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Pesquisa : C12.706.316.096.750 [Categoria DeCS]
Referências encontradas : 553 [refinar]
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[PMID]:29330225
[Au] Autor:Maione L; Dwyer AA; Francou B; Guiochon-Mantel A; Binart N; Bouligand J; Young J
[Ad] Endereço:University of Paris-SudParis-Sud Medical School, Le Kremlin-Bicêtre, France.
[Ti] Título:GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
[So] Source:Eur J Endocrinol;178(3):R55-R80, 2018 Mar.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex; oligogenic modes of transmission have also been described. The prevalence of oligogenicity has risen dramatically since the advent of massively parallel next-generation sequencing (NGS) in which tens, hundreds or thousands of genes are sequenced at the same time. NGS is medically and economically more efficient and more rapid than traditional Sanger sequencing and is increasingly being used in medical practice. Thus, it seems plausible that oligogenic forms of CHH/KS will be increasingly identified making genetic counseling even more complex. In this context, the main challenge will be to differentiate true oligogenism from situations when several rare variants that do not have a clear phenotypic effect are identified by chance. This review aims to summarize the genetics of CHH/KS and to discuss the challenges of oligogenic transmission and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling.
[Mh] Termos MeSH primário: Aconselhamento Genético
Hipogonadismo/genética
Infertilidade/genética
Síndrome de Kallmann/genética
Herança Multifatorial/genética
[Mh] Termos MeSH secundário: Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Hipogonadismo/congênito
Penetrância
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180114
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0749


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[PMID]:28858133
[Au] Autor:Ha JH; Lee S; Kim Y; Moon JI; Seo J; Jang JH; Cho EH; Kim JM; Rhee BD; Ko KS; Yoo SJ; Won JC
[Ad] Endereço:aDepartment of Internal Medicine, Sanggye Paik Hospital, College of Medicine, Inaja University, Seoul bGreen Cross Genome, Yongin cCardiovascular and Metabolic Disease Center, College of Medicine, Inje University, Busan dDepartment of Laboratory Medicine, Sanggye Paik Hospital, College of Medicine, Inje University, Seoul, Republic of Korea.
[Ti] Título:Kallmann syndrome with a Tyr113His PROKR2 mutation.
[So] Source:Medicine (Baltimore);96(35):e7974, 2017 Sep.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONAL: Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance. PATIENT CONCERNS: A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia. His magnetic resonance imaging of brain revealed the absence of the olfactory bulb. DIAGNOSIS: His karyotype was 46 XY. Sanger sequencing of the KAL1 gene revealed no mutations. Diagnostic exome sequencing identified a prokineticin-receptor 2 (PROKR2) gene variant, c.337T > C (p.Tyr113His), previously reported to be a pathogenic mutation; we confirmed the presence of the mutation via Sanger sequencing of the coding exons of PROKR2. His apparently unaffected mother and sister, but not his father, were heterozygous for the PROKR2 Tyr113His mutation. LESSONS: This work advances our understanding of the role played by PROKR signaling and the mode of inheritance of the gene in patients with KS.
[Mh] Termos MeSH primário: Síndrome de Kallmann/genética
Mutação de Sentido Incorreto
Receptores Acoplados a Proteínas-G/genética
Receptores de Peptídeos/genética
[Mh] Termos MeSH secundário: Adolescente
Exoma
Seres Humanos
Masculino
Fenótipo
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PROKR2 protein, human); 0 (Receptors, G-Protein-Coupled); 0 (Receptors, Peptide)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007974


