Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism

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art_AMATO_Molecular_and_Genetic_Aspects_of_Congenital_Isolated_Hypogonadotropic_2017.PDF (682.09 KB)
Citações na Scopus
24
Tipo de produção
article
Data de publicação
2017
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
W B SAUNDERS CO-ELSEVIER INC
Autores
Citação
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, v.46, n.2, p.283-303, 2017
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Congenital isolated hypogonadotropic hypogonadism (IHH) is a clinically and genetically heterogenous disorder characterized by abnormal synthesis, secretion, or action of gonadotropin-releasing hormone, a key hypothalamic decapeptide that orchestrates the reproductive axis. Several modes of inheritance have been identified. A growing list of causative genes has been implicated in the molecular pathogenesis of syndromic and nonsyndromic IHH, largely contributing for better understanding the complex neuroendocrine control of reproduction. This article summarizes the great advances of molecular genetics of IHH and pointed up the heterogeneity and complexity of the genetic basis of this condition.
Palavras-chave
Hypogonadotropic hypogonadism, Kallmann syndrome, GnRH, Neuronal migration, Sense of smell and genes
URI
https://observatorio.fm.usp.br/handle/OPI/21217
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/42