Clinical and molecular analysis of human reproductive disorders in Brazilian patients
Braz. j. med. biol. res
;
37(1): 137-144, Jan. 2004. tab
Article
Dans Anglais
| LILACS
| ID: lil-352104
ABSTRACT
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, FSHá, FSHR, and LHR. Most mutations identified in our cohort are described for the first time in literature. New mutations in SF1, DAX1 and GnRHR genes were identified in three Brazilian patients with hypogonadism. Eight boys with luteinizing hormone- (LH) independent precocious puberty due to testotoxicosis were studied, and all have their LH receptor (LHR) defects elucidated. Among the identified LHR molecular defects, three were new activating mutations. In addition, these mutations were frequently associated with new clinical and hormonal aspects, contributing significantly to the knowledge of the molecular basis of reproductive disorders. In conclusion, the naturally occurring genetic mutations described in the Brazilian families studied provide important insights into the regulation of the HPG.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Troubles gonadiques
/
Axe hypothalamohypophysaire
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
/
Mâle
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Braz. j. med. biol. res
Thème du journal:
Biologie
/
Médicament
Année:
2004
Type:
Article
/
Congrès et conférence
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Universidade de São Paulo/BR
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