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Genética molecular do eixo hipotálamo-hipófise-gonadal

Genética molecular do eixo hipotálamo-hipófise-gonadal

Authors :
Berenice B. Mendonca
Suemi Marui
Sorahia Domenice
Elaine Maria Frade Costa
Ana Claudia Latronico
Rafaela Vieira Correa
Source :
Arquivos Brasileiros de Endocrinologia & Metabologia v.47 n.4 2003, Arquivos Brasileiros de Endocrinologia & Metabologia, Sociedade Brasileira de Endocrinologia e Metabologia (SBEM), instacron:SBEM
Publication Year :
2003
Publisher :
FapUNIFESP (SciELO), 2003.

Abstract

In this review, we described the genes that encode an array of transcription factors, matrix proteins, hormones, enzymes and receptors that are expressed at multiple levels of the hypothalamic-pituitary-gonadal axis (HPG). In addition, we reported our experience in the identification and characterization of naturally occurring mutations in patients affected by HPG disorders, including hypergonadotropic hypogonadism and hypogonadotropic hypogonadism, isolated or associated with others pituitary hormonal deficiencies, and abnormalities of pubertal and sexual development. To date, fifteen distinct genes implicated with HPG axis development and function were identified: KAL, SF1, DAX1, LEPTIN, PC1, GnRH, GnRHR, HESX1, LHX3, PROP1, FSHR, LHR, LHb, FSHb and FGFR1. Most mutations identified in our cohort were described for the first time in literature and they frequently were associated with new clinical and hormonal aspects of the diseases. Characterization of the consequences of these mutations in in vitro studies have provided increased understanding of the structure and function of the proteins encoded by these genes. The combined clinical, hormonal and molecular diagnosis of HPG disorders have helped significantly to improve the knowledge and, consequently, the diagnosis and treatment of these patients.

Details

ISSN :
00042730
Volume :
47
Database :
OpenAIRE
Journal :
Arquivos Brasileiros de Endocrinologia & Metabologia
Accession number :
edsair.doi.dedup.....0a6e8f1f869be9360e1d8f1d1c94f256
Full Text :
https://doi.org/10.1590/s0004-27302003000400016