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[PMID]:29378242
[Au] Autor:Wang X; Xue M; Zhao M; He F; Li C; Li X
[Ad] Dirección: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] Fuente:Gene;651:143-151, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicación:Netherlands
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Disgenesia Gonadal 46 XY/genética
Mutación Missense
Proteína de la Región Y Determinante del Sexo/genética
[Mh] Términos MeSH secundario: Transporte Activo de Núcleo Celular
Adolescente
Adulto
Alanina
ADN/metabolismo
Femenino
Células HEK293
Seres Humanos
Cariotipificación
Masculino
Unión Proteica
Conformación Proteica
Análisis de Secuencia de ADN
Proteína de la Región Y Determinante del Sexo/química
Proteína de la Región Y Determinante del Sexo/metabolismo
Treonina
Adulto Joven
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (Sex-Determining Region Y Protein); 2ZD004190S (Threonine); 9007-49-2 (DNA); OF5P57N2ZX (Alanine)
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento: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] Dirección: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] Fuente:Anticancer Res;37(7):3975-3979, 2017 07.
[Is] ISSN:1791-7530
[Cp] País de publicación:Greece
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Síndrome de Frasier/cirugía
Gonadoblastoma/diagnóstico por imagen
Neoplasias Ováricas/diagnóstico por imagen
Proteínas WT1/genética
[Mh] Términos MeSH secundario: Adolescente
Femenino
Síndrome de Frasier/complicaciones
Síndrome de Frasier/genética
Disgenesia Gonadal 46 XY
Seres Humanos
Mutación
Ovariectomía
Salpingectomía
Tomografía Computarizada por Rayos X
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (WT1 Proteins); 0 (WT1 protein, human)
[Em] Mes de ingreso:1708
[Cu] Fecha actualización por clase:170906
[Lr] Fecha última revisión:170906
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento: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] Fuente:Endocr Pract;23(5):576-582, 2017 May.
[Is] ISSN:1530-891X
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Hiperplasia Suprarrenal Congénita/diagnóstico
Hiperplasia Suprarrenal Congénita/genética
Esteroide 17-alfa-Hidroxilasa/genética
[Mh] Términos MeSH secundario: Trastornos del Desarrollo Sexual 46, XX/genética
Trastornos del Desarrollo Sexual 46, XX/patología
Adolescente
Hiperplasia Suprarrenal Congénita/patología
Hormona Adrenocorticotrópica/sangre
Adulto
Amenorrea/genética
Amenorrea/patología
China
Análisis Mutacional de ADN
Femenino
Hormona Folículo Estimulante/sangre
Disgenesia Gonadal 46 XY/genética
Disgenesia Gonadal 46 XY/patología
Seres Humanos
Adulto Joven
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
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] Mes de ingreso:1707
[Cu] Fecha actualización por clase:170713
[Lr] Fecha última revisión:170713
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:170223
[St] Status:MEDLINE
[do] DOI:10.4158/EP161610.OR


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[PMID]:28213853
[Au] Autor:Kehoe JE; Christman MS
[Ad] Dirección: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] Fuente:Curr Urol Rep;18(2):9, 2017 Feb.
[Is] ISSN:1534-6285
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Enfermedades Testiculares/terapia
Testículo
[Mh] Términos MeSH secundario: Disgenesia Gonadal 46 XY/terapia
Seres Humanos
Masculino
Orquidopexia
Factores de Riesgo
Enfermedades Testiculares/patología
Enfermedades Testiculares/fisiopatología
Testículo/anomalías
Testículo/patología
Testículo/fisiopatología
[Pt] Tipo de publicación:JOURNAL ARTICLE; REVIEW
[Em] Mes de ingreso:1705
[Cu] Fecha actualización por clase:171107
[Lr] Fecha última revisión:171107
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:170219
[St] Status:MEDLINE
[do] DOI:10.1007/s11934-017-0657-z


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[PMID]:27896428
[Au] Autor:Sun YX; Zhang YX; Zhang D; Xu CM; Chen SC; Zhang JY; Ruan YC; Chen F; Zhang RJ; Qian YQ; Liu YF; Jin LY; Yu TT; Xu HY; Luo YQ; Liu XM; Sun F; Sheng JZ; Huang HF
[Ad] Dirección:Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, 310058, Zhejiang, China.
[Ti] Título:XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a.
[So] Fuente:Hum Genet;136(2):227-239, 2017 Feb.
[Is] ISSN:1432-1203
[Cp] País de publicación:Germany
[La] Idioma:eng
[Ab] Resumen:Mechanisms underlying female gonadal dysgenesis remain unclarified and relatively unstudied. Whether X-chromosome inactivation (XCI)-escaping genes and microRNAs (miRNAs) contribute to this condition is currently unknown. We compared 45,X Turner Syndrome women with 46,XX normal women, and investigated differentially expressed miRNAs in Turner Syndrome through plasma miRNA sequencing. We found that miR-320a was consistently upregulated not only in 45,X plasma and peripheral blood mononuclear cells (PBMCs), but also in 45,X fetal gonadal tissues. The levels of miR-320a in PBMCs from 45,X, 46,XX, 46,XY, and 47,XXY human subjects were inversely related to the expression levels of XCI-escaping gene KDM5C in PBMCs. In vitro models indicated that KDM5C suppressed miR-320a transcription by directly binding to the promoter of miR-320a to prevent histone methylation. In addition, we demonstrated that KITLG, an essential gene for ovarian development and primordial germ cell survival, was a direct target of miR-320a and that it was downregulated in 45,X fetal gonadal tissues. In conclusion, we demonstrated that downregulation of miR-320a by the XCI-escaping gene KDM5C contributed to ovarian development by targeting KITLG.
[Mh] Términos MeSH primario: Histona Demetilasas/genética
MicroARNs/genética
Ovario/crecimiento & desarrollo
Síndrome de Turner/genética
Inactivación del Cromosoma X/genética
[Mh] Términos MeSH secundario: Adolescente
Adulto
Secuencia de Aminoácidos
Línea Celular Tumoral
Inmunoprecipitación de Cromatina
Regulación hacia Abajo
Femenino
Regulación de la Expresión Génica
Ontología de Genes
Células HEK293
Seres Humanos
Leucocitos Mononucleares/metabolismo
MicroARNs/sangre
Regiones Promotoras Genéticas
Análisis de Secuencia de ARN
Regulación hacia Arriba
Adulto Joven
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (MIRN320 microRNA, human); 0 (MIRN486 microRNA, human); 0 (MicroRNAs); EC 1.14.11.- (Histone Demethylases); EC 1.14.11.- (KDM5C protein, human)
[Em] Mes de ingreso:1707
[Cu] Fecha actualización por clase:171010
[Lr] Fecha última revisión:171010
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:161130
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-016-1752-9


