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Pesquisa : C12.706.316.096.500 [Categoria DeCS]
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  1 / 1836 MEDLINE  
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[PMID]:28456808
[Au] Autor:Batista RL; Rodrigues AS; Nishi MY; Feitosa ACR; Gomes NLRA; Junior JAF; Domenice S; Costa EMF; de Mendonça BB
[Ad] Endereço:Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Laboratório de Hormônios e Genética Molecular (LIM/42), Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
[Ti] Título:Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.
[So] Source:Sex Dev;11(2):78-81, 2017.
[Is] ISSN:1661-5433
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. This is the first report of a female patient with 47,XXY karyotype and PAIS phenotype.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/genética
Códon sem Sentido/genética
Predisposição Genética para Doença
Cariótipo
Mutação/genética
Receptores Androgênicos/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Éxons/genética
Feminino
Heterozigoto
Homozigoto
Seres Humanos
Masculino
Repetições de Microssatélites/genética
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (AR protein, human); 0 (Codon, Nonsense); 0 (Receptors, Androgen)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE
[do] DOI:10.1159/000468957


  2 / 1836 MEDLINE  
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[PMID]:29051026
[Au] Autor:Ramos L; Chávez B; Mares L; Valdés E; Vilchis F
[Ad] Endereço:Department of Reproductive Biology, Instituto Nacional de Ciencias Médicas y Nutrición S.Z., Mexico.
[Ti] Título:Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD.
[So] Source:Gene;641:86-93, 2018 Jan 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed mutational analyses to identify AR molecular defects, in individuals with 46,XY disorders of sex development (46,XY DSD) and a presumptive diagnosis of AIS. Eighteen different gene mutations, including seven previously unreported new variants, were detected in 26 unrelated cases. These included two deletion mutations (P49fs*185 and E308f*320) in exon 1 and five substitution mutations (p.S792P, p.D829G, p.R832P, p.L839F, and p.K906E) located in the steroid-binding domain. Expression analyses of mutants generated by site-directed mutagenesis indicated that these new gene variants impaired AR function by affecting its binding activity. Seventeen of 18 mutations likely lead to reduced or absent responses to androgens, which may in turn account for the different degrees of undermasculinization observed. Our study provides insight into the functional consequences of these mutations.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/genética
Transtornos do Desenvolvimento Sexual/genética
Receptores Androgênicos/genética
Diferenciação Sexual/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Análise Mutacional de DNA
Feminino
Seres Humanos
Lactente
Masculino
México
Mutação/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Androgen)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180110
[Lr] Data última revisão:
180110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE


  3 / 1836 MEDLINE  
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Mendonça, Berenice Bilharinho de
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[PMID]:28743543
[Au] Autor:Batista RL; Rodrigues ADS; Nishi MY; Gomes NL; Faria JAD; Moraes DR; Carvalho LR; Costa EMF; Domenice S; Mendonca BB
[Ad] Endereço:Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. Electronic address: rafael.loch@hc.fm.usp.br.
[Ti] Título:A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.
[So] Source:J Steroid Biochem Mol Biol;174:14-16, 2017 11.
[Is] ISSN:1879-1220
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS). The analysis of mRNA from testis showed that synonymous AR mutation changed the natural exon 1 donor splice site, with deletion of the last 92 nucleotides of the AR exon 1 leading to a premature stop codon 12 positions ahead resulting in a truncate AR protein. Linkage analyses suggested a probable founder effect for this mutation. In conclusion, we described the first synonymous AR mutation associated with CAIS phenotype, reinforcing the disease-causing role of synonymous mutations.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/genética
Receptores Androgênicos/genética
[Mh] Termos MeSH secundário: Adulto
Síndrome de Resistência a Andrógenos/sangue
Pré-Escolar
Hormônio Foliculoestimulante/sangue
Seres Humanos
Hormônio Luteinizante/sangue
Masculino
Mutação
Testosterona/sangue
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (AR protein, human); 0 (Receptors, Androgen); 3XMK78S47O (Testosterone); 9002-67-9 (Luteinizing Hormone); 9002-68-0 (Follicle Stimulating Hormone)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171208
[Lr] Data última revisão:
171208
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE


