scholarly journals Ovarian Gonadoblastoma with the Karyotype of 46, XX: A Case Report

2021 ◽  
Author(s):  
Fengju Zhao ◽  
Yingchao Zhao ◽  
Biyuan Xing ◽  
Zhao Liu
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Pelvic Mass ◽  
Peripheral Blood Lymphocytes ◽  
Normal Female ◽  
Pathological Analysis ◽  
Forkhead Box ◽  
Routine Physical Examination ◽  
Foxo Signaling Pathway ◽  
Chromosome Material

Abstract Gonadoblastoma is a rare tumor comprised of sex cord derivatives and germ cells. The risk for developing gonadoblastoma increases significantly in patients who possess a Y chromosome or Y chromosome material. A 49-year-old Chinese woman found a pelvic mass during a routine physical examination. Pathological analysis after surgery indicated that the tumor was unilateral ovarian gonadoblastoma with dysgerminoma. Compared with other cases in the literature, our patient was the oldest, and the tumor mass was smaller. Karyotype analysis of peripheral blood lymphocytes revealed that the woman had a 46, XX female karyotype. Whole-exon sequencing revealed that some mutations, such as altered somatic genes in the Forkhead box protein O (FoxO) signaling pathway and KIT, might cause the disease. In conclusion, we described a rare case of gonadoblastoma in a woman who had normal routine menstruation, sexual development, and successful pregnancies and possessed a normal female 46, XX karyotype.

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype

2021 ◽  
Author(s):  
Lindsey Guzewicz ◽  
Susan Howell ◽  
Canice E. Crerand ◽  
Hailey Umbaugh ◽  
Natalie J. Nokoff ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Clinical Phenotype ◽  
Monosomy X ◽  
Chromosome Material

Cytogenetics and sex determination in man and mammals

1970 ◽  
Vol 2 (S2) ◽  
pp. 7-30 ◽  
Author(s):  
C. E. Ford
Keyword(s):  
Y Chromosome ◽  
External Genitalia ◽  
Mutant Gene ◽  
Normal Female ◽  
Human Female ◽  
Present Evidence ◽  
Male Development ◽  
Sex Development ◽  
Internal Genitalia ◽  
Male External Genitalia

SummarySex in man and probably throughout the class mammalia is normally determined by the presence of a Y chromosome (male) or its absence (female). The presence of genetic loci on both the long and the short arm of the X chromosome in double dose appears to be essential for the development of mature functional ovaries in the human female though a single X suffices in the female mouse.The development of masculine genital anatomy and phenotype is a consequence of prior formation of testes. In the absence of gonads of either kind, female internal and external genitalia are formed but secondary sex development fails. In rare human families a mutant gene suppresses the development of male external genitalia in 46, XY embryos but permits the development of testes and male internal genitalia. The external phenotype is normal female (syndrome of testicular feminization). A sex-linked mutant gene in the mouse has a similar effect.The locus or loci directly concerned with male development might lie wholly on the Y chromosome or might be located on another chromosome or chromosomes. In the latter case it (or they) must be repressed in the female and normally activated by a locus or loci on the Y chromosome in the male. Present evidence does not permit the exclusion of either possibility.

scholarly journals Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

2008 ◽  
Vol 11 (2) ◽  
pp. 51-58
Author(s):  
A Lungeanu ◽  
A Arghir ◽  
S Arps ◽  
G Cardos ◽  
N Dumitriu ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Ambiguous Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Chromosome Y ◽  
Y Chromosomes ◽  
New Information ◽  
Pathway Perturbation

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner SyndromeKaryotype investigations using classical cytogenetics, fluorescencein situhybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

Case 11.10

2014 ◽  
pp. 546-546
Author(s):  
Christine U. Lee ◽  
James F. Glockner
Keyword(s):  
Physical Examination ◽  
Cystic Lesion ◽  
Pelvic Mass ◽  
Asymptomatic Woman ◽  
Weighted Image ◽  
Routine Physical Examination ◽  
T2 Weighted Images

