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Clinical and molecular analysis of human reproductive disorders in Brazilian patients BJMBR
Latronico,A.C.; Costa,E.M.F.; Domenice,S.; Correa,R.V.; Kohek,M.B.F.; Arnhold,I.J.P.; Mendonca,B.B..
Several genes that influence the development and function of the hypothalamic-pituitary-gonadal-axis (HPG) have been identified. These genes encode an array of transcription factors, matrix proteins, hormones, receptors, and enzymes that are expressed at multiple levels of the HPG. We report the experience of a single Endocrinology Unit in the identification and characterization of naturally occurring mutations in families affected by HPG disorders, including forms of precocious puberty, hypogonadism and abnormal sexual development due to impaired gonadotropin function. Eight distinct genes implicated in HPG function were studied: KAL, SF1, DAX1, GnRH, GnRHR, FSHß, FSHR, and LHR. Most mutations identified in our cohort are described for the first time in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hypogonadism; Puberty; Gonadotropins; Genetic mutation.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000100019
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Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients BJMBR
Domenice,S.; Corrêa,R.V.; Costa,E.M.F.; Nishi,M.Y.; Vilain,E.; Arnhold,I.J.P.; Mendonca,B.B..
In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Mutation studies have identified several genes essential for early gonadal development. We report here a molecular study of the SRY, DAX1, SF1 and WNT4 genes, mainly involved in sexual determination, in Brazilian 46,XX and 46,XY sex-reversed patients. The group of 46,XX sex-reversed patients consisted of thirteen 46,XX true hermaphrodites and four 46,XX males, and was examined for the presence of the SRY gene and for the loss of function (inactivating mutations and deletions) of DAX1 and WNT4 genes. In the second group consisting of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Sex reversal; SRY gene; DAX1 gene; SF1 gene; WNT4 gene.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000100020
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