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[PMID]: 29378242 [Au] Autor: Wang X; Xue M; Zhao M; He F; Li C; Li X [Ad] Endereço: Center for Translational Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China; Key Laboratory for Tumor Precision Medicine of Shaanxi Province, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China. [Ti] Título: Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. [So] Source: Gene;651:143-151, 2018 Apr 20. [Is] ISSN: 1879-0038 [Cp] País de publicação: Netherlands [La] Idioma: eng [Ab] Resumo: Sex-determining region of the Y chromosome (SRY) gene plays a crucial role in male sexual differentiation and development. Several mutations in the SRY gene have been reported in the high mobility group (HMG) box domain and can cause gonadal dysgenesis symptoms. In this study, we report that a novel missense mutation in the SRY gene, a G to A transition within the HMG box, causes the Ala66Thr amino acid substitution in a female patient presenting 46,XY karyotype with pure gonadal dysgenesis. The G to A base transition was not found in the SRY sequence after the screening of 100 normal males. Furthermore, Ala66Thr mutation drastically reduced the binding capacity of SRY to DNA sequences, whereas wild-type SRY protein showed the normal binding capacity to DNA sequences in vitro. We also found that the mutant SRY protein was partly localized in cytoplasm, whereas wild-type SRY protein was strictly localized in cell nucleus. In addition, we analyzed the three-dimensional structure of SRY protein by homology modeling methods. In conclusion, we identified a novel SRY mutation in a 46,XY female patient with pure gonadal dysgenesis, demonstrating the importance of the Ala66Thr mutation in DNA binding activity and nuclear transport. [Mh] Termos MeSH primário: Disgenesia Gonadal 46 XY/genética Mutação de Sentido Incorreto Proteína da Região Y Determinante do Sexo/genética [Mh] Termos MeSH secundário: Transporte Ativo do Núcleo Celular Adolescente Adulto Alanina DNA/metabolismo Feminino Células HEK293 Seres Humanos Cariotipagem Masculino Ligação Proteica Conformação Proteica Análise de Sequência de DNA Proteína da Região Y Determinante do Sexo/química Proteína da Região Y Determinante do Sexo/metabolismo Treonina Adulto Jovem [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Sex-Determining Region Y Protein); 2ZD004190S (Threonine); 9007-49-2 (DNA); OF5P57N2ZX (Alanine) [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: 180130 [St] Status: MEDLINE

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[PMID]: 28668903 [Au] Autor: Hashimoto K; Horibe YU; Ezaki J; Kanno T; Takahashi N; Akizawa Y; Matsui H; Yamamoto T; Shibata N [Ad] Endereço: Department of Obstetrics and Gynecology, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan hashimoto.kazunori@twmu.ac.jp. [Ti] Título: Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. [So] Source: Anticancer Res;37(7):3975-3979, 2017 07. [Is] ISSN: 1791-7530 [Cp] País de publicação: Greece [La] Idioma: eng [Ab] Resumo: BACKGROUND: Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma. CASE REPORT: At the age of 3 years, the patient developed nephrotic syndrome. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis. At the age of 17 years, the patient presented primary amenorrhea and was referred to our department. Physical examination was consistent with Tanner 1 development and external genitalia were female phenotype. Speculum examination showed uterine cervix and uterine body and bilateral ovaries were not palpable on pelvic examination. Multi-sliced computed tomography of abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at pelvic wall and hypoplastic uterus. Serum testing revealed primary hypogonadism pattern, elevated follicle-stimulating hormone and luteinizing hormone with low concentrations of estradiol and testosterone. The patient underwent genetic counseling with her parents. Chromosomal status was 46XY karyotype and DNA sequencing confirmed FS due to a heterozygous WT1 mutation (IVS9+5G>A). Elective laparoscopic bilateral salpingo-oophorectomy was performed to avoid increased risk for gonadoblastoma. Pathological examination revealed gonadoblastoma in the right gonad. CONCLUSION: Although a rare disease, the diagnosis of FS should be considered in the case of primary amenorrhea with nephropathy. Prophylatic gonadectomy is recommended due to the high risk of gonadoblastoma in the dysgenetic gonad. [Mh] Termos MeSH primário: Síndrome de Frasier/cirurgia Gonadoblastoma/diagnóstico por imagem Neoplasias Ovarianas/diagnóstico por imagem Proteínas WT1/genética [Mh] Termos MeSH secundário: Adolescente Feminino Síndrome de Frasier/complicações Síndrome de Frasier/genética Disgenesia Gonadal 46 XY Seres Humanos Mutação Ovariectomia Salpingectomia Tomografia Computadorizada por Raios X [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (WT1 Proteins); 0 (WT1 protein, human) [Em] Mês de entrada: 1708 [Cu] Atualização por classe: 170906 [Lr] Data última revisão: 170906 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170703 [St] Status: MEDLINE

