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Pesquisa : C12.706.316.309.631 [Categoria DeCS]
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  1 / 13 MEDLINE  
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[PMID]:27959413
[Au] Autor:Xu S; Hu S; Yu X; Zhang M; Yang Y
[Ad] Endereço:Department of Endocrinology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
[Ti] Título:17α­hydroxylase/17,20­lyase deficiency in congenital adrenal hyperplasia: A case report.
[So] Source:Mol Med Rep;15(1):339-344, 2017 Jan.
[Is] ISSN:1791-3004
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α­hydroxylase/17,20­lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone levels that stimulate the production of mineralocorticoid precursors. This subsequently leads to hypertension, hypokalemia, primary amenorrhea and sexual infantilism. Over 90 distinct genetic lesions have been identified in patients with this disorder. The prevalence of common mutation of CYP17A1 gene differs among ethnic groups. Treatment of this disorder involves replacement of glucocorticoids and sex steroids. Estrogen alone is prescribed for patients who are biologically male with 17α­hydroxylase deficiencies that identify as female. However, genetically female patients may receive estrogen and progesterone supplementation. In the present study, a 17­year­old female with 17α­hydroxylase/17,20­lyase deficiency that presented with primary amenorrhea and sexual infantilism and no hypertension, was examined. The karyotype of the patient was 46, XX, and genetic analysis revealed the presence of a compound heterozygous mutation in exons 6 and 8, leading to the complete absence of 17α­hydroxylase/17,20­lyase activity. The patient was treated with prednisolone and ethinyl estradiol. In addition, a summary of the recent literature regarding CAH is presented.
[Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/complicações
Hiperplasia Suprarrenal Congênita/genética
Esteroide 17-alfa-Hidroxilase/genética
[Mh] Termos MeSH secundário: Adolescente
Hiperplasia Suprarrenal Congênita/tratamento farmacológico
Amenorreia/complicações
Amenorreia/tratamento farmacológico
Amenorreia/genética
Estrogênios/uso terapêutico
Etinilestradiol/uso terapêutico
Éxons
Feminino
Glucocorticoides/uso terapêutico
Seres Humanos
Cariótipo
Mutação
Prednisolona/uso terapêutico
Infantilismo Sexual/complicações
Infantilismo Sexual/tratamento farmacológico
Infantilismo Sexual/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Estrogens); 0 (Glucocorticoids); 423D2T571U (Ethinyl Estradiol); 9PHQ9Y1OLM (Prednisolone); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170403
[Lr] Data última revisão:
170403
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161214
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2016.6029


  2 / 13 MEDLINE  
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[PMID]:26411228
[Au] Autor:Check JH; Cohen R; Mccullen K; Mitchell-Williams J
[Ti] Título:Sexual infantilism in a normal karotypic female related to ovarian agenesis associated with Müllerian agenesis--Case report.
[So] Source:Clin Exp Obstet Gynecol;42(4):535-6, 2015.
[Is] ISSN:0390-6663
[Cp] País de publicação:Canada
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To describe an unusual case of Müllerian agenesis associated with gonadal agenesis and thus sexual infantilism. MATERIALS AND METHODS: Pelvic magnetic resonance imaging (MRI) and sonography were performed and MRI of the kidneys. Pelvic sonography and serum follicle stimulating hormone (FSH) were also obtained. RESULTS: The only pelvic organ that this 15-year-old girl had was the distal portion of the vaginal canal. The kidneys were normal. CONCLUSIONS: This case suggests that at least in some cases some possible viral damaging process may lead to damage to both the ovaries and the Müllerian system. If there was a problem with the anti-Müllerian hormone (AMH), the kidney may be affected. Furthermore, AMH has nothing to do with the ovaries and a chance association of these two entities though possible, seems less likely than a common factor causing both problems.
[Mh] Termos MeSH primário: Ductos Paramesonéfricos/anormalidades
Ovário/anormalidades
Infantilismo Sexual/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Diagnóstico Diferencial
Feminino
Seres Humanos
Cariotipagem
Imagem por Ressonância Magnética
Infantilismo Sexual/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1510
[Cu] Atualização por classe:150928
[Lr] Data última revisão:
150928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150929
[St] Status:MEDLINE