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[PMID]:28802362
[Au] Autor:Dzaman K; Zborowska-Piskadlo K; Pietniczka-Zaleska M; Kantor I
[Ad] Endereço:Department of Otolaryngology, Centre of Postgraduate Medical Education, 8 Kondratowicza St., 03-242 Warsaw, Poland; Department of Otolaryngology, Miedzyleski Hospital, 2 Bursztynowa St., 04-749 Warsaw, Poland. Electronic address: kfrydel@poczta.onet.pl.
[Ti] Título:Kallmann syndrome in pediatric otorhinolaryngology practice - Case report and literature review.
[So] Source:Int J Pediatr Otorhinolaryngol;100:149-153, 2017 Sep.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS. CASE: A 17-year-old girl admitted to ENT Department because of the olfactory sense disturbances since two years. The patient reported also amenorrhea caused by primary HH. A diagnostic work-up using double-checked Sniffin' Sticks test and 6-items olfactory test confirmed serious hyposmia and identified the presence of KS. CONCLUSION: Usually anosmia is not recognized by the affected individuals, so it is recommended to perform olfactory screening tests and obligatory ENT examination in the event of a HH even when patient reports a normal sense of smell. It leads to early diagnosis of KS and will benefit the relevant patient care.The KS diagnosis should be done at an early stage, but symptoms and clinical manifestations are not always evident both in ENT and pediatric field. In this article we would like to highlight the need for a multidisciplinary assessment and awareness for KS symptoms in pediatric practice as a hole.
[Mh] Termos MeSH primário: Síndrome de Kallmann/diagnóstico
Transtornos do Olfato/etiologia
[Mh] Termos MeSH secundário: Adolescente
Criança
Feminino
Seres Humanos
Hipogonadismo/etiologia
Síndrome de Kallmann/complicações
Transtornos do Olfato/diagnóstico
Otolaringologia
Olfato
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170814
[St] Status:MEDLINE


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[PMID]:28780519
[Au] Autor:Nie M; Xu H; Chen R; Mao J; Wang X; Xiong S; Zheng J; Yu B; Cui M; Ma W; Huang Q; Zhang H; Wu X
[Ad] Endereço:Department of EndocrinologyPeking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key laboratory of Endocrine, Ministry of Health, Beijing, China.
[Ti] Título:Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with mutations.
[So] Source:Eur J Endocrinol;177(4):389-398, 2017 Oct.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To analyze gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients with mutations. PATIENTS AND METHODS: Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients' gene sequences were analyzed by direct sequencing of PCR-amplified products. analysis was used to assess functional relevance of newly identified missense mutations. Patients' clinical characteristics were analyzed retrospectively. RESULTS: Fifteen nonsynonymous rare variants were found in 13 out of 187 sporadic and 8 out of 23 familial IHH probands. Seven novel (C86F, C90Y, C151W, Y379X, c.1062 + 1G > A, Y579L fs 591X, R597X) and eight recurrent mutations (S38X, R257X, R262X, R423X, R424X, V560I, c.1843-1G > A, p.R631X) were identified. All the novel mutations were predicted to be pathogenic. The prevalence of cryptorchidism was high (38.1%) and occurred in patients with different kind of mutations, while the patients with the same mutation did not present with cryptorchidism uniformly. CONCLUSIONS: The prevalence of gene mutations is low in sporadic KS patients, but is much higher in familial KS patients. In the present study, we identify seven novel mutations, including two mutations in the CR domain, which are probably pathogenic. These mutations expand the mutation spectrum and provide a foundation for prenatal diagnosis and genetic counseling.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Proteínas da Matriz Extracelular/genética
Síndrome de Kallmann/diagnóstico
Síndrome de Kallmann/genética
Mutação/genética
Proteínas do Tecido Nervoso/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Estudos de Coortes
Seres Humanos
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Extracellular Matrix Proteins); 0 (KAL1 protein, human); 0 (Nerve Tissue Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170807
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0335


