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Pesquisa : C19.391 [Categoria DeCS]
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[PMID]:27974295
[Au] Autor:Mooij CF; Webb EA; Claahsen van der Grinten HL; Krone N
[Ad] Endereço:Institute of Metabolism and Systems Research, Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Birmingham, UK.
[Ti] Título:Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia.
[So] Source:Arch Dis Child;102(6):578-584, 2017 Jun.
[Is] ISSN:1468-2044
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:After the introduction of replacement therapy with glucocorticoids and mineralocorticoids in the 1950s, congenital adrenal hyperplasia (CAH) is no longer a life-limiting condition. However, due to the successful introduction of medical steroid hormone replacement, CAH has become a chronic condition, with associated comorbidities and long-term health implications. The aim of treatment is the replacement of mineralocorticoids and glucocorticoids and the normalisation of elevated androgen concentrations. Long-term consequences of the condition and current treatment regimens include unfavourable changes in the cardiovascular risk profile, impaired growth, testicular adrenal rest tumours (TART) in male and subfertility in both male and female patients with CAH. Optimising replacement therapy in patients with CAH remains challenging. On one hand, treatment with supraphysiological doses of glucocorticoids might be required to normalise androgen concentrations and decrease size or presence of TARTs. On the other hand, treatment with supraphysiological doses of glucocorticoids is associated with an increased prevalence of unfavourable cardiovascular and metabolic risk profiles as well as impaired longitudinal growth and gonadal function. Therefore, treatment of children and adults with CAH requires an individualised approach. Careful monitoring for early signs of complications is already warranted during paediatric healthcare provision to prevent and reduce the impact of comorbidities in later life.
[Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/complicações
Doenças Cardiovasculares/etiologia
Transtornos Gonadais/etiologia
Transtornos do Crescimento/etiologia
[Mh] Termos MeSH secundário: Adolescente
Hiperplasia Suprarrenal Congênita/tratamento farmacológico
Tumor de Resto Suprarrenal/etiologia
Criança
Glucocorticoides/efeitos adversos
Glucocorticoides/uso terapêutico
Terapia de Reposição Hormonal/efeitos adversos
Terapia de Reposição Hormonal/métodos
Seres Humanos
Masculino
Neoplasias Testiculares/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Glucocorticoids)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161216
[St] Status:MEDLINE
[do] DOI:10.1136/archdischild-2016-311910


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[PMID]:28033664
[Au] Autor:Eid W; Biason-Lauber A
[Ad] Endereço:Division of Endocrinology, Department of Medicine, University of Fribourg, Fribourg, Switzerland.
[Ti] Título:Why boys will be boys and girls will be girls: Human sex development and its defects.
[So] Source:Birth Defects Res C Embryo Today;108(4):365-379, 2016 Dec.
[Is] ISSN:1542-9768
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Among the most defining events of an individual's life, is the development of a human embryo into male or a female. The phenotypic sex of an individual depends on the type of gonad that develops in the embryo, a process which itself is determined by the genetic setting of the individual. The development of the gonads is different from any other organ, as they possess the potential to differentiate into two functionally distinct organs, testes, or ovaries. Sex development can be divided into two distinctive processes, "sex determination," which is the commitment of the undifferentiated gonad into either a testis or an ovary, a process that is genetically programmed in a critically timed manner and "sex differentiation," which takes place through hormones produced by the gonads, once the developmental sex determination decision has been made. Disruption of any of the genes involved in either the testicular or ovarian development pathway could lead to disorders of sex development. In this review, we provide an insight into the factors important for sex determination, their antagonistic actions and whenever possible, references on the "prismatic" clinical cases are given. Birth Defects Research (Part C) 108:365-379, 2016. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Diferenciação Sexual/fisiologia
Desenvolvimento Sexual/genética
[Mh] Termos MeSH secundário: Animais
Transtornos do Desenvolvimento Sexual/metabolismo
Desenvolvimento Embrionário
Feminino
Regulação da Expressão Gênica no Desenvolvimento/genética
Transtornos Gonadais
Gônadas
Seres Humanos
Masculino
Diferenciação Sexual/genética
Desenvolvimento Sexual/fisiologia
Testículo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170823
[Lr] Data última revisão:
170823
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161230
[St] Status:MEDLINE
[do] DOI:10.1002/bdrc.21143