  3 / 13 MEDLINE  
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[PMID]:23405523
[Au] Autor:Santra G; Banerjee S
[Ad] Endereço:Dept. of Medicine, Medical College, 88 College Street, Kolkata 700 073.
[Ti] Título:Adult cystic fibrosis--a rare diagnosis from India.
[So] Source:J Assoc Physicians India;60:45-7, 2012 Aug.
[Is] ISSN:0004-5772
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:Cystic fibrosis (CF) is a multisystem disease characterized by chronic pulmonary infection, bronchiectasis, exocrine pancreatic insufficiency and elevated sweat chloride level. It is commonly considered as a pediatric disease. But it is now being diagnosed in increasing number of adults due to increased survival from availability of potent antibiotics, nutritional facility and diagnosis of mild cases which were unrecognized previously. CF is rarely reported from India and its adult presentation is rarer. Our case, a Hindu female from West Bengal, India was diagnosed to have CF at the age of 29 years. She had chronic cough and wheezing since childhood being treated as asthmatic patient. She had poor nutrional status, short stature and sexual infantilism. She had premature cataract. Because of chronic cough and expectoration we performed HRCT scan of thorax which revealed bilateral bronchiectasis. She had bilateral maxillary sinusitis and hypoplastic frontal sinus. Repeated sweat chloride tests revealed high values suggestive of CF. CF should be considered in differential diagnosis of adults with bronchiectasis and chronic sinusitis or child with bronchial asthma. High level of awareness is needed to diagnose CF in India, because of its rarity.
[Mh] Termos MeSH primário: Bronquiectasia/diagnóstico
Fibrose Cística/diagnóstico
Infantilismo Sexual/diagnóstico
Suor/metabolismo
[Mh] Termos MeSH secundário: Adulto
Bronquiectasia/complicações
Fibrose Cística/complicações
Fibrose Cística/terapia
Feminino
Seres Humanos
Índia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1303
[Cu] Atualização por classe:130214
[Lr] Data última revisão:
130214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130215
[St] Status:MEDLINE


  4 / 13 MEDLINE  
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[PMID]:22815032
[Au] Autor:Sathya A; Ganesan R; Kumar A
[Ad] Endereço:Department of Endocrinology, Vijaya Hospital, 175, NSK Salai, Saligramam, Vadapalani, Chennai 600026, Tamil Nadu, India. anjalisathyab@yahoo.co.in
[Ti] Título:Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl.
[So] Source:Singapore Med J;53(7):e148-9, 2012 Jul.
[Is] ISSN:0037-5675
[Cp] País de publicação:Singapore
[La] Idioma:eng
[Ab] Resumo:Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.
[Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/diagnóstico
Paralisia/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Hiperplasia Suprarrenal Congênita/genética
Alcalose/diagnóstico
Diagnóstico Diferencial
Feminino
Seres Humanos
Hipertensão/diagnóstico
Hipopotassemia/diagnóstico
Modelos Biológicos
Infantilismo Sexual/diagnóstico
Esteroide 21-Hidroxilase/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.14.14.16 (Steroid 21-Hydroxylase)
[Em] Mês de entrada:1301
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120721
[St] Status:MEDLINE


  5 / 13 MEDLINE  
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[PMID]:22723313
[Au] Autor:Basciani S; Watanabe M; Mariani S; Passeri M; Persichetti A; Fiore D; Scotto d'Abusco A; Caprio M; Lenzi A; Fabbri A; Gnessi L
[Ad] Endereço:Department of Experimental Medicine, Section of Medical Physiopathology and Endocrinology, Sapienza University of Rome, 00161 Rome, Italy.
[Ti] Título:Hypogonadism in a patient with two novel mutations of the luteinizing hormone ß-subunit gene expressed in a compound heterozygous form.
[So] Source:J Clin Endocrinol Metab;97(9):3031-8, 2012 Sep.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: LH gene mutations are rare; only four mutations have been described. The affected individuals are hypogonadal. PATIENT: We describe the clinical features of a 31-yr-old man who presented with delayed puberty and azoospermia and was found to have hypogonadism associated with an absence of circulating LH. MAIN OUTCOME MEASURES AND RESULTS: The patient had a 12-bp deletion in exon 2 in the LH ß-subunit gene and a mutation of the 5' splice site IVS2+1G→T in the same gene present in a compound heterozygous state. The first mutation predicts a deletion of four leucines of the hydrophobic core of the signal peptide. The second mutation disrupts the splicing of mRNA, generating a gross abnormality in the processing. The patient's heterozygous parents were clinically normal. The phenotype of a 16-yr-old sister of the proband, carrying the same mutations, was characterized by normal pubertal development and oligomenorrhea. CONCLUSION: This report unravels two novel mutations of the LH gene critical for synthesis and activity of the LH molecule. The insight gained from the study is that normal pubertal maturation in women can occur in a state of LH deficiency, whereas LH is essential for maturation of Leydig cells and thus steroidogenesis, puberty, and spermatogenesis in man. These mutations should be considered in girls and boys with selective deficiency of LH.
[Mh] Termos MeSH primário: Hipogonadismo/etiologia
Hipogonadismo/genética
Hormônio Luteinizante Subunidade beta/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Azoospermia/etiologia
Gonadotropina Coriônica/uso terapêutico
DNA/genética
Éxons
Feminino
Deleção de Genes
Expressão Gênica
Heterozigoto
Seres Humanos
Hipogonadismo/patologia
Leucócitos/metabolismo
Hormônio Luteinizante Subunidade beta/sangue
Hormônio Luteinizante Subunidade beta/deficiência
Masculino
Pênis/patologia
Reação em Cadeia da Polimerase
Puberdade Tardia/etiologia
RNA Mensageiro/biossíntese
RNA Mensageiro/genética
Túbulos Seminíferos/patologia
Infantilismo Sexual/etiologia
Infantilismo Sexual/genética
Testículo/patologia
Testosterona/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Chorionic Gonadotropin); 0 (Luteinizing Hormone, beta Subunit); 0 (RNA, Messenger); 3XMK78S47O (Testosterone); 9007-49-2 (DNA)
[Em] Mês de entrada:1211
[Cu] Atualização por classe:131121
[Lr] Data última revisão:
131121
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:120623
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2012-1986


