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| 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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| Gonzales,P.H.; Rhoden,C.R.; Luz,C.; Corrêa,G.; Barbosa-Coutinho,L.M.; Oliveira,M.C.. |
| Liver cirrhosis, a highly prevalent chronic disease, is frequently associated with endocrine dysfunctions, notably in the gonadal axis. We evaluated lactotroph population by immunohistochemistry, gonadotropins and prolactin by immunoradiometric assay and testosterone and estradiol by radioimmunoassay in adult male Wistar rats with cirrhosis induced by carbon tetrachloride. No significant difference in mean ± SEM percentages of lactotrophs was found between cirrhotic animals and controls (N = 12, mean 18.95 ± 1.29%). Although there was no significant difference between groups in mean serum levels of prolactin (control: 19.2 ± 4 ng/mL), luteinizing hormone (control: 1.58 ± 0.43 ng/mL), follicle-stimulating hormone (control: 19.11 ± 2.28 ng/mL), estradiol... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hypogonadism; Hyperestrogenemia; Hyperprolactinemia; Lactotrophs; Liver cirrhosis. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001000011 |
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