|
|
|
|
|
| Bachega,T.A.S.S.; Billerbeck,A.E.C.; Madureira,G.; Marcondes,J.A.M.; Longui,C.A.; Leite,M.V.; Arnhold,I.J.P.; Mendonça,B.B.. |
| We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were I2 splice (41.8% in salt wasting - SW), I172N (32.6% in simple virilizing - SV) and V281L (40.2% in the late onset form - LO). The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Brazilian patients; CYP21 mutations; Genotype; Phenotype. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011 |
| |
|
| |
|
|
| 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 |
| |
|
|
| 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 |
| |
|
|
|
