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[PMID]:28697823
[Au] Autor:Cheng Y; Guo L; Deng M; Song YZ
[Ad] Endereço:Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China. Songyuanzong@vip.tom.com.
[Ti] Título:[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(7):734-740, 2017 Jul.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1 gene, which encodes the Δ4-3-oxo-steroid 5ß-reductase. Cholestatic jaundice is the main clinical manifestation, accompanied by malabsorption of fat and fat-soluble vitamins. This paper reported the clinical and genetic features of a CBAS2 patient definitely diagnosed by AKR1D1 genetic analysis. An 8-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 7 months. On physical examination, growth retardation and malnutrition were discovered besides mild jaundice of the skin and sclera. The liver was palpable 8 cm below the right subcostal margin with medium texture, and the spleen was not enlarged. On liver function test, elevated levels of bilirubin (predominantly conjugated bilirubin) and transaminases were detected, but serum total bile acids and γ-glutamyl transpeptidase levels were within the normal ranges. Liver histopathologic analysis showed disorganized bile ducts, obvious multinucleated giant cells, significant cholestasis in hepatocytes, together with portal and interstitial fibrosis and lymphocytic infiltration. Via next generation sequencing analysis and Sanger sequencing confirmation, the infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively. CBAS2 was thus definitely diagnosed, and chenodeoxycholic acid was given orally. As a result, the abnormal liver function and hepatomegaly were improved gradually. On a follow-up 3 months later, a soft liver was palpable 2.5 cm below the right subcostal margin, and all liver function indices recovered to normal ranges.
[Mh] Termos MeSH primário: Colestase/genética
Mutação
Oxirredutases/deficiência
Erros Inatos do Metabolismo de Esteroides/genética
[Mh] Termos MeSH secundário: Ácidos e Sais Biliares/sangue
Colestase/sangue
Colestase/fisiopatologia
Colestase/terapia
Seres Humanos
Lactente
Fígado/fisiopatologia
Masculino
Oxirredutases/sangue
Oxirredutases/genética
Erros Inatos do Metabolismo de Esteroides/sangue
Erros Inatos do Metabolismo de Esteroides/fisiopatologia
Erros Inatos do Metabolismo de Esteroides/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bile Acids and Salts); EC 1.- (Oxidoreductases); EC 1.3.99.6 (3-oxo-5 beta-steroid delta 4-dehydrogenase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE


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[PMID]:28502376
[Au] Autor:Ferrières J
[Ad] Endereço:CHU Rangueil, TSA 50032, fédération de cardiologie, 31059 Toulouse cedex 9, France. Electronic address: jean.ferrieres@univ-tlse3.fr.
[Ti] Título:[2016 European Society of Cardiology guidelines for the management of dyslipidemias].
[Ti] Título:Les recommandations de 2016 de la Société européenne de cardiologie sur la prise en charge des dyslipidémies..
[So] Source:Presse Med;46(7-8 Pt 1):688-696, 2017 Jul - Aug.
[Is] ISSN:2213-0276
[Cp] País de publicação:France
[La] Idioma:fre
[Ab] Resumo:Cardiovascular risk evaluation is a fundamental approach in cardiovascular prevention. Cardiovascular risk categories are associated with lipid-lowering drug intensity. LDL cholesterol is the main target of treatment. Statins are the first line lipid-lowering drugs. Lipid-lowering combination therapy is to be used in order to obtain the LDL cholesterol targets. Screening of familial hypercholesterolemia might be included in all prevention population strategy.
[Mh] Termos MeSH primário: Doenças Cardiovasculares/prevenção & controle
Dislipidemias/terapia
[Mh] Termos MeSH secundário: Anticolesterolemiantes/uso terapêutico
LDL-Colesterol/sangue
Ácidos Cólicos/sangue
Dieta Mediterrânea
Seres Humanos
Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico
Testes de Função Hepática
Mialgia/induzido quimicamente
Guias de Prática Clínica como Assunto
Medição de Risco
Erros Inatos do Metabolismo de Esteroides/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticholesteremic Agents); 0 (Cholesterol, LDL); 0 (Cholic Acids); 0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170516
[St] Status: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