57-year-old asymptomatic woman with a pelvic mass palpated during routine physical examination Axial fat-suppressed FSE T2-weighted images (Figure 11.10.1) reveal a large cystic lesion in the pelvis, with a partial septation anteriorly. Coronal FSE T2-weighted image (Figure 11.10.2) shows similar findings. An axial FSE T1-weighted image (...

scholarly journals Group-C Trisomy in Myeloid Metaplasia with Possible Leukemia

Blood ◽  
1964 ◽  
Vol 24 (6) ◽  
pp. 716-725 ◽  
Author(s):  
AVERY A. SANDBERG ◽  
TAKAAKI ISHIHARA ◽  
LOIS H. CROSSWHITE
Keyword(s):  
Bone Marrow ◽  
Blood Culture ◽  
Acute Leukemia ◽  
Chromosomal Abnormality ◽  
Blood Cells ◽  
Karyotype Analysis ◽  
Myeloproliferative Disorders ◽  
Normal Female ◽  
Myeloid Metaplasia ◽  
Definite Relationship

Abstract A chromosomal abnormality in marrow and blood cells has been found in only one patient out of a group of 20 subjects with myeloproliferative disorders other than leukemia. The abnormal karyotypic finding consisted of group C9 trisomy in a patient with myeloid metaplasia and an acute leukemia-like picture and indicates a definite relationship to acute leukemia. The latter has been shown to be not infrequently accompanied by C9 trisomy. The trisomy was accompanied by the presence of a substantial number of hypertetraploid cells in the marrow but not in the cultured blood cells. As a matter of fact, the blood culture yielded predominantly metaphases with 47 chromosomes (C9 trisomy) on the first examination and metaphases with 46 chromosomes and a normal female karyotype on the second occasion. The superiority of bone marrow karyotype analysis over that of blood cells in leukemic states is thus indicated.

Rapid Y-chromosome-assay sexing of peripheral blood lymphocytes from bovinae of known phenotypic sex

1990 ◽  
Vol 33 (1) ◽  
pp. 246 ◽  
Author(s):  
Charles M. Herr ◽  
Klaus I. Matthaei ◽  
Trevor Steel ◽  
Ken C. Reed
Keyword(s):  
Y Chromosome ◽  
Peripheral Blood ◽  
Peripheral Blood Lymphocytes ◽  
Blood Lymphocytes

scholarly journals Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study*

2000 ◽  
Vol 85 (9) ◽  
pp. 3199-3202 ◽  
Author(s):  
Claus Højbjerg Gravholt ◽  
Jens Fedder ◽  
Rune Weis Naeraa ◽  
Jørn Müller
Keyword(s):  
Risk Factor ◽  
Turner Syndrome ◽  
Y Chromosome ◽  
Carcinoma In Situ ◽  
Dna Analysis ◽  
Epidemiological Studies ◽  
Histopathological Evaluation ◽  
Primer Sets ◽  
Chromosome Material

Abstract The presence of Y chromosome material in patients with Turner syndrome is a risk factor for the development of gonadoblastoma. However, no cases with gonadoblastoma or other ovarian malignancies have been found in epidemiological studies of cancer, morbidity, or mortality in Turner syndrome. We examined 114 females with Turner syndrome for the presence of Y chromosome material by PCR. Initially, five different primer sets were used. Y Chromosome-positive individuals were further examined with an additional four primer sets. We found 14 (12.2%; 95% confidence interval, 6.9–19.7%) patients who had Y chromosome material. The karyotype in 7 of these patients did not suggest the presence of Y chromosome material. Seven of the patients had been ovariectomized before entering the study due to verified Y chromosome material, whereas three patients were operated upon after the DNA analysis. The histopathological evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The rest of the patients did not have gonadoblastoma or carcinoma in situ on histopathological evaluation. Three patients (age, >50 yr) positive for Y chromosome material chose not to have ovariectomy performed, and detailed ultrasonographies did not suggest the presence of gonadoblastoma. The frequency of Y chromosome material is high in Turner syndrome (12.2%), but the occurrence of gonadoblastoma among Y-positive patients seems to be low (7–10%), and the risk may have been overestimated in previous studies, perhaps due to problems with selection bias. This study emphasizes the need for prospective unbiased studies.

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