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[PMID]:28411082
[Au] Autor:Luo H; Zheng R; Zhao Y; Wu J; Li J; Jiang F; Chen DN; Zhou XT; Li JD
[Ad] Endereço:State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
[Ti] Título:A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.
[So] Source:Gene;621:1-4, 2017 Jul 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia. Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients. FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. In this study, we identified a novel FGFR1 mutation (c.867G>A; p.W289X) in a KS patient. The p.W289X mutation leads premature termination, producing a truncated FGFR1 without the transmembrane and intracellular domains. Indeed, the W289X FGFR1 was secreted into culture medium. Further, W289X FGFR1 interfered with the function of wild type receptor to induce ERK1/2 phosphorylation. We therefore identified a dominant negative FGFR1 mutation in the KS patient, and this mutant FGFR1 may be used to decipher the physiological function of FGFR1.
[Mh] Termos MeSH primário: Síndrome de Kallmann/genética
Mutação
Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Genes Dominantes
Células HEK293
Seres Humanos
Síndrome de Kallmann/patologia
Masculino
Proteína Quinase 1 Ativada por Mitógeno/metabolismo
Proteína Quinase 3 Ativada por Mitógeno/metabolismo
Transporte Proteico
Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/metabolismo
Terminação da Transcrição Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (FGFR1 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 1); EC 2.7.11.24 (Mitogen-Activated Protein Kinase 1); EC 2.7.11.24 (Mitogen-Activated Protein Kinase 3)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170615
[Lr] Data última revisão:
170615
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170416
[St] Status:MEDLINE


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[PMID]:28334861
[Au] Autor:Marcos S; Monnier C; Rovira X; Fouveaut C; Pitteloud N; Ango F; Dodé C; Hardelin JP
[Ad] Endereço:EA7331, Genetics, Pathophysiology, and Therapeutic Approaches for Hereditary Diseases of the Nervous System, Faculty of Pharmaceutical and Biological Sciences, Paris-Descartes University, 75006 Paris, France.
[Ti] Título:Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
[So] Source:Hum Mol Genet;26(11):2006-2017, 2017 Jun 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This is a genetically heterogeneous developmental disease with various modes of transmission, including oligogenic inheritance. Previous reports have involved defective cell signaling by semaphorin-3A in the disease pathogenesis. Here, we report that the embryonic phenotype of Plxna1-/- mutant mice lacking plexin-A1 (a major receptor of class 3 semaphorins), though not fully penetrant, resembles that of Kallmann syndrome fetuses. Pathohistological analysis indeed showed a strongly abnormal development of the peripheral olfactory system and defective embryonic migration of the neuroendocrine GnRH cells to the hypothalamic brain region in some of the mutant mice, which resulted in reduced fertility in adult males. We thus screened 250 patients for the presence of mutations in PLXNA1, and identified different nonsynonymous mutations (p.V349L, p.V437L, p.R528W, p.H684Y, p.G720E, p.R740H, p.R813H, p.R840Q, p.A854T, p.R897H, p.L1464V, p.K1618T, p.C1744F), all at heterozygous state, in 15 patients. Most of these mutations are predicted to affect plexin-A1 stability or signaling activity based on predictive algorithms and a structural model of the protein. Moreover, in vitro experiments allowed us to show the existence of deleterious effects of eight mutations (including a transcript splicing defect), none of which are expected to result in a complete loss of protein synthesis, targeting, or signaling activity, though. Our findings indicate that signaling insufficiency through plexin-A1 can contribute to the pathogenesis of Kallmann syndrome, and further substantiate the oligogenic pattern of inheritance in this developmental disorder.
[Mh] Termos MeSH primário: Síndrome de Kallmann/metabolismo
Proteínas do Tecido Nervoso/genética
Proteínas do Tecido Nervoso/metabolismo
Receptores de Superfície Celular/genética
Receptores de Superfície Celular/metabolismo
[Mh] Termos MeSH secundário: Adulto
Animais
Movimento Celular
Feminino
Hormônio Liberador de Gonadotropina/deficiência
Heterozigoto
Seres Humanos
Hipogonadismo/genética
Hipotálamo/metabolismo
Masculino
Camundongos
Mutação
Proteínas do Tecido Nervoso/fisiologia
Células Neuroendócrinas/metabolismo
Neurônios/metabolismo
Bulbo Olfatório/fisiologia
Receptores de Superfície Celular/fisiologia
Reprodução
Semaforina-3A/genética
Semaforina-3A/metabolismo
Semaforinas/metabolismo
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nerve Tissue Proteins); 0 (PLXNA1 protein, human); 0 (Plxna1 protein, mouse); 0 (Receptors, Cell Surface); 0 (Semaphorin-3A); 0 (Semaphorins); 33515-09-2 (Gonadotropin-Releasing Hormone)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx080