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[PMID]:28033663
[Au] Autor:Croft B; Ayers K; Sinclair A; Ohnesorg T
[Ad] Endereço:Murdoch Children's Research Institute, Melbourne, Victoria, Australia and The Hudson Institute of Medical Research, Monash University, Melbourne, Victoria, Australia.
[Ti] Título:Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.
[So] Source:Birth Defects Res C Embryo Today;108(4):337-350, 2016 Dec.
[Is] ISSN:1542-9768
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning. While Massively Parallel Sequencing (MPS) is advancing the genetic diagnosis of rare Mendelian disorders, it is not yet clear which MPS assay is best suited for the clinical diagnosis of DSD patients and to what extent other established methods are still relevant. To complicate matters, DSDs represent a wide spectrum of disorders caused by an array of different genetic changes, many of which are yet unknown. Here we discuss the different genetic lesions that are known to contribute to different DSDs, and review the utility of a range of MPS approaches for diagnosing DSD patients. Birth Defects Research (Part C) 108:337-350, 2016. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/diagnóstico
Transtornos do Desenvolvimento Sexual/genética
[Mh] Termos MeSH secundário: Animais
Variações do Número de Cópias de DNA
Transtornos do Desenvolvimento Sexual/metabolismo
Estudos de Associação Genética
Predisposição Genética para Doença
Testes Genéticos
Genômica/métodos
Transtornos Gonadais/genética
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Sequenciamento de Nucleotídeos em Larga Escala/utilização
Seres Humanos
Desenvolvimento Sexual/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170823
[Lr] Data última revisão:
170823
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161230
[St] Status:MEDLINE
[do] DOI:10.1002/bdrc.21148


  4 / 170 MEDLINE  
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Mendonça, Berenice Bilharinho de
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[PMID]:28033660
[Au] Autor:Domenice S; Machado AZ; Ferreira FM; Ferraz-de-Souza B; Lerario AM; Lin L; Nishi MY; Gomes NL; da Silva TE; Silva RB; Correa RV; Montenegro LR; Narciso A; Costa EM; Achermann JC; Mendonca BB
[Ad] Endereço:Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat
[Ti] Título:Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
[So] Source:Birth Defects Res C Embryo Today;108(4):309-320, 2016 12.
[Is] ISSN:1542-9768
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype-phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian-determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1-related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever-expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction. Birth Defects Research (Part C) 108:309-320, 2016. © 2016 The Authors Birth Defects Research Part C: Embryo Today: Reviews Published by Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Fator Esteroidogênico 1/genética
Fator Esteroidogênico 1/fisiologia
[Mh] Termos MeSH secundário: Adolescente
Insuficiência Adrenal
Adulto
Brasil
Criança
Pré-Escolar
Transtornos do Desenvolvimento Sexual/genética
Transtornos do Desenvolvimento Sexual/metabolismo
Feminino
Transtornos Gonadais/genética
Transtornos Gonadais/metabolismo
Seres Humanos
Lactente
Masculino
Mutação
Fenótipo
Insuficiência Ovariana Primária/genética
Insuficiência Ovariana Primária/metabolismo
Fator Esteroidogênico 1/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (NR5A1 protein, human); 0 (Steroidogenic Factor 1)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170823
[Lr] Data última revisão:
170823
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161230
[St] Status:MEDLINE
[do] DOI:10.1002/bdrc.21145


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[PMID]:27135528
[Au] Autor:Nistal M; Paniagua R; González-Peramato P; Reyes-Múgica M
[Ad] Endereço:1 Department of Pathology, Hospital La Paz, Universidad Autónoma de Madrid, Madrid, Spain.
[Ti] Título:Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.
[So] Source:Pediatr Dev Pathol;19(4):291-309, 2016 Jul-Aug.
[Is] ISSN:1093-5266
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Transtornos Gonadais
Hipogonadismo
Maturidade Sexual/fisiologia
[Mh] Termos MeSH secundário: Criança
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170113
[Lr] Data última revisão:
170113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160503
[St] Status:MEDLINE
[do] DOI:10.2350/16-04-1810-PB.1