  6 / 985 MEDLINE  
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[PMID]:27862157
[Au] Autor:Huang H; Wang C; Tian Q
[Ad] Dirección: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] Fuente:Clin Endocrinol (Oxf);86(4):621-627, 2017 Apr.
[Is] ISSN:1365-2265
[Cp] País de publicación:England
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Cromosomas Humanos Y/genética
Trastornos del Desarrollo Sexual/genética
Neoplasias de Tejido Gonadal/genética
[Mh] Términos MeSH secundario: Adolescente
Adulto
Síndrome de Resistencia Androgénica
Secuencia de Bases
Niño
Manejo de la Enfermedad
Femenino
Disgenesia Gonadal 46 XY
Seres Humanos
Masculino
Neoplasias de Células Germinales y Embrionarias/etiología
Fenotipo
Estudios Retrospectivos
Riesgo
Esteroide 17-alfa-Hidroxilasa
Adulto Joven
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mes de ingreso:1710
[Cu] Fecha actualización por clase:171010
[Lr] Fecha última revisión:171010
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento: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] Dirección: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] Fuente:Horm Metab Res;49(1):36-42, 2017 Jan.
[Is] ISSN:1439-4286
[Cp] País de publicación:Germany
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Disgenesia Gonadal 46 XY/genética
Heterocigoto
Mutación
[Mh] Términos MeSH secundario: Adolescente
Adulto
Niño
Preescolar
Receptor Nuclear Huérfano DAX-1/genética
Análisis Mutacional de ADN/métodos
Femenino
Genes sry
Proteínas Hedgehog/genética
Seres Humanos
Lactante
Masculino
Factor de Transcripción SOX9/genética
Factor Esteroidogénico 1/genética
Factores de Transcripción/genética
Adulto Joven
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
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] Mes de ingreso:1703
[Cu] Fecha actualización por clase:170327
[Lr] Fecha última revisión:170327
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento: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] Fuente:Turk J Pediatr;58(5):538-540, 2016.
[Is] ISSN:0041-4301
[Cp] País de publicación:Turkey
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Disgenesia Gonadal 46 XY/complicaciones
Disgenesia Gonadal/complicaciones
Gonadoblastoma/complicaciones
[Mh] Términos MeSH secundario: Adolescente
Femenino
Seres Humanos
Cariotipo
Laparoscopía
Imagen por Resonancia Magnética
Neoplasias Ováricas/cirugía
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Em] Mes de ingreso:1709
[Cu] Fecha actualización por clase:170915
[Lr] Fecha última revisión:170915
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:170617
[St] Status:MEDLINE


  9 / 985 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] Fuente:Pol J Pathol;67(4):411-414, 2016.
[Is] ISSN:1233-9687
[Cp] País de publicación:Poland
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Disgerminoma/patología
Disgenesia Gonadal 46 XY/complicaciones
Gonadoblastoma/patología
Gónadas/patología
[Mh] Términos MeSH secundario: Adolescente
Disgerminoma/genética
Femenino
Gonadoblastoma/genética
Seres Humanos
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Em] Mes de ingreso:1707
[Cu] Fecha actualización por clase:170726
[Lr] Fecha última revisión:170726
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:170527
[St] Status:MEDLINE


  10 / 985 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] Dirección: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] Fuente:PLoS One;11(12):e0168484, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen: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] Términos MeSH primario: Transporte Activo de Núcleo Celular/genética
Disgenesia Gonadal 46 XY/genética
Disgenesia Gonadal 46 XY/patología
Mutación Missense/genética
Sistemas de Lectura Abierta/genética
Proteína de la Región Y Determinante del Sexo/genética
[Mh] Términos MeSH secundario: Adulto
Femenino
Seres Humanos
Adulto Joven
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (SRY protein, human); 0 (Sex-Determining Region Y Protein)
[Em] Mes de ingreso:1707
[Cu] Fecha actualización por clase:170718
[Lr] Fecha última revisión:170718
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:161229
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0168484



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