  4 / 1836 MEDLINE  
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[PMID]:28186600
[Au] Autor:Zhang X; Zeng J; Lin Y; Tu X
[Ad] Endereço:PLA Center for Laboratory Medicine, Fuzhou General Hospital, Fuzhou, Fujian 350025, China. tuxdmed@126.com.
[Ti] Título:[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(1):78-80, 2017 Feb 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members. METHODS: Total RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing. RESULTS: DNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H). CONCLUSION: A prenatal diagnostic method was established for detecting mutation of the AR gene in the pedigree. Long chain RT-PCR was first used for the detection of AR gene mutations.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/genética
Mutação de Sentido Incorreto
Receptores Androgênicos/genética
Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos
[Mh] Termos MeSH secundário: Sequência de Bases
Criança
Análise Mutacional de DNA/métodos
Saúde da Família
Feminino
Seres Humanos
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Androgen)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170211
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.01.018


  5 / 1836 MEDLINE  
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[PMID]:27998513
[Au] Autor:Khorashad BS; Roshan GM; Reid AG; Aghili Z; Hiradfar M; Afkhamizadeh M; Talaei A; Aarabi A; Ghaemi N; Taghehchian N; Saberi H; Farahi N; Abbaszadegan MR
[Ad] Endereço:Transgender Studies Center, Mashhad University of Medical Sciences, Mashhad, Iran; Psychiatry and Behavioral Sciences Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address: sorourib2@mums.ac.ir.
[Ti] Título:Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia.
[So] Source:J Psychosom Res;92:55-62, 2017 Jan.
[Is] ISSN:1879-1360
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. METHODS: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents. RESULTS: Five percent of CAH participants and 42% of CAIS participants were in a relationship, which was significantly different. All CAH individuals had been diagnosed at birth; 89% of CAIS had been diagnosed after puberty and due to primary amenorrhea and 11% were diagnosed in childhood due to inguinal hernia. Genital reconstructive surgery had been performed in 100% of CAH participants and 37% of CAIS. Regarding sexual contact experiences and sexual fantasies (androphilic, gynephilic or both), no significant differences were found. However, CAH females had significantly more gynephilic dreams (P=0.045). CONCLUSION: This study, notable as one of the rare from a non-western culture, described sexual, medical and socioeconomic status of 46,XX CAH and 46,XY CAIS individuals living in Iran. Although broadly in line with previous findings from Western cultures, Iranian CAH individuals had fewer romantic relationships, but in contrast to previous studies their sexual orientation was only different from CAIS in the contents of sexual dreams.
[Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/psicologia
Síndrome de Resistência a Andrógenos/psicologia
Comportamento Sexual
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Feminino
Identidade de Gênero
Seres Humanos
Irã (Geográfico)
Masculino
Anamnese
Comportamento Sexual/psicologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE


  6 / 1836 MEDLINE  
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[PMID]:27862157
[Au] Autor:Huang H; Wang C; Tian Q
[Ad] Endereço:Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
[Ti] Título:Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
[So] Source:Clin Endocrinol (Oxf);86(4):621-627, 2017 Apr.
[Is] ISSN:1365-2265
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed. Tumour histopathological types, risks and clinical characteristics were evaluated. RESULTS: The tumours in DSD included gonadoblastoma, seminoma, dysgerminoma, Sertoli cell tumour, yolk sac tumour and choriocarcinoma. The overall GCTs risk was 15·41% and 46, XY pure gonadal dysgenesis (46, XY PGD) carried the highest risk up to 23·33%, followed by complete androgen insensitivity syndrome (CAIS). The risk of mixed gonadal dysgenesis (GD) or 46, XY 17 alpha-hydroxylase/17, 20-lyase deficiency (46, XY 17 OHD) was <10%, and no tumour was found in five testis regression patients. The ages (years) of tumour diagnosed ranged from 11 to 29 [18 (15, 21) years]. The median age of androgen insensitivity syndrome (AIS) with tumours was comparatively late [19 (18, 24) years], while GCTs occurred during adolescence in 46, XY PGD [17 (15, 20) years] and mixed GD [15 (15, 17) years]. Sex hormone levels were generally unaffected by gonadal GCTs. The positive tumour marker rate before surgery was 58·82% (10/17). Elevated lactate dehydrogenase (LDH) was observed in six cases with dysgerminoma/seminoma. Remarkably elevated α-fetoprotein (AFP) or human chorionic gonadotropin (hCG) was seen in cases with yolk sac tumour or choriocarcinoma, respectively. Mild hyperandrogenism was observed in seven cases with GCTs. Fourteen of 17 pelvic masses found before operation was later proved malignant. CONCLUSION: Disorders of sex development patients with Y chromosome materials have a significantly increased risk of GCTs. Gonadoblastoma and dysgerminoma/seminoma are the most prevalent GCTs and 46, XY PGD carries the highest tumour presence and malignancy risk. AIS could postpone bilateral gonadectomy until or after adolescence, while others with streak gonads should undergo surgery as soon as diagnosis. Specific serum tumour markers could be used in predicting GCTs and monitoring. Optimal care and close follow-up are required.
[Mh] Termos MeSH primário: Cromossomos Humanos Y/genética
Transtornos do Desenvolvimento Sexual/genética
Neoplasias de Tecido Gonadal/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Síndrome de Resistência a Andrógenos
Sequência de Bases
Criança
Gerenciamento Clínico
Feminino
Disgenesia Gonadal 46 XY
Seres Humanos
Masculino
Neoplasias Embrionárias de Células Germinativas/etiologia
Fenótipo
Estudos Retrospectivos
Risco
Esteroide 17-alfa-Hidroxilase
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1111/cen.13255


  7 / 1836 MEDLINE  
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Mendonça, Berenice B
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[PMID]:27163392
[Au] Autor:Mendonca BB; Gomes NL; Costa EM; Inacio M; Martin RM; Nishi MY; Carvalho FM; Tibor FD; Domenice S
[Ad] Endereço:Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil. Electronic address: beremen@usp.br.
[Ti] Título:46,XY disorder of sex development (DSD) due to 17ß-hydroxysteroid dehydrogenase type 3 deficiency.
[So] Source:J Steroid Biochem Mol Biol;165(Pt A):79-85, 2017 Jan.
[Is] ISSN:1879-1220
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:17ß-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. External genitalia range from female-like to atypical genitalia and most affected males are raised as females. Virilization in subjects with 17ß-HSD3 deficiency occurs at the time of puberty and several of them change to male social sex. In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype of 46,XY DSD due to 17ß-HSD3 deficiency is extremely variable and clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on a low testosterone/androstenedione ratio due to high serum levels of androstenedione and low levels of testosterone. The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17ß-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the previously reported cases of 17ß-HSD3 deficiency adding our own cases.
[Mh] Termos MeSH primário: 17-Hidroxiesteroide Desidrogenases/deficiência
Cromossomos Humanos X/genética
Cromossomos Humanos Y/genética
Transtornos do Desenvolvimento Sexual/genética
[Mh] Termos MeSH secundário: 17-Hidroxiesteroide Desidrogenases/genética
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética
Transtornos 46, XY do Desenvolvimento Sexual/genética
Adolescente
Adulto
Síndrome de Resistência a Andrógenos/genética
Criança
Pré-Escolar
Éxons
Feminino
Testes Genéticos
Genótipo
Homozigoto
Seres Humanos
Hipospadia/genética
Masculino
Mutação
Fenótipo
Estudos Retrospectivos
Erros Inatos do Metabolismo de Esteroides/genética
Virilismo/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 1.1.- (17-Hydroxysteroid Dehydrogenases); EC 1.1.- (17beta-hydroxysteroid dehydrogenase type 3); EC 1.1.1.51 (3 (or 17)-beta-hydroxysteroid dehydrogenase); EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170623
[Lr] Data última revisão:
170623
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160511
[St] Status:MEDLINE


  8 / 1836 MEDLINE  
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[PMID]:26806084
[Au] Autor:Li L; Liu WM; Liu MX; Zheng SQ; Zhang JX; Che FY; Liu SG
[Ad] Endereço:Department of Genetics Counseling, Genetics Institute of Linyi People's Hospital, Linyi 276003, Shandong, China.
[Ti] Título:A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family.
[So] Source:Asian J Androl;19(2):260-261, 2017 Mar-Apr.
[Is] ISSN:1745-7262
[Cp] País de publicação:China
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/genética
Mutação de Sentido Incorreto
Receptores Androgênicos/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático
China
Homozigoto
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Receptors, Androgen)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160126
[St] Status:MEDLINE
[do] DOI:10.4103/1008-682X.172647


  9 / 1836 MEDLINE  
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[PMID]:28270903
[Au] Autor:Souhail R; Amine S; Nadia A; Tarik K; Khalid EK; Abdellatif K; Ahmed A
[Ad] Endereço:Department of Urology B, Ibn Sina University Hospital, Rabat, Morocco.
[Ti] Título:Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report.
[So] Source:Pan Afr Med J;25:199, 2016.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:eng
[Ab] Resumo:Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs because of a resistance to the actions of the androgen hormones, which in turn switches the development towards the aspect of a woman. We report a case of complete androgen insensitivity syndrome in a 30 years old woman who presented primary amenorrhea. We aim to improve our knowledge of this illness from the data that provides us this study, and a review of the literature.
[Mh] Termos MeSH primário: Amenorreia/etiologia
Síndrome de Resistência a Andrógenos/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170322
[Lr] Data última revisão:
170322
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2016.25.199.10758


  10 / 1836 MEDLINE  
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[PMID]:28057092
[Au] Autor:Wu WQ; Liu Y; Geng Q; Luo FW; Chen WB; Yuan H; Xie JS
[Ad] Endereço:Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518028, China.
[Ti] Título:[The prenatal genetic diagnosis of a family with complete androgen insensitivity syndrome].
[So] Source:Zhonghua Yi Xue Za Zhi;96(47):3793-3796, 2016 Dec 20.
[Is] ISSN:0376-2491
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To identify the Androgen Receptor (AR) gene mutation of one family with complete androgen insensitivity syndrome (CAIS) and to establish the methods of prenatal genetic diagnosis for CAIS. The AR gene exons of the family were amplified by PCR and sequenced directly. Linkage analysis was performed by using the CAG repeats in the exon1 of AR gene to assure accuracy of the prenatal diagnosis. We found a frameshift mutation c. 2546del A (p. Asn849Ile fsX34) in the exon7 of AR gene in the proband.The mutation had not been reported before.The mother of the proband went through two times prenatal genetic diagnosis for her next pregnancies, both fetuses were male and did not get the mutation.The results of the linkage analysis were consistent with the sequencing results. A novel AR mutations in a CAIS family have been confirmed. The method of prenatal genetic diagnosis was established, and worked effectively in the CAIS family.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos
[Mh] Termos MeSH secundário: Sequência de Bases
Éxons
Feminino
Seres Humanos
Masculino
Mutação
Reação em Cadeia da Polimerase
Gravidez
Diagnóstico Pré-Natal
Receptores Androgênicos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Androgen)
[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:170107
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0376-2491.2016.47.005



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