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[PMID]:27693263
[Au] Autor:Khorashad BS; Aghili Z; Kreukels BP; Hiradfar M; Roshan GM; Afkhamizadeh M; Abbaszadegan MR; Ghaemi N; Khazai B; Cohen-Kettenis PT
[Ad] Endereço:Evolution and Human Behavior Group, Psychiatry and Behavioral Sciences Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
[Ti] Título:Psychosexual Outcome Among Iranian Individuals With 5α-Reductase Deficiency Type 2 and Its Relationship With Parental Sexism.
[So] Source:J Sex Med;13(11):1629-1641, 2016 Nov.
[Is] ISSN:1743-6109
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Few studies exist on the psychosexual outcome of homogeneous groups of individuals with 5α-reductase deficiency type 2 (5α-RD-2) and the relation between gender changes and parental hostile and benevolent sexism, which are two components of ambivalent sexism that assume a stereotypical approach toward women in an overtly negative way or a chivalrous, seemingly positive way. AIM: To report on the psychosexual outcome of individuals with 5α-RD-2 and to investigate its relation to the level of parental sexism in a relatively large sample of Iranians with 5α-RD-2. METHODS: Twenty participants (mean age = 19.5 years, SD = 6.345) with a molecularly confirmed diagnosis of 5α-RD-2 who were assigned the female gender at birth and raised as female were included in the study. Participants and their parents were interviewed and their medical records were assessed. Parents also completed the Ambivalent Sexism Inventory (ASI), which includes hostile and benevolent sexism subscales. MAIN OUTCOME MEASURES: Psychosexual outcome and parental hostile and benevolent sexism measurements. RESULTS: Twelve of 20 participants (60%) were diagnosed with gender identity disorder not otherwise specified (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision). Ten of these transitioned to the male gender. The other 10 participants (50%), including the two diagnosed with gender identity disorder not otherwise specified, continued living in a female gender role. When comparing the ASI subscale scores between families of participants who changed their gender and those who did not, no significant difference was found for ASI total and hostile sexism scores, but there was a difference for benevolent sexism (P = .049): those whose daughters had changed their gender had higher benevolent sexism scores. CONCLUSION: The high prevalence of gender change and gender dysphoria reported in the literature was confirmed in this relatively large and homogeneous sample of Iranians with 5-α-RD-2 raised as female. Prenatal exposure to testosterone is hypothesized to play a role in the development of gender identity and sexual orientation, but parental attitudes also might be important. Although gender change in individuals with 5-α-RD-2 is often attributed to high levels of hostile sexism in some cultures, our findings show this to be associated with benevolent sexism.
[Mh] Termos MeSH primário: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência
Transtornos 46, XY do Desenvolvimento Sexual/psicologia
Disforia de Gênero/psicologia
Hipospadia/psicologia
Pais/psicologia
Sexismo/psicologia
Erros Inatos do Metabolismo de Esteroides/psicologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Identidade de Gênero
Hostilidade
Seres Humanos
Irã (Geográfico)
Masculino
Estudos Retrospectivos
Caracteres Sexuais
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170612
[Lr] Data última revisão:
170612
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161004
[St] Status:MEDLINE


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[PMID]:26983395
[Au] Autor:Zhang J; Yu H
[Ad] Endereço:Department of Infectious Disease, Children's Hospital of Fudan University, Shanghai 201102, China.
[Ti] Título:[Progressive familial intrahepatic cholestasis related to mutation of the TJP2 gene: recent advances].
[So] Source:Zhonghua Gan Zang Bing Za Zhi;24(1):78-80, 2016 Jan.
[Is] ISSN:1007-3418
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:Progressive familial intrahepatic cholestasis is a common cause for jaundice and hepatic dysfunction in infancy. Recent studies have provided novel insights into the etiology and pathogenesis of this childhood disease. Japanese scholars have proposed that mutation in the gene encoding the tight junction protein 2 (TJP2) may result in progressive familial intrahepatic cholestasis type 4. Gaining a detailed understanding of the pathogenesis of this disease form, and of its molecular underpinnings, will promote the development of new and more effective diagnostic tools for infantile progressive familial intrahepatic cholestasis.
[Mh] Termos MeSH primário: Colestase Intra-Hepática/genética
Colestase/genética
Mutação
Erros Inatos do Metabolismo de Esteroides/genética
Proteína da Zônula de Oclusão-2/genética
[Mh] Termos MeSH secundário: Criança
Seres Humanos
Lactente
Icterícia/genética
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (TJP2 protein, human); 0 (Zonula Occludens-2 Protein)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:160317
[Lr] Data última revisão:
160317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160318
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1007-3418.2016.01.015


