نتایج جستجو برای: 46 xy female

تعداد نتایج: 351927  

Journal: :Cerebral cortex 2016
Judy van Hemmen Dick J Veltman Elseline Hoekzema Peggy T Cohen-Kettenis Arianne B Dessens Julie Bakker

Sex hormones, androgens in particular, are hypothesized to play a key role in the sexual differentiation of the human brain. However, possible direct effects of the sex chromosomes, that is, XX or XY, have not been well studied in humans. Individuals with complete androgen insensitivity syndrome (CAIS), who have a 46,XY karyotype but a female phenotype due to a complete androgen resistance, ena...

2013
Nanis S Marzuki Lita P Suciati Chrysantine Paramayuda Hannie D Kartapradja Bambang Tridaja

46,XY Disorders of Sex Development (DSD) has wide variations of clinical manifestations ranging from complete female, genitalia ambiguity, to complete male. Therefore the inviduals with this disorder can be reared as boys or girls. Most of Indonesian DSD cases are facing with budget constraint, because they require series of costly examinations and treatment. We aimed to know the distribution o...

2016
Tapas Chakraborty Lin Yan Zhou Aparna Chaudhari Taisen Iguchi Y. Nagahama

Despite identification of several sex-determining genes in non-mammalian vertebrates, their detailed molecular cascades of sex determination/differentiation are not known. Here, we used a novel RNAi to characterise the molecular mechanism of Dmy (the sex-determining gene of medaka)-mediated masculinity in XY fish. Dmy knockdown (Dmy-KD) suppressed male pathway (Gsdf, Sox9a2, etc.) and favoured ...

Journal: :Journal of medical genetics 1992
T Ogata N Matsuo

Adult height was compared between published cases of patients with XX gonadal dysgenesis (XXGD) and those with XY gonadal dysgenesis (XYGD). The mean adult height of XYGD patients (171.0 cm (SD 7.8), n = 27) was significantly greater than that of XXGD patients (164.4 cm (7.7), n = 27) (p less than 0.01). This finding supports the existence of a Y specific growth gene(s) which promotes statural ...

Journal: :Genetics and molecular research : GMR 2014
L Chen X P Ding X Wei L X Li

We investigated the molecular genetic mechanism of sex reversal by exploring the relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with genetic sex reversal disease. Mutations in the three key genes were detected by polymerase chain reaction (PCR) and sequencing after karyotype analysis. The mutations detected were then aligned with a random sample of 100 normal se...

2012
Sally Tantawy Lin Lin Ilker Akkurt Guntram Borck Dietrich Klingmüller Berthold P Hauffa Heiko Krude Heike Biebermann John C Achermann Birgit Köhler

BACKGROUND Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic-pituitary-gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia, partial gonadal dysgenesis, and absent/rudimentary Müllerian structures. In these cases, testost...

2015
Daji Luo Yun Liu Ji Chen Xiaoqin Xia Mengxi Cao Bin Cheng Xuejuan Wang Wuming Gong Chao Qiu Yunsheng Zhang Christopher Hon Ki Cheng Zuoyan Zhu Wei Hu

Medaka is an ideal model for sex determination and sex reversal, such as XY phenotypically female patients in humans. Here, we assembled improved TALENs targeting the DMY gene and generated XY(DMY-) mutants to investigate gonadal dysgenesis in medaka. DMY-TALENs resulted in indel mutations at the targeted loci (46.8%). DMY-nanos3UTR-TALENs induced mutations were passed through the germline to F...

2014
XUE DU XUHONG ZHANG YONGMEI LI YUKUN HAN

Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically n...

2011
Flávia Leme de Calais Fernanda Caroline Soardi Reginaldo José Petroli Ana Letícia Gori Lusa Roberto Benedito de Paiva e Silva Andréa Trevas Maciel-Guerra Gil Guerra-Júnior Maricilda Palandi de Mello

The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II gene (SRD5A2) was performed in two 46,XY female siblings. SRD5A2 gene sequencing revealed that the ...

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