Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042755 (masculinization)
 2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In an 8-year old boy with bilateral cryptorchism the heterochromatin region deletion of Y-chromosome and the satellites in its long arm were found (karyotype 46, XYq-S). The same Y-chromosome was found in proband's father. Moreover, the proband had large brilliant satellites in the chromosome 22 and a very large segment of centromeric heterochromatin in the chromosome 1; both were inherited from his mother. The abnormal Y-chromosome is, probably, due to an exchange with heterochromatin regions between an acrocentric chromosome and Y-chromosome. The combination of above peculiarities of proband's chromosome set is supposed to promote the sex differentiation disorders in embryogenesis which led to an incomplete masculinization.
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PMID:[Rare structural rearrangement of the Y chromosome (Yq-,S) in the family of a boy with a sex differentiation disorder]. 613 63

46,XX maleness is characterized by the presence of testicular development in subjects who lack a Y chromosome. The majority of affected persons have normal external genitalia, but 10-15% show various degrees of hypospadias. Several hypotheses have been proposed to explain the etiology of this constitution: translocation of the testis-determining factor (TDF) from the Y to the X chromosome, mutation in an autosomal or X chromosomal gene which permits testicular determination in the absence of TDF, and undetected mosaicism with a Y-bearing cell line. We report the phenotypic data and results of molecular analyses performed in six sporadic Mexican males with 46,XX karyotype. Molecular studies revealed Yp sequences in two individuals (ZFY+ SRY+) with different phenotypes, a third one presented with a smaller segment of Yp (ZFY- SRY+) and complete virilization, while the remaining three were Y-negative and showed hypospadias. In all subjects a hidden mosaicism with a Y-bearing cell line was ruled out due to the absence of Y-centromeric sequences. Our data demonstrate that the phenotype does not always correlate with the presence or absence of Y-sequences in the genome, and confirm that 46,XX maleness is a genetically heterogeneous condition.
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PMID:Clinical traits and molecular findings in 46,XX males. 758 41

46,XX female pseudohermaphrodites have been previously described with nearly complete masculinization of the external genitalia and no apparent source of testosterone. Multiple malformations of internal genital, urinary, and gastrointestinal tracts are associated. We have evaluated four such infants with female pseudohermaphroditism and multiple caudal anomalies. Three cases had apparently normal chromosomes (46,XX); one had a 46,XX,del(10)(q25.3-->qter) chromosome constitution. The chromosome breakpoint is in the region of PAX2, a developmentally important paired box gene which is expressed in urogenital tissue. Using the polymerase chain reaction, we screened for the presence of multiple Y specific sequences, including SRY (sex determining region, Y chromosome), that could explain masculinization of the external genitalia. All were negative for Y centromeric sequences, ZFY (Zinc finger Y), and SRY. Furthermore, there was no evidence for adrenal or other sources of testosterone. We suggest that the masculinization in these cases is the result of abnormal expression of genes which would normally be regulated by testosterone.
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PMID:Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors. 791 93

The Turner syndrome (TS) has been described in association with different sex chromosome aberrations. Although most TS patients show no evidence of Y chromosome sequences, according to different authors some TS patients may have Y chromosome material present in a few cells that are not detected by standard cytogenetic analysis. The importance of identification of this low level Y mosaicism is of clinical relevance due to the patient's increased risk of developing gonadoblastoma. In the present study, standard chromosome analysis performed on peripheral blood lymphocytes from 22 TS patients showed 12 patients with 45,X karyotype, 7 patients were mosaics with or without structural abnormalities in one X chromosome and, the remaining three patients had the following karyotypes: 46,X,i(X)(q10); 46,X,+mar/47,X,idic(Y),+mar and 45,X/46,X,+r. Molecular studies were performed on genomic DNA extracted from peripheral blood lymphocytes and mouth epithelial cells, which derive from two different embryonic germ layers, mesoderm and ectoderm, respectively. The screening for low level Y mosaicism was carried out by simplex PCR and by nested PCR of the following Y specific loci: SRY (sex determining region Y), TSPY (testis specific protein Y encoded), DYZ3 (centromeric locus) and DAZ1 (deleted in azoospermia). In two TS patients a set of STSs of the Y long and short arms were used to characterize the idic(Y) and the ring chromosomes. The high sensitivity of the nested PCR (1 male cell/125,000 female cells) allowed for exclusion of the presence of low level Y mosaicism in 20 out of 22 TS patients. In the patient with the idic(Y), PCR analysis was positive for all Y loci tested excluding the heterochromatic region. This result identified the breakpoint between sY158 and sY159 on the long arm and, by fluorescence in situ hybridization (FISH) it was confirmed that the euchromatic part of the long arm, centromere and short arm of the Y chromosome were duplicated. The characterization of the ring chromosome, detected in one of the TS patients, was only possible to analyse by FISH and PCR. In this ring, derived from the Y chromosome, a deletion was identified including the pseudoautosomal region 1 (PARY1) and Y intervals 6 and 7. However, the ring Y was positive for SRY, RPS4Y, AMGY, TSPY loci on the short arm, DYZ3 (centromere) and, sY85, DFFRY, GY6, sY87, sY113, sY119, sY122, sY126 and RBMY1 on the long arm. This study excluded the presence of low level Y mosaicism in two tissues collected from 20 TS patients. FISH and molecular analysis allowed us to characterize, in 2 out of 22 patients, one idic(Y) and one ring chromosome. The nature of the latter had not been completely identified by standard cytogenetics. The potential increased risk of gonadoblastoma in TS patients carrying Y chromosome sequences justifies the application of FISH and PCR for the characterization of marker chromosomes and the application of nested PCR for the detection of low level Y mosaicisms when Y chromosome material is not detected by standard cytogenetic analysis in patients with a 45,X karyotype and/or with virilization.
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PMID:[Screening for Y chromosome sequences in patients with Turner syndrome]. 1552 54