  6 / 13 MEDLINE  
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[PMID]:21823532
[Au] Autor:Wang W; Fu JF; Gong FQ; Zhu WH; Shen Z
[Ad] Endereço:Children's Hospital, Zhejiang University School of Medicine, Zhugan Xiang 57, Hangzhou 310003, P.R. China.
[Ti] Título:Rare hypertension as a result of 17alpha-hydroxylase deficiency.
[So] Source:J Pediatr Endocrinol Metab;24(5-6):333-7, 2011.
[Is] ISSN:0334-018X
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To investigate CYP 7A1 gene mutations in Chinese patients with 17alpha-hydroxylase deficiency. METHODS: Clinical data were retrospectively analyzed. CYP17A1 mutations were detected in two cases with 17alpha-hydroxylase deficiency. Genomic DNA was isolated from blood samples and eight primers pairs were used to amplify eight exons and exon-intron boundaries of the CYP17A1 gene. The amplified PCR products were purified by agarose gel electrophoresis and then directly sequenced. Sequencing results were compared to the established human CYP17A1 sequence. RESULTS: Two compound mutations were identified: TAC --> AA at codons 436-438 on exon 6, causing the amino acid missense mutation Y329K/418X; and deletion of the 9-bp sequence GACTCTTTC at codons 487-489 on exon 8, causing deletion of three amino acids (Asp-Ser-Phe). CONCLUSION: D487_F489del and Y329K, 418X CYP17A1 mutations were identified in our two patients. A literature review revealed that the main CYP17A1 mutations in the Chinese population are missense and splicing defects, and exons 8 and 6 are most frequently involved.
[Mh] Termos MeSH primário: Hipertensão/enzimologia
Hipertensão/genética
Mutação
Esteroide 17-alfa-Hidroxilase/genética
[Mh] Termos MeSH secundário: Adolescente
Hiperplasia Suprarrenal Congênita/enzimologia
Hiperplasia Suprarrenal Congênita/genética
Sequência de Bases
Criança
Feminino
Estudos de Associação Genética
Seres Humanos
Masculino
Mutação de Sentido Incorreto
Deleção de Sequência
Infantilismo Sexual/enzimologia
Infantilismo Sexual/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 1.14.14.19 (CYP17A1 protein, human); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:1108
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110810
[St] Status:MEDLINE