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[PMID]: 28225307 [Au] Autor: Wu C; Fan S; Qian Y; Zhou Y; Jin J; Dai Z; Jiang L [Ti] Título: 17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS. [So] Source: Endocr Pract;23(5):576-582, 2017 May. [Is] ISSN: 1530-891X [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: OBJECTIVE: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients. METHODS: Patients with complete (7/8) or partial (1/8) 17OHD were derived from 6 families. The diagnosis was established according to their clinical, biochemical, hormonal, and radiological characteristics. Long-term follow-up of some patients was also designed. RESULTS: Patients with 17OHD suffered from varying degrees of hypokalemia and hypertension. Symptoms in female patients with partial 17OHD manifested as secondary amenorrhea, recurrent ovarian cysts, elevated estradiol level, and lower follicle-stimulating hormone and luteinizing hormone levels; primary amenorrhea was typical in patients with complete 17OHD. Adrenal masses and decreased bone mineral density (BMD) were discovered in 2 patients, respectively. During long-term follow-up, 4 patients developed low BMD, while 3 individuals underwent respiratory infections and recurrent urinary tract infections. CYP17A1 gene analysis revealed 7 different kinds of mutation, including 1 novel mutation, L266V. CONCLUSION: The clinical characteristics of partial 17OHD were different from those of complete 17OHD. Low BMD and infections were common in patients with 17OHD on long-term steroid treatment. Seven mutations were identified in the CYP17A1 gene, and 1 was novel. ABBREVIATIONS: ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency. [Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/diagnóstico Hiperplasia Suprarrenal Congênita/genética Esteroide 17-alfa-Hidroxilase/genética [Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/genética Transtornos 46, XX do Desenvolvimento Sexual/patologia Adolescente Hiperplasia Suprarrenal Congênita/patologia Hormônio Adrenocorticotrópico/sangue Adulto Amenorreia/genética Amenorreia/patologia China Análise Mutacional de DNA Feminino Hormônio Foliculoestimulante/sangue Disgenesia Gonadal 46 XY/genética Disgenesia Gonadal 46 XY/patologia Seres Humanos Adulto Jovem [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 9002-60-2 (Adrenocorticotropic Hormone); 9002-68-0 (Follicle Stimulating Hormone); EC 1.14.14.19 (CYP17A1 protein, human); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170713 [Lr] Data última revisão: 170713 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170223 [St] Status: MEDLINE [do] DOI: 10.4158/EP161610.OR

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[PMID]: 28213853 [Au] Autor: Kehoe JE; Christman MS [Ad] Endereço: Department of Urology, Naval Medical Center San Diego, 34800 Bob Wilson Drive, San Diego, CA, 92134, USA. [Ti] Título: To 'Pex or Not to 'Pex: What to Do for the Contralateral Testis When a Nubbin Is Discovered. [So] Source: Curr Urol Rep;18(2):9, 2017 Feb. [Is] ISSN: 1534-6285 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: PURPOSE OF REVIEW: Testicular remnants or nubbins are commonly found in the evaluation and treatment of cryptorchidism. While much debate focuses on the management of the nubbin itself, there is also great uncertainty and variation in the management of the contralateral descended testis. Herein, we review the relevant literature informing the decision to perform a contralateral orchiopexy. RECENT FINDINGS: Although there is very little recent literature directly addressing the question, some studies have better characterized differences in practice, the risk of intravaginal torsion in the contralateral testis and potential consequences in the selection of technique. The etiology of a vanishing testis remains obscure, but appears more likely to be the result of a prenatal extravaginal torsion. While indeterminate, the risk of contralateral torsion of a descended testis appears to concentrate around the neonatal period with no substantially increased risk in later years. Contralateral orchiopexy, although a low-risk procedure, likely benefits very few and may carry an as yet poorly described risk to the contralateral testicle depending on the technique of fixation. [Mh] Termos MeSH primário: Doenças Testiculares/terapia Testículo [Mh] Termos MeSH secundário: Disgenesia Gonadal 46 XY/terapia Seres Humanos Masculino Orquidopexia Fatores de Risco Doenças Testiculares/patologia Doenças Testiculares/fisiopatologia Testículo/anormalidades Testículo/patologia Testículo/fisiopatologia [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Em] Mês de entrada: 1705 [Cu] Atualização por classe: 171107 [Lr] Data última revisão: 171107 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170219 [St] Status: MEDLINE [do] DOI: 10.1007/s11934-017-0657-z