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[PMID]:26628447
[Au] Autor:Kremer AE; Gonzales E; Schaap FG; Oude Elferink RP; Jacquemin E; Beuers U
[Ad] Endereço:*Department of Medicine I, Friedrich-Alexander-University of Erlangen, Erlangen, Germany †Tytgat Institute for Liver and Intestinal Research and Department of Hepatology & Gastroenterology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands ‡Pediatric Hepatology Unit and National Reference Centre for Biliary Atresia, DHU Hepatinov, CHU Bicêtre, Assistance Publique-Hôpitaux de Paris, University Paris-Sud, Paris, and Inserm UMR-S1174, Orsay, France §Department of Surgery, University of Maastricht, Maastricht, The Netherlands.
[Ti] Título:Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.
[So] Source:J Pediatr Gastroenterol Nutr;62(4):530-5, 2016 Apr.
[Is] ISSN:1536-4801
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Pruritus is a common symptom of cholestatic liver disorders. The present study aimed at evaluating autotaxin (ATX), a lysophospholipase recently identified as potential cause for cholestatic pruritus, in pediatric cholestatic diseases presenting with or without itching. METHODS: A cohort of 45 children consisting of 14 patients experiencing itching (Alagille syndrome [n = 10], complete extrahepatic biliary atresia [n = 2], neonatal sclerosing cholangitis (n = 1), progressive familial intrahepatic cholestasis type 2 [n = 1]), 9 patients with bile acid synthesis defects (3ß-hydroxy-C27-steroid-oxidoreductase [n = 7] and Δ-3-oxosteroid-5ß-reductase deficiency [n = 2]), and 22 healthy children were studied. Serum ATX activity and total serum bile salt were determined enzymatically, ATX protein content was semiquantified by Western blotting. Using real-time polymerase chain reaction, ATX mRNA expression was studied in HepG2 cells treated with farnesoid-X-receptor agonists or vehicle. RESULTS: Serum ATX activity was increased in pruritic children with Alagille and other cholestatic syndromes (mean ±â€Šstandard deviation: 16.1 ±â€Š4.3 nmol ·â€ŠmL ·â€Šmin) compared with children with nonpruritic cholestatic diseases with bile acid synthesis defects (10.4 ±â€Š4.7 nmol ·â€ŠmL ·â€Šmin; P < 0.01) and healthy controls (7.6 ±â€Š2.3 nmol ·â€ŠmL ·â€Šmin; P < 0.001). ATX protein levels closely correlated with serum ATX activity. Serum ATX activity and total serum bile salt showed a linear correlation with itch intensity (r = 0.66, P < 0.001 and r = 0.80, P < 0.001, respectively). No correlation was observed between ATX activity and bilirubin. ATX mRNA expression in HepG2 cells was not induced by farnesoid-X-receptor ligands. CONCLUSIONS: Serum ATX activity correlated with itch intensity in children with cholestatic diseases. Bile salts did not increase ATX expression in vitro. ATX inhibitors may be useful antipruritic agents in pediatric cholestatic disorders.
[Mh] Termos MeSH primário: Síndrome de Alagille/fisiopatologia
Atresia Biliar/fisiopatologia
Colangite Esclerosante/fisiopatologia
Colestase Intra-Hepática/fisiopatologia
Diester Fosfórico Hidrolases/sangue
Prurido/etiologia
[Mh] Termos MeSH secundário: Síndrome de Alagille/sangue
Síndrome de Alagille/terapia
Atresia Biliar/sangue
Atresia Biliar/terapia
Biomarcadores/sangue
Criança
Pré-Escolar
Colangite Esclerosante/sangue
Colangite Esclerosante/terapia
Colestase/sangue
Colestase/fisiopatologia
Colestase/terapia
Colestase Intra-Hepática/sangue
Colestase Intra-Hepática/terapia
Estudos de Coortes
Terapia Combinada
Feminino
França
Hospitais Universitários
Seres Humanos
Masculino
Oxirredutases/sangue
Oxirredutases/deficiência
Projetos Piloto
Estudos Prospectivos
Prurido/fisiopatologia
Prurido/prevenção & controle
Índice de Gravidade de Doença
Erros Inatos do Metabolismo de Esteroides/sangue
Erros Inatos do Metabolismo de Esteroides/fisiopatologia
Erros Inatos do Metabolismo de Esteroides/terapia
Regulação para Cima
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers); EC 1.- (Oxidoreductases); EC 3.1.4.- (Phosphoric Diester Hydrolases); EC 3.1.4.39 (alkylglycerophosphoethanolamine phosphodiesterase)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170104
[Lr] Data última revisão:
170104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151203
[St] Status:MEDLINE
[do] DOI:10.1097/MPG.0000000000001044