  7 / 13 MEDLINE  
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[PMID]:20453063
[Au] Autor:Batsukh T; Pieper L; Koszucka AM; von Velsen N; Hoyer-Fender S; Elbracht M; Bergman JE; Hoefsloot LH; Pauli S
[Ad] Endereço:Institute of Human Genetics, University of Göttingen, 37073 Göttingen, Germany.
[Ti] Título:CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
[So] Source:Hum Mol Genet;19(14):2858-66, 2010 Jul 15.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary spastic paraplegia, it was shown that interacting partners are involved in the underlying cause of the disease. These data encouraged us to search for CHD7 binding partners by a yeast two-hybrid library screen and CHD8 was identified as an interacting partner. The result was confirmed by a direct yeast two-hybrid analysis, co-immunoprecipitation studies and by a bimolecular fluorescence complementation assay. To investigate the function of CHD7 missense mutations in the CHD7-CHD8 interacting area on the binding capacity of both proteins, we included three known missense mutations (p.His2096Arg, p.Val2102Ile and p.Gly2108Arg) and one newly identified missense mutation (p.Trp2091Arg) in the CHD7 gene and performed both direct yeast two-hybrid and co-immunoprecipitation studies. In the direct yeast two-hybrid system, the CHD7-CHD8 interaction was disrupted by the missense mutations p.Trp2091Arg, p.His2096Arg and p.Gly2108Arg, whereas in the co-immunoprecipitation studies disruption of the CHD7-CHD8 interaction by the mutations could not be observed. The results lead to the hypothesis that CHD7 and CHD8 proteins are interacting directly and indirectly via additional linker proteins. Disruption of the direct CHD7-CHD8 interaction might change the conformation of a putative large CHD7-CHD8 complex and could be a disease mechanism in CHARGE syndrome.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
DNA Helicases/genética
DNA Helicases/metabolismo
Proteínas de Ligação a DNA/genética
Proteínas de Ligação a DNA/metabolismo
Fatores de Transcrição/metabolismo
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/metabolismo
Atresia das Cóanas/complicações
Atresia das Cóanas/genética
Atresia das Cóanas/metabolismo
Coloboma/complicações
Coloboma/genética
Coloboma/metabolismo
Surdez/complicações
Surdez/congênito
Surdez/genética
Surdez/metabolismo
Deficiências do Desenvolvimento/complicações
Deficiências do Desenvolvimento/genética
Deficiências do Desenvolvimento/metabolismo
Orelha/anormalidades
Células HeLa
Cardiopatias Congênitas/complicações
Cardiopatias Congênitas/genética
Cardiopatias Congênitas/metabolismo
Seres Humanos
Mutação/fisiologia
Ligação Proteica/genética
Domínios e Motivos de Interação entre Proteínas/genética
Domínios e Motivos de Interação entre Proteínas/fisiologia
Infantilismo Sexual/complicações
Infantilismo Sexual/genética
Infantilismo Sexual/metabolismo
Síndrome
Transfecção
Técnicas do Sistema de Duplo-Híbrido
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (CHD8 protein, human); 0 (DNA-Binding Proteins); 0 (Transcription Factors); EC 3.6.4.- (DNA Helicases); EC 3.6.4.12 (CHD7 protein, human)
[Em] Mês de entrada:1009
[Cu] Atualização por classe:131121
[Lr] Data última revisão:
131121
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100511
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddq189


  8 / 13 MEDLINE  
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[PMID]:19504440
[Au] Autor:Liu BL; Qiao J; Chen X; Liang J; Zuo CL; Gu YY; Han B; Gong J; Ru Y; Lu YL; Wu WL; Chen MD; Song HD
[Ad] Endereço:Molecular Medical Center, Shanghai Institute of Endocrinology, the Affiliated Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025 PR China.
[Ti] Título:[Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;26(3):282-7, 2009 Jun.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17a-hydroxylase/17,20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. METHODS: Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. RESULTS: Seven patients (5 of them were 46,XX; 2 were 46,XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cortisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. CONCLUSION: The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD.There might be certain frequency of heterozygotes for D487_F489del in Chinese population.
[Mh] Termos MeSH primário: Esteroide 17-alfa-Hidroxilase/metabolismo
Esteroide 21-Hidroxilase/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Grupo com Ancestrais do Continente Asiático/genética
Éxons
Feminino
Frequência do Gene
Seres Humanos
Hipertensão/genética
Hipopotassemia/genética
Masculino
Meia-Idade
Dados de Sequência Molecular
Mutação
Linhagem
Reação em Cadeia da Polimerase
Análise de Sequência de DNA
Infantilismo Sexual/genética
Infantilismo Sexual/metabolismo
Esteroide 17-alfa-Hidroxilase/genética
Esteroide 21-Hidroxilase/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.14.14.16 (Steroid 21-Hydroxylase); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:0909
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:090609
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2009.03.010


