46 Xy Gonadal Dysgenesis
Mostrando 1-12 de 19 artigos, teses e dissertações.
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1. Linear and Nonlinear Heart Rate Variability Analysis in Gonadal Dysgenesis (Swyer Syndrome): A Case Report
Abstract Swyer syndrome is one of the disorders of sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis with decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis with female phenotype. Cardiac autonomic modulation was assessed through HRV analysis w
Int. J. Cardiovasc. Sci.. Publicado em: 2021-08
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2. Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center
ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of su
Int. braz j urol.. Publicado em: 2015-10
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3. Pesquisa de mutações no gene DMRT1 em pacientes portadores de distúrbios do desenvolvimento sexual (DDS) 46,XY por anormalidades gonadais / Search of mutation on DMRT1 gene in patients with 46,XY disorders of sex development (DSD) by gonads abnormalities
Introdução: O gene DMRT1 é um fator muito importante, o qual induz a determinação sexual masculina. Estudos mais recentes têm demonstrado que o Dmrt1 possui um papel significante no desenvolvimento ovariano. Deleções restritas ao gene DMRT1 têm sido raramente identificadas em pacientes com disgenesia gonadal (DG) sem outras características sindrôm
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 14/09/2012
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4. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development
Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyo
Brazilian Journal of Medical and Biological Research. Publicado em: 2011-04
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5. Analises de mutações e de seus efeitos na expressão do gene SRY em casos de disgenesia gonadal XY / SRY gene mutation analysis and functional effects in cases of XY gonadal dysgenesis
A expressão do gene SRY (Sex Determining Region in chromosome Y) é responsável por desencadear a determinação testicular durante o desenvolvimento embrionário, a partir das gônadas ainda indiferenciadas. Mutações nesse gene são encontradas em muitos casos de anomalias do desenvolvimento gonadal. O projeto teve por objetivo principal a análise func
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 25/02/2010
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6. Clinical, pathological and morphometric study of ten male disgenetic pseudohermaphroditism (DSD 46,XY) / Estudo investigativo clínico, laboratorial, patológico, morfométrico, molecular de 10 pacientes com pseudohermafroditismo masculino disgenético (ADS 46, XY)
O Pseudohermafroditismo masculino disgenético (Anomalia da diferenciação sexual 46,XY ADS 46,XY) é definido como ambigüidade genital num paciente com testículos e/ou cariótipo 46,XY com uma das seguintes características: alteração histológica testicular, ausência ou hipoplasia das células de Leydig em tecido previamente estimulado com gonadotrof
Publicado em: 2010
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7. Clinical and molecular analysis of patients with disorders of gonadal development / Análise clínica e molecular de pacientes com distúrbios do desenvolvimento gonadal
Introdução: O termo distúrbios do desenvolvimento gonadal (DDG) inclui condições congênitas nas quais o desenvolvimento gonadal é atípico. Estudos feitos em camundongos observaram que alguns genes como o Cbx2 e o Tcf21 interferem na fase inicial do desenvolvimento gonadal, afetando tanto gônadas XX quanto XY. O gene Dhh, por sua vez, codifica o fato
Publicado em: 2009
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8. Implicações psicologicas da (in)fertilidade em mulheres com fenotipo feminino e genotipo discordante
The present study was aimed at assessing the psychological characteristics and experiences of individuals with sex differentiation disorders, represented by phenotypic females with a 46,XY karyotype. Eight participants were selected, ages ranging from 22 to 44 years, who presented primary amenorrhea and sterility, lack of development of secondary sexual char
Publicado em: 2006
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9. Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis
The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenes
Brazilian Journal of Medical and Biological Research. Publicado em: 2005-01
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10. Avaliação molecular do gene WT1 em pacientes pre-puberes com disgenesia gonadal parcial
Male sex detennination in humans depends on the presence of one Y chromosome, which by SRY gene expression leads to the differentiation of the gonadal primordia into testes. Other genes are involved in male sex determination and differentiation, such as the WTl, that codes a "zinc finger" transcription factor essential to the gonadal and renal development in
Publicado em: 2004
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11. Estudo morfometrico gonadal : condição necessaria a confirmação histologica da disgenesia gonadal parcial
Background: Partial Gonadal Dysgenesis (pGD) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent Müllerian structures, and cryptorchidism in individuaIs with 46,XY karyotype. However, the histologic criteria for the diagnosis of PGD are poorly established. Objective: To determine gona dal histology in children with
Publicado em: 2001
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12. Avaliação funcional das celulas de Leydig e de Sertoli em 24 casos de ambiguidade genital com cariotipo 46,XY
The investigation of the origin of sex ambiguity is a very complex matter. Sex differentiation is dependent upon the action of two testicular hormones: testosterone and anti-Müllerian hormone (AMH). Although testicular function has traditionally been assessed only by examining the steroidogenic capacity of Leydig cells and spermatogenesis, it has recently b
Publicado em: 1999