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[PMID]:26446026
[Au] Autor:Shabir I; Khurana ML; Marumudi E; Joseph AA; Mehta M; John J; Ammini AC
[Ad] Endereço:Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
[Ti] Título:Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.
[So] Source:Indian J Pediatr;83(5):481-2, 2016 May.
[Is] ISSN:0973-7693
[Cp] País de publicação:India
[La] Idioma:eng
[Mh] Termos MeSH primário: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência
Transtornos 46, XY do Desenvolvimento Sexual
Colestenona 5 alfa-Redutase/genética
Continuidade da Assistência ao Paciente
Identidade de Gênero
Hipospadia
Oligospermia
Erros Inatos do Metabolismo de Esteroides
[Mh] Termos MeSH secundário: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética
Transtornos 46, XY do Desenvolvimento Sexual/genética
Transtornos 46, XY do Desenvolvimento Sexual/fisiopatologia
Transtornos 46, XY do Desenvolvimento Sexual/psicologia
Transtornos 46, XY do Desenvolvimento Sexual/terapia
Adulto
Criança
Homozigoto
Seres Humanos
Hipospadia/genética
Hipospadia/fisiopatologia
Hipospadia/psicologia
Hipospadia/terapia
Masculino
Mutação
Oligospermia/diagnóstico
Oligospermia/etiologia
Desenvolvimento Sexual/genética
Erros Inatos do Metabolismo de Esteroides/genética
Erros Inatos do Metabolismo de Esteroides/fisiopatologia
Erros Inatos do Metabolismo de Esteroides/psicologia
Erros Inatos do Metabolismo de Esteroides/terapia
[Pt] Tipo de publicação:CASE REPORTS; LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 1.3.1.22 (Cholestenone 5 alpha-Reductase); EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151009
[St] Status:MEDLINE
[do] DOI:10.1007/s12098-015-1915-z


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[PMID]:26831562
[Au] Autor:Alikasifoglu A; Vuralli D; Hiort O; Gönç N; Özön A; Kandemir N
[Ti] Título:Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.
[So] Source:J Clin Res Pediatr Endocrinol;7(3):249-52, 2015 Sep.
[Is] ISSN:1308-5735
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:17-ß-hydroxysteroid dehydrogenase type 3 (17ß-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17ß-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/Δ4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17ß-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17ß-HSD3 which may explain the phenotype of our patient.
[Mh] Termos MeSH primário: 17-Hidroxiesteroide Desidrogenases/deficiência
Transtornos 46, XY do Desenvolvimento Sexual/genética
Transtornos do Desenvolvimento Sexual/genética
Ginecomastia/genética
Mutação
Erros Inatos do Metabolismo de Esteroides/genética
[Mh] Termos MeSH secundário: 17-Hidroxiesteroide Desidrogenases/genética
Transtornos 46, XY do Desenvolvimento Sexual/diagnóstico
Feminino
Genitália Feminina
Ginecomastia/diagnóstico
Homozigoto
Seres Humanos
Lactente
Cariótipo
Masculino
Erros Inatos do Metabolismo de Esteroides/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.1.- (17-Hydroxysteroid Dehydrogenases); EC 1.1.- (17beta-hydroxysteroid dehydrogenase type 3)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160203
[St] Status:MEDLINE
[do] DOI:10.4274/jcrpe.2069


