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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | TUSSET, Cintia | - |
dc.contributor.author | TRARBACH, Ericka B. | - |
dc.contributor.author | SILVEIRA, Leticia Ferreira Gontijo | - |
dc.contributor.author | BENEDUZZI, Daiane | - |
dc.contributor.author | MONTENEGRO, Luciana | - |
dc.contributor.author | LATRONICO, Ana Claudia | - |
dc.date.accessioned | 2017-11-27T16:23:28Z | - |
dc.date.available | 2017-11-27T16:23:28Z | - |
dc.date.issued | 2011 | - |
dc.identifier.citation | ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, v.55, n.8, p.501-511, 2011 | - |
dc.identifier.issn | 0004-2730 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/22596 | - |
dc.description.abstract | Congenital isolated hypogonadotropic hypogonadism (IHH) is characterized by partial or complete lack of pubertal development due to defects in migration, synthesis, secretion or action of gonadotropin-releasing hormone (GnRH). Laboratory diagnosis is based on the presence of low levels of sex steroids, associated with low or inappropriately normal levels of pituitary gonadotropins (LH and FSH). Secretion of other pituitary hormones is normal, as well magnetic resonance imaging of the hypothalamohypophyseal tract, which shows absence of an anatomical defects. When IHH is associated with olfactory abnormalities (anosmia or hyposmia), it characterizes Kallmann syndrome. A growing list of genes is involved in the etiology of IHH, suggesting the heterogeneity and complexity of the genetic bases of this condition. Defects in olfactory and GnRH neuron migration are the etiopathogenic basis of Kallmann syndrome. Mutations in KAL1, FGFR1/FGF8, PROK2/PROKR2, NELF, CHD7, HS6ST1 and WDR11 are associated with defects in neuronal migration, leading to Kallmann syndrome. Notably, defects in FGFR1, FGF8, PROKR2, CHD7 and WDR11 are also associated with IHH, without olfactory abnormalities (normosmic IHH), although in a lower frequency. Mutations in KISS1R, TAC3/TACR3 and GNRH1/GNRHR are described exclusively in patients with normosmic IHH. In this paper, we reviewed the clinical, hormonal and genetic aspects of IHH. Arq Bras Endocrinol Metab. 2011;55(8):501-11 | - |
dc.description.abstract | O hipogonadismo hipogonadotrófico isolado (HHI) congênito caracteriza-se pela falta completa ou parcial de desenvolvimento puberal em decorrência de defeitos na migração, síntese, secreção ou ação do hormônio liberador de gonadotrofinas (GnRH). Baixas concentrações de esteroides sexuais e valores reduzidos ou inapropriadamente normais de gonadotrofinas hipofisárias (LH e FSH) definem, do ponto de vista laboratorial, essa condição clínica. A secreção dos demais hormônios hipofisários encontra-se normal, bem como a ressonância magnética de região hipotalâmica-hipofisária, demonstrando a ausência de uma causa anatômica. Alte-rações olfatórias, como anosmia ou hiposmia, podem estar associadas ao HHI, caracterizando a síndrome de Kallmann. Uma lista crescente de genes está envolvida na etiologia do HHI, sugerindo a heterogeneidade e a complexidade da base genética dessa condição. Distúrbios na rota de migração dos neurônios secretores de GnRH e dos neurônios olfatórios formam a base clínico-patológica da síndrome de Kallmann. Mutações nos genes KAL1, FGFR1/FGF8, PROK2/PROKR2, NELF, CHD7, HS6ST1 e WDR11 foram associadas a defeitos de migração neuronal, causando a síndrome de Kallmann. É notável que defeitos nos genes FGFR1, FGF8, PROKR2, CHD7e WDR11 foram também associados ao HHI sem alterações olfatórias (HHI normósmico), porém em menor frequência. Adicionalmente, defeitos nos KISS1R, TAC3/TACR3 e GNRH1/GNRHR foram descritos exclusivamente em pacientes com HHI normósmico. Neste trabalho, revisaremos as características clínicas, hormonais e genéticas do HHI. Arq Bras Endocrinol Metab. 2011;55(8):501-11 | |
dc.language.iso | por | - |
dc.publisher | SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | - |
dc.relation.ispartof | Arquivos Brasileiros de Endocrinologia e Metabologia | - |
dc.rights | openAccess | - |
dc.subject | Normosmic isolated hypogonadotropic hypogonadism | - |
dc.subject | Kallmann syndrome | - |
dc.subject | GnRH | - |
dc.subject | mutations | - |
dc.subject | Hipogonadismo hipogonadotrófico isolado normósmico | |
dc.subject | síndrome de Kallmann | |
dc.subject | GnRH | |
dc.subject | mutações | |
dc.subject.other | gonadotropin-releasing-hormone | - |
dc.subject.other | dominant kallmann-syndrome | - |
dc.subject.other | of-function mutations | - |
dc.subject.other | factor receptor 1 | - |
dc.subject.other | inactivating mutation | - |
dc.subject.other | reproductive-system | - |
dc.subject.other | missense mutations | - |
dc.subject.other | tacr3 mutations | - |
dc.subject.other | charge syndrome | - |
dc.subject.other | olfactory-bulb | - |
dc.title | Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism | - |
dc.title.alternative | Aspectos clínicos e moleculares do hipogonadismo hipogonadotrófico isolado congênito | |
dc.type | article | - |
dc.rights.holder | Copyright SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | - |
dc.identifier.pmid | 22218430 | - |
dc.subject.wos | Endocrinology & Metabolism | - |
dc.type.category | review | - |
dc.type.version | publishedVersion | - |
hcfmusp.description.beginpage | 501 | - |
hcfmusp.description.endpage | 511 | - |
hcfmusp.description.issue | 8 | - |
hcfmusp.description.volume | 55 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | WOS:000298885900002 | - |
hcfmusp.origem.id | 2-s2.0-84855452549 | - |
hcfmusp.publisher.city | RIO DE JANEIRO, RJ | - |
hcfmusp.publisher.country | BRAZIL | - |
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dc.description.index | PubMed | - |
hcfmusp.citation.scopus | 8 | - |
hcfmusp.scopus.lastupdate | 2024-03-29 | - |
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