocation with Xq and Yp breakpoints: cytogenetic and molecular studies.A 32-year-old woman presented with secondary amenorrhea and infertility. She was of normal height and her breasts were well developed, but she had streak gonads; there were no signs of virilization, and she showed no somatic stigmata of turner syndrome. Chromosome analysis revealed a dicentric X;Y translocation with Xq and Yp breakpoints. Centromeric banding demonstrated a Y centromere and a "suppressed" X centromere. The karyotype of the patient was interpreted as 46,X,t(X;Y)(q22;p11). The Yp breakpoint was confirmed by dna-hybridization studies with six probes detecting Y-specific sequences. These dna-hybridization studies were consistent with the presence of the long arm, centromere, and much of the proximal short arm of the Y. The Y-dna studies of this female also revealed the absence of the distal short arm of the y chromosome, to which the testis-determining factor has previously been localized.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
9/12. De novo X/X translocation in a patient with secondary amenorrhea.A 46,X,t(X;X) (qter-->p22;;p22-->qter) karyotype was found in the chromosome analysis of a 22 years old female patient with secondary amenorrhea. Further analysis with fluorescence in situ hybridization indicated that the marker chromosome had one active and one inactive centromere originating from the x chromosome. RBG-banding showed that the derivative x chromosome was preferentially inactivated in cultured lymphocytes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/12. Mapping of the distal boundary of the X-inactivation center in a rearranged x chromosome from a female expressing XIST.A female patient with primary amenorrhea, immature secondary sexual characteristics, and tall stature was found to have a normal x chromosome and a rearranged X [rea(X)] chromosome that resembled an 'isochromosome' Xp, but retained the proximal portion of Xq. The rea(X) was interpreted as rec(X)dup p,inv(X)(p11.4q13). Replication studies demonstrated that the rea(X) was always the late-replicating and, therefore, presumably inactive x chromosome, which must contain the X-inactivation center. Consistent with this interpretation, fluorescence in situ hybridization demonstrated that the rea(X) retained the XIST gene, and reverse transcription polymerase chain reaction analysis showed that XIST was expressed in the patient's cells. By fluorescence in situ hybridization with previously mapped probes, the breakpoint of the rea(X) was located within an approximately 500-kb region located approximately 200 to 700 kb distal to the XIST locus. This is the closest breakpoint distal to XIST in an inactivated x chromosome and, therefore, defines a new distal boundary for the X-inactivation center in humans.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
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