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[PMID]:26556546
[Au] Autor:Cephus CE; Qureshi AM; Sexson-Tejtel SK; Goss JA; Moodie DS
[Ad] Endereço:Baylor College of Medicine, Houston, Tex, USA.
[Ti] Título:Liver Transplantation for HoFH in Children: Single Center Experience.
[So] Source:Congenit Heart Dis;10(6):520-8, 2015 Nov-Dec.
[Is] ISSN:1747-0803
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Ácidos Cólicos/sangue
Transplante de Fígado/métodos
Erros Inatos do Metabolismo de Esteroides
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Ácidos Cólicos/genética
Ácidos Cólicos/metabolismo
DNA/genética
Seres Humanos
Lactente
Mutação
Receptores de LDL/genética
Receptores de LDL/metabolismo
Erros Inatos do Metabolismo de Esteroides/genética
Erros Inatos do Metabolismo de Esteroides/metabolismo
Erros Inatos do Metabolismo de Esteroides/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Cholic Acids); 0 (LDLR protein, human); 0 (Receptors, LDL); 9007-49-2 (DNA)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151112
[St] Status:MEDLINE
[do] DOI:10.1111/chd.12301


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[PMID]:26399598
[Au] Autor:Matsuzaka Y; Hayashi H; Kusuhara H
[Ad] Endereço:Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, University of Tokyo, Tokyo, Japan.
[Ti] Título:Impaired Hepatic Uptake by Organic Anion-Transporting Polypeptides Is Associated with Hyperbilirubinemia and Hypercholanemia in Atp11c Mutant Mice.
[So] Source:Mol Pharmacol;88(6):1085-92, 2015 Dec.
[Is] ISSN:1521-0111
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Biliary excretion of organic anions, such as bile acids (BAs), is the main osmotic driving force for bile formation, and its impairment induces intrahepatic cholestasis. We investigated the involvement of Atp11c in the hepatic transport of organic anions using Atp11c mutant mice, which exhibit hypercholanemia and hyperbilirubinemia. Pharmacokinetic analysis following a constant intravenous infusion in Atp11c mutant mice showed decreased hepatic sinusoidal uptake and intact biliary secretion of [(3)H]17ß estradiol 17ß-d-glucuronide. Consistent with this result, compared with cells and membranes from control mice, isolated hepatocytes, and liver plasma membranes from Atp11c mutant mice had a much lower uptake of [(3)H]17ß estradiol 17ß-d-glucuronide and expression of organic anion-transporting polypeptides, which are transporters responsible for hepatic uptake of unconjugated BAs and organic anions, including bilirubin glucuronides. Uptake of [(3)H]TC into hepatocytes and expression of Na(+)-taurocholate cotransporting polypeptide in liver plasma membranes, which mediates hepatic uptake of conjugated BAs, was also lower in the Atp11c mutant mice. Bile flow rate, biliary BA concentration, and expression of hepatobiliary transporters did not differ between Atp11c mutant mice and control mice. These results suggest that Atp11c mediates the transport of BAs and organic anions across the sinusoidal membrane, but not the canalicular membrane, by regulating the abundance of transporters. Atp11c is a candidate gene for genetically undiagnosed cases of hypercholanemia and hyperbilirubinemia, but not of intrahepatic cholestasis. This gene may influence the pharmacological and adverse effect of drugs because organic anion-transporting polypeptides regulate their systemic exposure.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/genética
Ácidos Cólicos/sangue
Hiperbilirrubinemia/genética
Hiperbilirrubinemia/metabolismo
Fígado/metabolismo
Proteínas de Membrana Transportadoras/genética
Transportadores de Ânions Orgânicos/metabolismo
Erros Inatos do Metabolismo de Esteroides/genética
Erros Inatos do Metabolismo de Esteroides/metabolismo
[Mh] Termos MeSH secundário: Animais
Ácidos e Sais Biliares/metabolismo
Ácidos Cólicos/genética
Ácidos Cólicos/metabolismo
Hepatócitos/metabolismo
Fígado/citologia
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Mutação/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Bile Acids and Salts); 0 (Cholic Acids); 0 (Membrane Transport Proteins); 0 (Organic Anion Transporters); EC 3.6.1.- (ATP11C protein, human); EC 3.6.1.- (Adenosine Triphosphatases)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:151113
[Lr] Data última revisão:
151113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150925
[St] Status:MEDLINE
[do] DOI:10.1124/mol.115.100578



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