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[PMID]:28324054
[Au] Autor:Turan I; Hutchins BI; Hacihamdioglu B; Kotan LD; Gurbuz F; Ulubay A; Mengen E; Yuksel B; Wray S; Topaloglu AK
[Ad] Endereço:Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
[Ti] Título:CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
[So] Source:J Clin Endocrinol Metab;102(6):1816-1825, 2017 Jun 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Gonadotropin-releasing hormone neurons originate outside the central nervous system in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS. Design: Using autozygosity mapping, candidate gene screening, whole-exome sequencing, and Sanger sequencing, those individuals carrying deleterious CDCD141 variants and their phenotypes were determined in a cohort of 120 IHH/KS families. Patients and Interventions: No interventions were made. Results: Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3.3%. Affected individuals (with the exception of those from family 1 who concomitantly have FEZF1 mutations) have normal olfactory function and anatomically normal olfactory bulbs. Four affected individuals show evidence of clinical reversibility. In three of the families, there was at least one more potentially deleterious variant in other known puberty genes with evidence of allelic heterogeneity within respective pedigrees. Conclusions: These studies confirm that inactivating CCDC141 variants cause normosmic IHH but not KS. This is consistent with our previous in vitro experiments showing exclusively impaired embryonic migration of GnRH neurons upon CCDC141 knockdown. These studies expand the clinical and genetic spectrum of IHH and also attest to the complexity of phenotype and genotype in IHH.
[Mh] Termos MeSH primário: Hipogonadismo/genética
Proteínas do Tecido Nervoso/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Genótipo
Seres Humanos
Síndrome de Kallmann/genética
Masculino
Meia-Idade
Mutação
Linhagem
Fenótipo
Análise de Sequência de DNA
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CCDC141 protein, human); 0 (Nerve Tissue Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-3391


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[PMID]:28324034
[Au] Autor:Bry-Gauillard H; Larrat-Ledoux F; Levaillant JM; Massin N; Maione L; Beau I; Binart N; Chanson P; Brailly-Tabard S; Hall JE; Young J
[Ad] Endereço:Assistance Publique-Hôpitaux de Paris.
[Ti] Título:Anti-Müllerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH.
[So] Source:J Clin Endocrinol Metab;102(4):1102-1111, 2017 Apr 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Isolated hypogonadotropic hypogonadism (IHH), characterized by gonadotropin deficiency and absent puberty, is very rare in women. IHH prevents pubertal ovarian stimulation, but anti-Müllerian hormone (AMH) and antral follicle count (AFC) have not been studied. Objectives: (1) To compare, in IHH vs controls, AMH, ovarian volume (OV), and AFC. (2) To compare, in IHH, ovarian responses to recombinant human follicle-stimulating hormone (rhFSH) and rhFSH plus recombinant human luteinizing hormone (rhLH). Subjects: Sixty-eight IHH women; 51 matched healthy women. Methods: Serum LH, FSH, sex steroids, inhibin B (InhB), AMH, and OV and AFC (sonography) were compared. Ovarian response during rhFSH administration was assessed in 12 IHH women with low AMH levels and low AFC and compared with hormonal changes observed in six additional IHH women receiving rhFSH plus rhLH. Results: InhB was lower in IHH than in controls. AMH levels were also significantly lower in the patients, but two-thirds had normal values. Mean OV and total, larger, and smaller AFCs were lower in IHH than in controls. Ovarian stimulation by rhFSH led to a significant increase in serum estradiol and InhB levels and in the number of larger antral follicles. AMH and smaller AFC increased early during rhFSH stimulation but then declined despite continued stimulation. rhFSH plus rhLH stimulation led to a significantly higher increase in estradiol levels but to similar changes in circulating InhB and AMH than with rhFSH alone. Conclusions: IHH women have both low AMH levels and low AFC. However, their decrease can be reversed by follicle-stimulating hormone. Serum AMH and AFC should not serve as prognostic markers of fertility in this population.
[Mh] Termos MeSH primário: Hormônio Antimülleriano/sangue
Hormônio Foliculoestimulante Humano/farmacologia
Hipogonadismo
Síndrome de Kallmann
Ovário/efeitos dos fármacos
Ovário/patologia
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Feminino
Hormônio Foliculoestimulante Humano/uso terapêutico
Terapia de Reposição Hormonal
Seres Humanos
Hipogonadismo/sangue
Hipogonadismo/tratamento farmacológico
Hipogonadismo/patologia
Síndrome de Kallmann/sangue
Síndrome de Kallmann/tratamento farmacológico
Síndrome de Kallmann/patologia
Hormônio Luteinizante/farmacologia
Hormônio Luteinizante/uso terapêutico
Tamanho do Órgão/efeitos dos fármacos
Indução da Ovulação/métodos
Proteínas Recombinantes/farmacologia
Proteínas Recombinantes/uso terapêutico
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Follicle Stimulating Hormone, Human); 0 (Recombinant Proteins); 80497-65-0 (Anti-Mullerian Hormone); 9002-67-9 (Luteinizing Hormone)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-3799


