Genetic counseling for isolated GnRH deficiency
نویسندگان
چکیده
منابع مشابه
GnRH receptor mutations in isolated gonadotropic deficiency.
GnRH and its receptor GnRHR are key regulators of the hypothalamo-pituitary axis. They modulate the secretion of LH and FSH gonadotropins and therefore, the development and maturation of gonads in fetal life as well as after birth. Congenital functional defect of this axis results in isolated hypogonadotropic hypogonadism (IHH). Several natural mutations causing IHH without anosmia have now bee...
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Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in IGD patients, but it is unclear if these alleles are relevant to causality or overall genetic burde...
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ژورنال
عنوان ژورنال: Molecular and Cellular Endocrinology
سال: 2011
ISSN: 0303-7207
DOI: 10.1016/j.mce.2011.05.041