Direct duplication of the Y chromosome with normal phenotype - incidental finding in two cases

Andrologia ◽  
2012 ◽  
Vol 45 (2) ◽  
pp. 140-144 ◽  
Author(s):  
L.-C. Kuan ◽  
M.-T. Su ◽  
P.-L. Kuo ◽  
T.-C. Kuo
Keyword(s):  
Y Chromosome ◽  
Incidental Finding ◽  
Normal Phenotype

scholarly journals Common Spontaneous Sex-Reversed XX males of the Medaka Oryzias latipes

Genetics ◽  
2003 ◽  
Vol 163 (1) ◽  
pp. 245-251 ◽  
Author(s):  
Indrajit Nanda ◽  
Ute Hornung ◽  
Mariko Kondo ◽  
Michael Schmid ◽  
Manfred Schartl
Keyword(s):  
Y Chromosome ◽  
Oryzias Latipes ◽  
Fish Analysis ◽  
Normal Phenotype ◽  
Dmrt1 Gene ◽  
Male Development ◽  
Female Bias ◽  
Male Sex ◽  
Xx Males ◽  
Number Of Males

Abstract In the medaka, a duplicated version of the dmrt1 gene, dmrt1bY, has been identified as a candidate for the master male sex-determining gene on the Y chromosome. By screening several strains of Northern and Southern medaka we identified a considerable number of males with normal phenotype and uncompromised fertility, but lacking dmrt1bY. The frequency of such males was >10% in some strains and zero in others. Analysis for the presence of other Y-linked markers by FISH analysis, PCR, and phenotype indicated that their genotype is XX. Crossing such males with XX females led to a strong female bias in the offspring and also to a reappearance of XX males in the following generations. This indicated that the candidate male sex-determining gene dmrt1bY may not be necessary for male development in every case, but that its function can be taken over by so far unidentified autosomal modifiers.

scholarly journals XX testicular disorder of sex differentiation: case report

2011 ◽  
Vol 9 (3) ◽  
pp. 394-396 ◽  
Author(s):  
Bianca Bianco ◽  
Denise Maria Christofolini ◽  
Frederico Rezende Ghersel ◽  
Marcello Machado Gava ◽  
Caio Parente Barbosa
Keyword(s):  
Case Report ◽  
Male Infertility ◽  
Y Chromosome ◽  
Sex Differentiation ◽  
Rare Condition ◽  
Testicular Development ◽  
Normal Phenotype ◽  
Xx Male

ABSTRACT The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition detected by cytogenetics, in which testicular development occurs in the absence of the Y chromosome. It occurs in 1:20,000 to 25,000 male newborns and represents 2% of cases of male infertility. About 90% of individuals present with normal phenotype at birth and are generally diagnosed after puberty for hypoganadism, gynecomastia, and/or infertility. The authors present the report of an XX male with complete masculinization and infertility.

139: Incidental Finding of Prostate Cancer at Cystoprostatectomy: Changes in Incidence in the PSA ERA

2006 ◽  
Vol 175 (4S) ◽  
pp. 45-45
Author(s):  
Daniel McRackan ◽  
Erik Kouba ◽  
Culley C. Carson ◽  
Eric M. Wallen ◽  
Raj S. Pruthi
Keyword(s):  
Prostate Cancer ◽  
Incidental Finding

Sex determination and Y chromosome constitutive heterochromatin

2019 ◽  
Vol 1 (1) ◽  
pp. 1-5
Author(s):  
Abyt Ibraimov
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Constitutive Heterochromatin ◽  
Sex Differentiation ◽  
Secondary Sexual Characteristics ◽  
Biological Meaning ◽  
Heterochromatin Block ◽  
Sexual Characteristics ◽  
Open Question ◽  
Efficient Elimination

In many animals, including us, the genetic sex is determined at fertilization by sex chromosomes. Seemingly, the sex determination (SD) in human and animals is determined by the amount of constitutive heterochromatin on Y chromosome via cell thermoregulation. It is assumed the medulla and cortex tissue cells in the undifferentiated embryonic gonads (UEG) differ in vulnerability to the increase of the intracellular temperature. If the amount of the Y chromosome constitutive heterochromatin is enough for efficient elimination of heat difference between the nucleus and cytoplasm in rapidly growing UEG cells the medulla tissue survives. Otherwise it doomed to degeneration and a cortex tissue will remain in the UEG. Regardless of whether our assumption is true or not, it remains an open question why on Y chromosome there is a large constitutive heterochromatin block? What is its biological meaning? Does it relate to sex determination, sex differentiation and development of secondary sexual characteristics? If so, what is its mechanism: chemical or physical? There is no scientifically sound answer to these questions.

Presacral Epidermoid as incidental finding in Cocydynia patient: a case report

2018 ◽  
pp. 26-29
Author(s):  
Bharat Sharma ◽  
Sandeep Sharma ◽  
Priya Ramchandran ◽  
Naveen Bhardwaj ◽  
Sakshi Dewan ◽  
...  
Keyword(s):  
Case Report ◽  
Incidental Finding
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