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Doctoral Thesis
DOI
https://doi.org/10.11606/T.5.2006.tde-07082006-134343
Document
Author
Full name
Karina Berger
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2006
Supervisor
Committee
Mendonca, Berenice Bilharinho de (President)
Antonini, Sonir Roberto Rauber
Longui, Carlos Alberto
Verreschi, Ieda Therezinha do Nascimento
Xavier, Ana Claudia Latrônico
Title in Portuguese
"Hipogonadismo hipogonadotrófico: diagnóstico pré-puberal e papel das isoformas e variantes gênicas do hormônio luteinizante no fenótipo da doença"
Keywords in Portuguese
Cromatografia
Fluorimunoensaio
Freqüência do gene
Glicoproteínas
Hipogonadismo/diagnóstico
Hipopituitarismo
Hormônio luteinizante subunidade beta/genética
Abstract in Portuguese
A resposta do LH e do FSH ao estímulo com GnRH, realizado em estádio pré-puberal em pacientes com hipopituitarismo acompanhados até a idade puberal, são úteis para predizer o diagnóstico da deficiência de gonadotrofinas, principalmente nas meninas. O estudo da região codificadora do gene LH em pacientes com hipogonadismo hipogonadotrófico e concentrações normais de LH revelou 5 variantes alélicas. A freqüência das variantes alélicas Arg8 e Thr15 foi similar entre hipogonádicos e adultos normais e a sua presença não interferiu nas concentrações séricas do LH. O estudo das isoformas do LH mostrou um predomínio das isoformas ácidas do LH em hipogonádicos e indivíduos normais, não permitindo atribuir à sua presença a baixa atividade biológica do LH imunorreativo encontrado em 13% dos hipogonádicos
Title in English
Hypogonadotropic hypogonadism : pre-pubertal diagnosis and the role of the isoforms and allelic variants of the luteinizing hormone in the disease phenotype
Keywords in English
Chromatography
Fluoroimmunoassay
Gene frequency
Glycoprotein hormones alpha subunit/genetics
Glycoproteins
Hypogonadism/diagnosis
Hypopituitarism
Abstract in English
LH and FSH responses to GnRH stimulation carried out in the pre-pubertal stage in patients with hypopituitarism followed until the pubertal stage are useful tools for predicting the gonadotropin deficiency diagnosis, especially in girls. The study of the codifying region of the LH gene in patients with hypogonadotropic hypogonadism and normal LH levels disclosed 5 allelic variants. The frequencies of the allelic variants Arg8 and Thr15 were similar between hypogonadic and normal adults, and their presence did not alter serum LH levels. The study of LH isoforms showed a predominance of acid LH isoforms in hypogonadic and normal subjects, which does not allow us to ascribe to their presence the low biological activity of the immunoreactive LH, found in 13% of the hypogonadic individuals
 
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KarinaBerger.pdf (873.61 Kbytes)
Publishing Date
2006-08-08
 
WARNING: The material described below relates to works resulting from this thesis or dissertation. The contents of these works are the author's responsibility.
  • BERGER, K., et al. Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism [doi:10.1590/S1807-59322005000600006]. Clinics (São Paulo) [online], 2005, vol. 60, nº 6, p. 461-464.
  • BERGER, K., et al. A new female case with partial FSH deficiency due to a nonsense mutation of the FSHb gene. In 1 Simpósio Avanços em Pesquisas Médicas dos Laboratórios de Invest. Médica - HCFMUSP, São Paulo, 2003. Simpósio Avanços em Pesq. Médicas dos Lab. de Invest. Médica - HCFMUSP., 2003. Abstract.
  • BERGER, K., et al. O hipogonadismo hipogonadotrófico (HH) pode ser diagnosticado em idade pré-puberal. In 25º Congresso Brasileiro de Endocrinologia, Brasília, 2002. Arquivos Brasileiros de Endocrinologia e Metabologia., 2002. Resumo.
  • BERGER, K., et al. Prevalence of a genetic variant of luteinizing hormone (Trp8Arg and IIe15Thr) in a Brazilian population of healthy subjects and in patients with hypogonadotropic hypogonadism. In 87th Annual Meeting the Endocrine Society, 2005. Anais do Congresso., 2005. Abstract.
  • BERGER, K., et al. Role of luteinizing hormone (LH) isoforms and allelic variants in hypogonadotropic hypogonadism (HH) phenotype. In The Endocrine Society 89TH Annual Meeting, Toronto, 2006. Abstract.
  • BERGER, K., et al. Valor preditivo da dosagem das gonadotrofinas por método fluorométrico após teste de GnRH no diagnóstico de hipogonadismo hipogonadotrófico (HH) em idade pré-puberal. In XV Reunion de la Sociedad Latinoamericana de Endocrinologia Pediátrica - SLEP, Uruguai, 2002. SLEP., 2002. Resumo.
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