Clinical and molecular analysis of human reproductive disorders in Brazilian patients
Braz. j. med. biol. res
;
37(1): 137-144, Jan. 2004. tab
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Trastornos Gonadales
/
Sistema Hipotálamo-Hipofisario
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Braz. j. med. biol. res
Asunto de la revista:
Biologia
/
Medicina
Año:
2004
Tipo del documento:
Artículo
/
Congreso y conferencia
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade de São Paulo/BR
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