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[PMID]:26934627
[Au] Autor:Hamed SA
[Ad] Endereço:a Department of Neurology and Psychiatry , Assiut University Hospital , Assiut , Egypt.
[Ti] Título:The effect of epilepsy and antiepileptic drugs on sexual, reproductive and gonadal health of adults with epilepsy.
[So] Source:Expert Rev Clin Pharmacol;9(6):807-19, 2016 Jun.
[Is] ISSN:1751-2441
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Epilepsy is a common chronic medical illness. Hyposexuality is the most frequent abnormality in men and women with epilepsy. In men with epilepsy, hypoandrogenimia, hypogonadism and sperm abnormalities are common. Testicular atrophy was also infrequently reported. In women with epilepsy, hyperandrogenism, polycystic ovaries (PCOs) and PCO syndrome are frequent. Decreased serum free testosterone, dehydroepiandrosterone levels, free androgen index and free testosterone/leutinizing hormone (LH) ratio and increased sex hormone binding globulin, estradiol, prolactin, LH, follicle stimulating hormone (FSH) levels and LH/FSH ratio are common with epilepsy. Disturbance of central and/or peripheral control of hypothalamic-pituitary-gonadal axis and alteration of central neurotrasmitters (GABA, glutamate and serotonin) by epileptic discharges or antiepileptic drugs (AEDs), direct gonadal toxicity by AEDs and pcyshicatric/psychosocial factors are all incriminated in sexual, reproductive and gonadal abnormalities associated with epilepsy. Patients may benefit from multidisplinary evaluation, tight seizure control, change the AED, androgen therapy, genital vasodilators, L-carnitine supplementation and psychotherapy.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Epilepsia/tratamento farmacológico
Disfunções Sexuais Fisiológicas/etiologia
[Mh] Termos MeSH secundário: Adulto
Animais
Anticonvulsivantes/efeitos adversos
Epilepsia/complicações
Feminino
Transtornos Gonadais/etiologia
Hormônios Esteroides Gonadais/metabolismo
Seres Humanos
Masculino
Reprodução/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Gonadal Steroid Hormones)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170310
[Lr] Data última revisão:
170310
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160303
[St] Status:MEDLINE
[do] DOI:10.1586/17512433.2016.1160777


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[PMID]:26852256
[Au] Autor:Abreu AP; Kaiser UB
[Ad] Endereço:Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
[Ti] Título:Pubertal development and regulation.
[So] Source:Lancet Diabetes Endocrinol;4(3):254-64, 2016 Mar.
[Is] ISSN:2213-8595
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Puberty marks the end of childhood and is a period when individuals undergo physiological and psychological changes to achieve sexual maturation and fertility. The hypothalamic-pituitary-gonadal axis controls puberty and reproduction and is tightly regulated by a complex network of excitatory and inhibitory factors. This axis is active in the embryonic and early postnatal stages of life and is subsequently restrained during childhood, and its reactivation culminates in puberty initiation. The mechanisms underlying this reactivation are not completely known. The age of puberty onset varies between individuals and the timing of puberty initiation is associated with several health outcomes in adult life. In this Series paper, we discuss pubertal markers, epidemiological trends of puberty initiation over time, and the mechanisms whereby genetic, metabolic, and other factors control secretion of gonadotropin-releasing hormone to determine initiation of puberty.
[Mh] Termos MeSH primário: Sistema Hipotálamo-Hipofisário/fisiologia
Sistema Hipófise-Suprarrenal/fisiologia
Puberdade
[Mh] Termos MeSH secundário: Adolescente
Criança
Feminino
Transtornos Gonadais/fisiopatologia
Hormônio Liberador de Gonadotropina/secreção
Seres Humanos
Kisspeptinas/fisiologia
Masculino
Proteínas de Ligação a RNA/fisiologia
Ribonucleoproteínas/fisiologia
Maturidade Sexual
Taquicininas/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; REVIEW
[Nm] Nome de substância:
0 (KISS1 protein, human); 0 (Kisspeptins); 0 (LIN28B protein, human); 0 (MKRN3 protein, human); 0 (RNA-Binding Proteins); 0 (Ribonucleoproteins); 0 (Tachykinins); 33515-09-2 (Gonadotropin-Releasing Hormone)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170512
[Lr] Data última revisão:
170512
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160208
[St] Status:MEDLINE


