Clinical and molecular analysis of human reproductive disorders in Brazilian patients
Braz. j. med. biol. res
;
37(1): 137-144, Jan. 2004. tab
Article
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Gonadal Disorders
/
Hypothalamo-Hypophyseal System
/
Mutation
Type of study:
Prognostic study
Limits:
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2004
Type:
Article
/
Congress and conference
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de São Paulo/BR
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