Cases reported "Amenorrhea"

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1/68. 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.
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2/68. Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.

    A large number of cases with supernumerary marker chromosomes (SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and unique sequence probes, as well as forward and reverse painting. We also report the first case, to the best of our knowledge, of an SMC derived from chromosome 5. Furthermore, a marker chromosome 20 in a patient with sex differentiation abnormalities, a double mar(6) in a boy with psychomotor retardation, and the association of r(19) with dup(21q21.2q22.12) are described. Although the mar(6) was very small, the presence of euchromatin was shown, suggesting that the partial trisomy of pericentric region derived sequences is implicated in the aetiology of the abnormal phenotypes.
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ranking = 12
keywords = chromosome
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3/68. Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.

    Paralogous sequences on the same chromosome allow refolding of the chromosome into itself and homologous recombination. Recombinant chromosomes have microscopic or submicroscopic rearrangements according to the distance between repeats. Examples are the submicroscopic inversions of factor viii, of the IDS gene and of the FLN1/emerin region, all resulting from misalignment of inverted repeats, and double recombination. Most of these inversions are of paternal origin possibly because the X chromosome at male meiosis is free to refold into itself for most of its length. We report on two de novo rearrangements of the X chromosome found in four hypogonadic females. Two of them had an X chromosome deleted for most of Xp and duplicated for a portion of Xq and two had the opposite rearrangement (class I and class II rearrangements, respectively). The breakpoints were defined at the level of contiguous YACs. The same Xp 11.23 breakpoint was found in the four cases. That of the long arm coincided in three cases (Xq21.3) and was more proximal in case 4 (Xq21.1). Thus class I rearrangements (cases 1 and 2) are reciprocal to that of case 3, whilst that of case 4 shares only the Xp breakpoint. The abnormal X was paternal in the three cases investigated. Repeated inverted sequences located at the breakpoints of rearrangements are likely to favour the refolding of the paternal X chromosome and the recombination of the repeats. The repeat at the Xp11 may synapse with either that at Xq21.3 or that at Xq21.1. These rearrangements seem to originate as the Xq28 submicroscopic inversions but they are identifiable at the microscopic level and result from a single recombination event.
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ranking = 11
keywords = chromosome
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4/68. [A second example of telomeric fusion 2 X chromosomes]

    A translocation which originated by telomeric "fusion" of X short arms, t(X;X), was found in a woman with primary amenorrhea and a phenotype corresponding partially to Turner's syndrome. Staining with acridine orange after BrdU incorporation showed the distal segments of both Xp's to be much more modified by the treatment than equivalent segments of normal late replicating X's. This could mean important inactivation of segments usually active even in late replicating X's. This functional monosomy for X would have a clinical effect similar to a true monosomy.
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ranking = 4
keywords = chromosome
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5/68. Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation.

    We have analysed the spread of X inactivation in an individual with an unbalanced 46,X,der(X)t(X;10)(q26.3;q23.3) karyotype. Despite being trisomic for the region 10q23.3-qter, both the proband and her aunt with the same karyotype presented only with secondary amenorrhoea and lacked any features normally associated with trisomy of distal 10q. Cytogenetic and molecular studies showed that the derivative X;10 chromosome was exclusively inactive. Transcribed polymorphisms were identified in five genes contained within the translocated region of chromosome 10 and were used to perform allele-specific transcription studies. We showed that four of the genes studied are inactive on the derivative chromosome, directly demonstrating the spread of X inactivation over some 30 Mb of autosomal dna. However, the most distal gene examined remained active, indicating that this spreading was incomplete. In contrast to the gene expression data, replication timing studies showed no spreading of late replication into the translocated portion of 10q. We conclude that silencing of autosomal genes by X inactivation can occur without a delay in the replication timing of the surrounding chromatin. Our findings support the hypothesis that autosomal chromatin lacks certain features present on the X chromosome that are required for the effective spread and/or maintenance of X inactivation.
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ranking = 4
keywords = chromosome
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6/68. 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.
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ranking = 2
keywords = chromosome
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7/68. Ovarian dysgenesis with balanced autosomal translocation.

    Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11. The probable role of autosomal translocations in ovarian dysgenesis has been discussed.
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keywords = chromosome
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8/68. 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.
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ranking = 5
keywords = chromosome
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9/68. Primary amenorrhea in a black female with duplication and inversion of the secondary constriction regions of chromosome 9.

    A 36-yr-old black female presented with primary amenorrhea. The chromosomal constitution based on QFQ (Q bands by fluorescence using quinacrine) RFA (R bands by fluorescence using acridine orange), GTG (G band by Giemsa using trypsin), and CBG (C band by Giemsa using barium hydroxide) techniques was 46, XX, duplicated (9; q12), inverted (9; p12q12.1) in lymphocytes and skin fibroblasts. Both sex chromosomes were normal. Buccal smear revealed 22% Barr bodies. Duplication and inversion of secondary constriction regions of chromosome 9 may possibly be associated with abnormal clinical features.
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ranking = 6
keywords = chromosome
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10/68. 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.
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ranking = 7
keywords = chromosome
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