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[PMID]:28017217
[Au] Autor:Vale TC; Pedroso JL; Rivero RLM; Mandeli AS; Dias-da-Silva MR; Barsottini OG
[Ad] Endereço:Department of Internal Medicine, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil.
[Ti] Título:Lack of decussation of pyramids in Kallmann syndrome presenting with mirror movements.
[So] Source:J Neurol Sci;372:220-222, 2017 Jan 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome de Kallmann/complicações
Síndrome de Kallmann/patologia
Transtornos dos Movimentos/etiologia
Tratos Piramidais/patologia
[Mh] Termos MeSH secundário: Adulto
Imagem de Tensor de Difusão
Proteínas da Matriz Extracelular/genética
Seres Humanos
Imagem Tridimensional
Síndrome de Kallmann/diagnóstico por imagem
Síndrome de Kallmann/genética
Masculino
Córtex Motor/diagnóstico por imagem
Transtornos dos Movimentos/diagnóstico por imagem
Mutação/genética
Proteínas do Tecido Nervoso/genética
Desempenho Psicomotor/fisiologia
Tratos Piramidais/diagnóstico por imagem
[Pt] Tipo de publicação:CASE REPORTS; LETTER; VIDEO-AUDIO MEDIA
[Nm] Nome de substância:
0 (Extracellular Matrix Proteins); 0 (KAL1 protein, human); 0 (Nerve Tissue Proteins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161227
[St] Status:MEDLINE


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[PMID]:27502037
[Au] Autor:Quaynor SD; Bosley ME; Duckworth CG; Porter KR; Kim SH; Kim HG; Chorich LP; Sullivan ME; Choi JH; Cameron RS; Layman LC
[Ad] Endereço:Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, GA, United States; University of Chicago, Department of Neurology, Chicago, IL, United States.
[Ti] Título:Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
[So] Source:Mol Cell Endocrinol;437:86-96, 2016 Dec 05.
[Is] ISSN:1872-8057
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:The genetic basis is unknown for ∼60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from (17 male and 31 female) nHH/KS patients were analyzed by targeted next generation sequencing (NGS) of 261 genes involved in hypothalamic, pituitary, and/or olfactory pathways, or suggested by chromosome rearrangements. Selected variants were subjected to Sanger DNA sequencing, the gold standard. The frequency of Sanger-confirmed variants was determined using the ExAC database. Variants were classified as likely pathogenic (frameshift, nonsense, and splice site) or predicted pathogenic (nonsynonymous missense). Two novel FGFR1 mutations were identified, as were 18 new candidate genes including: AMN1, CCKBR, CRY1, CXCR4, FGF13, GAP43, GLI3, JAG1, NOS1, MASTL, NOTCH1, NRP2, PALM2, PDE3A, PLEKHA5, RD3, and TRAPPC9, and TSPAN11. Digenic and trigenic variants were found in 8/48 (16.7%) and 1/48 (2.1%) patients, respectively. NGS with confirmation by Sanger sequencing resulted in the identification of new causative FGFR1 gene mutations and suggested 18 new candidate genes in nHH/KS.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Hipogonadismo/genética
Síndrome de Kallmann/genética
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Mutação/genética
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160810
[St] Status:MEDLINE



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