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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

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[PMID]: 27711951 [Au] Autor: Chauhan V; Jyotsna VP; Jain V; Khadgawat R; Dada R [Ad] Endereço: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India. [Ti] Título: Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. [So] Source: Horm Metab Res;49(1):36-42, 2017 Jan. [Is] ISSN: 1439-4286 [Cp] País de publicação: Germany [La] Idioma: eng [Ab] Resumo: 46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. The molecular etiology is not known in about 2 thirds of instances. The aim of this study was to identify the genetic cause in patients with 46,XY gonadal dysgenesis. Based on clinical, cytogenetic, and biochemical screening, 10 patients with 46,XY GD were recruited. Direct sequencing of , , , , , genes was carried out for molecular analysis. Among 10 patients, 5 were diagnosed with complete gonadal dysgenesis (CGD), 3 with partial gonadal dysgenesis (PGD), and 3 with testicular agenesis. Molecular analysis revealed 12 heterozygous genetic changes, 4 of which were novel. One (c.416T>A) was observed in evolutionary conserved region of gene in a patient with CGD and was found to be probably damaging on in silico analysis. Other 3 were identified in gene (c.990+22 C>A, c.1387+1403T>A and p.131P), but their association with gonadal dysgenesis is not evident from our study. These genetic changes were absent in parents and 50 healthy control samples, which were also studied. With targeted sequencing approach, a molecular diagnosis was made in only one patient with 46,XY GD. The application of new genomic technologies is required for the precise evaluation of these rare genetic defects. [Mh] Termos MeSH primário: Disgenesia Gonadal 46 XY/genética Heterozigoto Mutação [Mh] Termos MeSH secundário: Adolescente Adulto Criança Pré-Escolar Receptor Nuclear Órfão DAX-1/genética Análise Mutacional de DNA/métodos Feminino Genes sry Proteínas Hedgehog/genética Seres Humanos Lactente Masculino Fatores de Transcrição SOX9/genética Fator Esteroidogênico 1/genética Fatores de Transcrição/genética Adulto Jovem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (DAX-1 Orphan Nuclear Receptor); 0 (DHH protein, human); 0 (DMRT1 protein); 0 (Hedgehog Proteins); 0 (NR0B1 protein, human); 0 (NR5A1 protein, human); 0 (SOX9 Transcription Factor); 0 (SOX9 protein, human); 0 (Steroidogenic Factor 1); 0 (Transcription Factors) [Em] Mês de entrada: 1703 [Cu] Atualização por classe: 170327 [Lr] Data última revisão: 170327 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161007 [St] Status: MEDLINE [do] DOI: 10.1055/s-0042-114778

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[PMID]: 28621097 [Au] Autor: Keskin M; Savas-Erdeve S; Kurnaz E; Çetinkaya S; Karaman A; Apaydin S; Aycan Z [Ti] Título: Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. [So] Source: Turk J Pediatr;58(5):538-540, 2016. [Is] ISSN: 0041-4301 [Cp] País de publicação: Turkey [La] Idioma: eng [Ab] Resumo: 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions. She had Tanner stage 1 thelarche, and Tanner stage 2 pubic hair development with no axillary hair development. External genital structure appearance was consistent with female phenotype and the patient had no palpable gonad. The patient diagnosed as 46, XY complete gonadal dysgenesis after evaluation of laboratory analyses, radiological methods and karyotype. The Sexual Orientation and Gender Identity Committee concluded that gonadectomy should be performed. Histopathologic analysis demonstrated gonadoblastoma. Gonad structures should be sought laparoscopically and once diagnosed, streak gonads should be removed prophylactically in patients with 46, XY complete gonadal dysgenesis. [Mh] Termos MeSH primário: Disgenesia Gonadal 46 XY/complicações Disgenesia Gonadal/complicações Gonadoblastoma/complicações [Mh] Termos MeSH secundário: Adolescente Feminino Seres Humanos Cariótipo Laparoscopia Imagem por Ressonância Magnética Neoplasias Ovarianas/cirurgia [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170915 [Lr] Data última revisão: 170915 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170617 [St] Status: MEDLINE