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[PMID]:26809023
[Au] Autor:Nistal M; Paniagua R; González-Peramato P; Reyes-Múgica M
[Ad] Endereço:1 Department of Pathology, Hospital La Paz, Universidad Autónoma de Madrid, Madrid, Spain.
[Ti] Título:Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms.
[So] Source:Pediatr Dev Pathol;19(4):278-90, 2016 Jul-Aug.
[Is] ISSN:1093-5266
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Transtornos Gonadais
Hipogonadismo
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Seres Humanos
Lactente
Recém-Nascido
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170113
[Lr] Data última revisão:
170113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160126
[St] Status:MEDLINE
[do] DOI:10.2350/16-01-1755-PB.1


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[PMID]:26472222
[Au] Autor:Tassinari J; Sisti A
[Ad] Endereço:, Via Naldi 17, Brisighella, Italy. info@dottorjuritassinari.it.
[Ti] Título:Endocrinology and art. First dwarf represented: ancient Egypt 2520 B.C.
[So] Source:J Endocrinol Invest;39(4):489, 2016 Apr.
[Is] ISSN:1720-8386
[Cp] País de publicação:Italy
[La] Idioma:eng
[Mh] Termos MeSH primário: Nanismo/história
Transtornos Gonadais/história
Medicina nas Artes
Escultura/história
[Mh] Termos MeSH secundário: Criança
Antigo Egito
Feminino
História Antiga
Seres Humanos
Masculino
[Pt] Tipo de publicação:HISTORICAL ARTICLE; JOURNAL ARTICLE
[Em] Mês de entrada:1612
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151017
[St] Status:MEDLINE
[do] DOI:10.1007/s40618-015-0396-2


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[PMID]:26446509
[Au] Autor:Rajasilta M; Elfving M; Hänninen J; Laine P; Vuorinen I; Paranko J
[Ad] Endereço:Archipelago Research Institute, University of Turku, 20014, Turku, Finland. marjut.rajasilta@utu.fi.
[Ti] Título:Morphological abnormalities in gonads of the Baltic herring (Clupea harengus membras): Description of types and prevalence in the northern Baltic Sea.
[So] Source:Ambio;45(2):205-14, 2016 Mar.
[Is] ISSN:1654-7209
[Cp] País de publicação:Sweden
[La] Idioma:eng
[Ab] Resumo:Due to heavy anthropogenic influence and variation of the environmental conditions in the Baltic Sea, reproductive disorders are becoming a major environmental concern. We show here an increasing prevalence of gonadal malformations in the Baltic herring (Clupea harengus membras), a key species of the Baltic ecosystem and important in commercial fishery. During 1987-2014, the spawning herring population in the Archipelago Sea (AS) (North Baltic Sea, Finland) was monitored annually and analyzed for gross morphology of the gonads [total number (n) of analyzed fish = 38 284]. Four different types of malformations were repeatedly found and named as asymmetric, rudimentary, segmented, and branched gonads, but also hermaphroditic gonads and miscellaneous (unidentified) disorders were recorded. In 2013, additional samplings (n of fish analyzed = 541) showed similar malformations in herring from the Bothnian Sea. In some gonad types, histological examination revealed disintegration of seminiferous tubules and hyperplasia of the interstitial tissue. In 2014, the overall prevalence of malformations was still relatively low in the AS (frequency = 0-3.4 %; n = 750) and had apparently minimal effect on population recruitment. However, an increasing trend in the time-series (GLM; F = 32.65; p < 0.001) and a significantly higher prevalence in the Bothnian Sea (frequency = 0.7-5.0 %; n = 541; χ (2) = 6.24; p < 0.05) suggest that gonadal malformations may become a new threat for fish in the Baltic Sea. The observed gonad atrophies may be due to environmental endocrine disruption; however, also other explanations may exist and potential explanations are discussed.
[Mh] Termos MeSH primário: Doenças dos Peixes/epidemiologia
Transtornos Gonadais/epidemiologia
Gônadas/patologia
[Mh] Termos MeSH secundário: Animais
Feminino
Finlândia/epidemiologia
Doenças dos Peixes/patologia
Peixes
Transtornos Gonadais/patologia
Masculino
Prevalência
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1611
[Cu] Atualização por classe:170301
[Lr] Data última revisão:
170301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151009
[St] Status:MEDLINE
[do] DOI:10.1007/s13280-015-0717-x



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