  9 / 13 MEDLINE  
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[PMID]:17454159
[Au] Autor:Benetti-Pinto CL; Vale D; Garmes H; Bedone A
[Ad] Endereço:Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (UNICAMP), Rua Alexander Fleming 101, CEP 13083-881 Campinas, São Paulo, Brazil. crislag@sigmanet.com.br
[Ti] Título:17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis--a case report.
[So] Source:Gynecol Endocrinol;23(2):94-8, 2007 Feb.
[Is] ISSN:0951-3590
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The differential diagnosis of hypertension associated with hypokalemia in infancy and adolescence should necessarily include deficiency of the 17alpha-hydroxylase enzyme, a rare form of congenital adrenal hyperplasia (CAH). In addition to hypertension, the classic syndrome caused by this deficiency is characterized by suppressed production of sex hormones and consequently sexual infantilism. Although rare (1% of all forms of CAH), there appears to be a higher incidence of this syndrome in some population groups. This is a case report on two sisters followed up at the Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (UNICAMP), who were both found to have the 46,XY genotype with homozygosis for W406R, exon 7 of the CYP17 gene (OMIM 202110). The condition was diagnosed only at puberty when hypergonadotropic hypogonadism resulted in sexual infantilism; however, arterial hypertension had been present since infancy and late diagnosis and lack of timely adequate treatment resulted in complications.
[Mh] Termos MeSH primário: 17-alfa-Hidroxiprogesterona/sangue
Hiperplasia Suprarrenal Congênita/etiologia
Hipertensão
Infantilismo Sexual/etiologia
Esteroide 17-alfa-Hidroxilase/genética
[Mh] Termos MeSH secundário: Adolescente
Hiperplasia Suprarrenal Congênita/enzimologia
Amenorreia/etiologia
Deficiências Nutricionais/complicações
Deficiências Nutricionais/genética
Feminino
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
68-96-2 (17-alpha-Hydroxyprogesterone); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:0706
[Cu] Atualização por classe:161124
[Lr] Data última revisão:
161124
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:070425
[St] Status:MEDLINE


  10 / 13 MEDLINE  
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[PMID]:16772352
[Au] Autor:Yang J; Cui B; Sun S; Shi T; Zheng S; Bi Y; Liu J; Zhao Y; Chen J; Ning G; Li X
[Ad] Endereço:Department of Endocrinology and Metabolism, Ruijin Hospital, Shanghai Jiaotong University Medical School, Ruijin 2nd Road, Shanghai 200025, People's Republic of China.
[Ti] Título:Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
[So] Source:J Clin Endocrinol Metab;91(9):3619-25, 2006 Sep.
[Is] ISSN:0021-972X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: P450c17 deficiency (17OHD), caused by mutation in CYP17A1 gene, is characterized by severe hypertension-hypokalemia, sexual infantilism in females, and pseudohermaphroditism in males. We investigated eight Chinese 17OHD patients with five novel mutations of CYP17A1 gene and analyzed phenotype-genotype correlation in a patient with regular menses and seven others with classic presentations by in vitro expression and computer modeling. OBJECTIVE: The objective of the study was to explore the phenotype-genotype correlation in patients with subtle and classic manifestations. SUBJECTS AND METHODS: Eight patients with 17OHD from seven families were diagnosed according to clinical manifestations and basal hormone assays. The CYP17A1 gene was amplified and sequenced. Haplotyping analysis was performed to determine a common ancestor for those subjects with a frequent mutation 1517_1525del. In vitro enzymatic activities assay and computer modeling were used to analyze the phenotype-genotype correlation. RESULTS: Five novel CYP17A1 mutations, homozygous D487_F489del (1517_1525del) and F453S, combined compound Y329K and 1047del, P434L and V310_W313del, and R416C and D487_F489del were identified. Haplotyping showed that 1517_1525del might be inherited from a common ancestor. Compared with the mutations in patients with classical manifestations, F453S in the patient with regular menses, occasional hypertension, and hypokalemia showed a partially reduced 17alpha-hydroxylase (29% of those of wild type) and a minor protein conformational change. CONCLUSION: The clinical manifestations in patients with 17OHD correlate with CYP17A1 mutations and enzymatic activities by in vitro enzyme assay and computer modeling. F453S mutation results in partially reduced enzymatic activities and a subtle phenotype. The prevalent mutation 1517_1525del in Chinese 17OHD patients might be a founder effect.
[Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/genética
Transtornos do Desenvolvimento Sexual/genética
Mutação
Infantilismo Sexual/genética
Esteroide 17-alfa-Hidroxilase/genética
[Mh] Termos MeSH secundário: Adolescente
Hiperplasia Suprarrenal Congênita/enzimologia
Adulto
Sequência de Bases
China
Aberrações Cromossômicas
DNA/química
DNA/genética
Transtornos do Desenvolvimento Sexual/enzimologia
Feminino
Haplótipos
Seres Humanos
Masculino
Modelos Moleculares
Dados de Sequência Molecular
Reação em Cadeia da Polimerase
Análise de Sequência de DNA
Infantilismo Sexual/enzimologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
9007-49-2 (DNA); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:0610
[Cu] Atualização por classe:161124
[Lr] Data última revisão:
161124
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:060615
[St] Status:MEDLINE



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