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[PMID]: 28547971 [Au] Autor: Milewicz T; Mrozinska S; Szczepanski W; Bialas M; Kialka M; Doroszewska K; Kabzinska-Turek M; Wojtys A; Ludwin A; Chmura L [Ti] Título: Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. [So] Source: Pol J Pathol;67(4):411-414, 2016. [Is] ISSN: 1233-9687 [Cp] País de publicação: Poland [La] Idioma: eng [Ab] Resumo: We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic test was done which revealed the XY karyotype. Swyer syndrome was diagnosed. The patient did not report for the follow-up visits. Three years later, the woman reported back because of increasing abdominal circumference. The patient underwent an operation. Radical hysterectomy was performed. Histopathological examination showed dysgerminoma and gonadoblastoma on the left gonad and dysgerminoma on the right one. This case report presents the natural history of Swyer syndrome. [Mh] Termos MeSH primário: Disgerminoma/patologia Disgenesia Gonadal 46 XY/complicações Gonadoblastoma/patologia Gônadas/patologia [Mh] Termos MeSH secundário: Adolescente Disgerminoma/genética Feminino Gonadoblastoma/genética Seres Humanos [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170726 [Lr] Data última revisão: 170726 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170527 [St] Status: MEDLINE

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[PMID]: 28030592 [Au] Autor: Fan W; Wang B; He S; Zhang T; Yin C; Chen Y; Zheng S; Zhang J; Li L [Ad] Endereço: Hebei University School of Life Sciences, Baoding, Hebei, China. [Ti] Título: A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. [So] Source: PLoS One;11(12):e0168484, 2016. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus. To make sure no other genes were involved, we performed the trio-based whole exome sequencing using the DNA samples from the proband and the parents, and no mutations were identified especially in DHH, NR0B1, NR5A1, SOX9 and MAP3K1, indicating the de novo mutation in SRY is the single defect responsible for the female sex reversal. We also used bioinformatics simulation analysis to predict impact of the mutation on SRY function, and find the R75 in wild type SRY can form a hydrogen bond with serine at 91 (S91) that make the SRY protein well fit into the minor groove of target DNA, while the M75 in the mutated SRY can't. Finally, we reviewed SRY mutations based on the available references and analyzed the mutation distribution patterns according to density and continuity, which may be useful for further study of the SRY structure, function, and its relatedness with DSD. [Mh] Termos MeSH primário: Transporte Ativo do Núcleo Celular/genética Disgenesia Gonadal 46 XY/genética Disgenesia Gonadal 46 XY/patologia Mutação de Sentido Incorreto/genética Fases de Leitura Aberta/genética Proteína da Região Y Determinante do Sexo/genética [Mh] Termos MeSH secundário: Adulto Feminino Seres Humanos Adulto Jovem [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (SRY protein, human); 0 (Sex-Determining Region Y Protein) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170718 [Lr] Data última revisão: 170718 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161229 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0168484

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[PMID]: 27994190 [Au] Autor: Saranya B; Bhavani G; Arumugam B; Jayashankar M; Santhiya ST [Ad] Endereço: Department of Genetics, Dr. ALMPG Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai 600 113, India. v_santhiya@hotmail.com. [Ti] Título: Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients. [So] Source: J Genet;95(4):911-921, 2016 Dec. [Is] ISSN: 0973-7731 [Cp] País de publicação: India [La] Idioma: eng [Ab] Resumo: Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.3510C>T transition in exon 6 and deletion mutation (n.3672delT) in exon 7. Four mutations identified here lead to the formation of truncated receptor protein, involving a substantial loss of AR functional domains which explains the phenotype in the subjects. The n.1761G>A substitution has been previously reported in cases with mild androgen insensitivity. Although the ligand-binding domain was considered as the mutational hot spot in AR gene, we report here 3/5 variations in the N-terminal domain emphasizing the significance of considering the N-terminal domain of AR as well for mutation screening. Our present observation also strengthens the role of AR gene and its direct association with AIS. [Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/diagnóstico Síndrome de Resistência a Andrógenos/genética Estudos de Associação Genética Disgenesia Gonadal 46 XY/genética Mutação Receptores Androgênicos/genética [Mh] Termos MeSH secundário: Adolescente Adulto Criança Pré-Escolar Bandeamento Cromossômico Análise Mutacional de DNA Éxons Feminino Hormônios/sangue Seres Humanos Cariótipo Masculino Fenótipo Proteína da Região Y Determinante do Sexo/genética Adulto Jovem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Hormones); 0 (Receptors, Androgen); 0 (Sex-Determining Region Y Protein) [Em] Mês de entrada: 1704 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161221 [St] Status: MEDLINE

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2	and or and not		PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2
3	and or and not		PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2

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BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde