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.

Lobular Carcinoma In Situ: Risk Factor or Cancer Precursor?

2018 ◽  
pp. 21-36
Author(s):  
Kevin M. Sullivan ◽  
Meghan R. Flanagan ◽  
Mark R. Kilgore ◽  
Benjamin O. Anderson
Keyword(s):  
Risk Factor ◽  
Carcinoma In Situ ◽  
Lobular Carcinoma ◽  
Lobular Carcinoma In Situ

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.

scholarly journals Risk Factor of Invasive Breast Cancer in Patients with Preoperative Diagnosis of Ductal Carcinoma in Situ

2011 ◽  
Vol 80 (2) ◽  
pp. 90 ◽  
Author(s):  
Sun Hyoung Shin ◽  
Byung Chun Kim ◽  
Young Ju Song ◽  
Hyun Chul Yoon ◽  
Jin Seong Cho ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Ductal Carcinoma In Situ ◽  
Invasive Breast Cancer ◽  
Carcinoma In Situ ◽  
Preoperative Diagnosis ◽  
Ductal Carcinoma

scholarly journals Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material

2017 ◽  
Vol 8 (3) ◽  
pp. 166-173 ◽  
Author(s):  
Ahreum Kwon ◽  
Sei Eun Hyun ◽  
Mo Kyung Jung ◽  
Hyun Wook Chae ◽  
Woo Jung Lee ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Chromosome Material

scholarly journals Variability of Three Isolates of Botrytis cinerea Affects the Inhibitory Effects of Calcium on this Fungus

2000 ◽  
Vol 90 (7) ◽  
pp. 769-774 ◽  
Author(s):  
Catherine O. Chardonnet ◽  
Carl E. Sams ◽  
Robert N. Trigiano ◽  
William S. Conway
Keyword(s):  
Botrytis Cinerea ◽  
Mycelial Growth ◽  
Dna Analysis ◽  
Epidemiological Studies ◽  
Inhibitory Effects ◽  
Apple Cultivars ◽  
Sporulation Rate ◽  
Polygalacturonase Activity

Botrytis cinerea is an economically important pathogen. Epidemiological studies are difficult because of the genetic variability within this species. The objectives of this work were to study the variability and to compare the inhibitory effects of Ca on three isolates of B. cinerea from decayed apple (B) and grape (C and C77:4). Among these isolates, B had the least radial growth but had a sporulation rate 40% higher than that of both C77:4 and C. In situ, isolate C incited the largest decay area in the fruit of two of four apple cultivars examined and had the highest polygalacturonase activity in vitro. Maximum mycelial growth was reached with CaCl2 at 1 g liter-1 for isolates B and C77:4 and at 4 g liter-1 for isolate C. Calcium (CaCl2) inhibited polygalacturonase activity at 1 g liter-1 for C and C77:4 and at 16 g liter-1 for B. Calcium infiltration reduced decay caused by all three isolates by three to five times. Mycelial DNA analysis showed that 42% of the character loci scored were polymorphic and the greatest similarities were found between B and C77:4. These results support the evidence that the biological and statistical variability in research can be affected by the B. cinerea isolate selected. Despite this variation, Ca treatment of apples reduced decay caused by all three Botrytis cinerea isolates.

scholarly journals Y Chromosome Material in Turner Syndrome

Cureus ◽  
2021 ◽  
Author(s):  
Abdullah Baris Akcan ◽  
Osman K Boduroğlu
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Chromosome Material

scholarly journals Dysgerminoma in a female with turner syndrome and Y chromosome material: A case-based review of literature

2012 ◽  
Vol 16 (3) ◽  
pp. 436 ◽  
Author(s):  
SunilKumar Kota ◽  
JayaPrakash Pani ◽  
LalitKumar Meher ◽  
Kotni Gayatri ◽  
SivaKrishna Kota ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Review Of Literature ◽  
Chromosome Material ◽  
Case Based

scholarly journals Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

2017 ◽  
Vol 88 (3-4) ◽  
pp. 291-297 ◽  
Author(s):  
Tamar G. Baer ◽  
Christopher E. Freeman ◽  
Claudia Cujar ◽  
Mahesh Mansukhani ◽  
Bahadur  Singh ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Heterogeneous Distribution ◽  
Gonadal Tissue ◽  
Malignancy Risk ◽  
Monosomy X ◽  
Increased Risk ◽  
A Cell ◽  
Chromosome Material

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du­plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

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