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Androgen insensitivity

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https://www.readbyqxmd.com/read/28639228/role-of-20-hydroxyeicosatetraenoic-acid-20-hete-in-androgen-mediated-cell-viability-in-prostate-cancer-cells
#1
Cecilia Colombero, Daniela Papademetrio, Paula Sacca, Eduardo Mormandi, Elida Alvarez, Susana Nowicki
20-Hydroxyeicosatetraenoic acid (20-HETE) is generated intracellularly through the ω-hydroxylation of arachidonic acid by the cytochrome P450 (in humans, CYP4A11 and CYP4F2). 20-HETE induces mitogenic responses in different cancer cells. The aim of this study was to analyze how 20-HETE impacts cell survival, proliferation, and apoptosis in prostate cancer cells. Incubation of the human androgen-sensitive cells (LNCaP) with 1-10 μM HET0016 (a selective inhibitor of 20-HETE synthesis) reduced cell viability by 49*-64%* (*p < 0...
June 21, 2017: Hormones & Cancer
https://www.readbyqxmd.com/read/28624954/ar-mutations-in-28-patients-with-androgen-insensitivity-syndrome-prader-grade-0-3
#2
Yi Wang, Chunxiu Gong, Xiou Wang, Miao Qin
We investigated the androgen receptor (AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome (AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes (Prader grade 0-3). Patients and some family members were screened via amplification and sequencing of their AR exons 1-8, including the corresponding intronic flanking regions. Luteinizing (LH), follicle-stimulating (FSH), and testosterone (T) hormone levels were found to be slightly, but not significantly, higher in patients with complete androgen insensitivity syndrome (CAIS) than in patients with partial androgen insensitivity syndrome (PAIS) (P>0...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28615185/hormone-replacement-treatment-choices-in-complete-androgen-insensitivity-syndrome-an-audit-of-an-adult-clinic
#3
Jennifer K Y Ko, Thomas F J King, Louise Williams, Sarah M Creighton, Gerard S Conway
OBJECTIVE: To review the treatment choices of women with Complete Androgen Insensitivity Syndrome (CAIS) at a single tertiary centre. DESIGN: Retrospective review Patients: Women with CAIS identified from our database. RESULTS: The study group comprised 141 women with CAIS. Eleven percent of women had gonads in situ, 3 of which were under workup for gonadectomy. The age of gonadectomy in the remainder was 17 (0.1-53) years old. The most common form of HRT was oral oestrogen or transdermal oestrogen in 80%...
June 14, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28613048/is-the-second-to-fourth-digit-ratio-2d-4d-a-biomarker-of-sex-steroids-activity
#4
Vincenzo de Sanctis, Ashraf T Soliman, Heba Elsedfy, Nada Soliman, Rania Elalaily, Salvatore Di Maio
The second-to-fourth digit ratio (2D:4D) has been used as an indirect method to investigate the putative effects of prenatal exposure to androgens, and has been reported to be smaller in males than in females. This gender difference in digit length ratios has been linked with the in utero balance of androgens to oestrogen. This sexual dimorphism in 2D:4D ratios is apparent by 2 years of age and seems to be established early in life, possibly by the 14th week of gestation. Digits in females attain their maximum length at about 2...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28611373/is-there-any-clinical-relevant-difference-between-non-mosaic-klinefelter-syndrome-patients-with-or-without-androgen-receptor-variations
#5
Umberto Valente, Cinzia Vinanzi, Savina Dipresa, Riccardo Selice, Massimo Menegazzo, Massimo Iafrate, Carlo Foresta, Andrea Garolla
Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28609774/gonadal-surgery-in-complete-androgen-insensitivity-syndrome-a-debate
#6
Silvano Bertelloni
No abstract text is available yet for this article.
June 14, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28604478/fdg-pet-ct-image-of-seminoma-in-androgen-insensitivity-syndrome
#7
Eun Ji Han, Joo Hyun O, Gun Park, Junguee Lee
We report the FDG PET/CT findings of seminoma in a 21-year-old woman with androgen insensitivity syndrome. PET images showed focal FDG uptake in the left pelvic sidewall, and a hypodense lesion with calcifications was noted in the corresponding CT images. Another smaller hypodense lesion with calcifications was noted in the right pelvic sidewall, but faint FDG uptake. Laparoscopic surgery was performed, and both lesions were pathologically confirmed as seminomas.
June 9, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28556958/downregulation-of-androgen-receptors-by-naaso2-via-inhibition-of-akt-nf-%C3%AE%C2%BAb-and-hsp90-in-castration-resistant-prostate-cancer
#8
Yunlim Kim, Sang Eun Park, Jeong-Weon Moon, Bong-Min Kim, Ha-Gyeong Kim, In Gab Jeong, Sangjun Yoo, Jae Beom Ahn, Dalsan You, Jhang Ho Pak, Sujong Kim, Jung Jin Hwang, Choung-Soo Kim
BACKGROUND: Androgen and androgen receptor (AR) play essential roles in the development and maintenance of prostate cancer. The recently identified AR splice variants (AR-Vs) have been considered as a plausible mechanism for the primary resistance against androgen deprivation therapy (ADT) in castration-resistant prostate cancer (CRPC). Sodium meta-arsenite (NaAsO2 ; KML001; Kominox), a trivalent arsenical, is an orally bioavailable and water soluble, which is currently in phase I/II clinical trials for the treatment of prostate cancer...
May 30, 2017: Prostate
https://www.readbyqxmd.com/read/28545802/attitudes-towards-disorders-of-sex-development-nomenclature-among-affected-individuals
#9
Emilie K Johnson, Ilina Rosoklija, Courtney Finlayson, Diane Chen, Elizabeth B Yerkes, Mary Beth Madonna, Jane L Holl, Arlene B Baratz, Georgiann Davis, Earl Y Cheng
INTRODUCTION: Although now commonly used in medicine, the updated "disorders of sex development" (DSD) nomenclature formally introduced in 2006 has never been universally accepted by members of the affected community, particularly advocacy groups. Use of this nomenclature by medical professionals may unintentionally negatively affect access to healthcare and research for individuals with DSD conditions. OBJECTIVE: Among individuals affected by various DSD diagnoses, this study sought to (1) evaluate attitudes towards potentially controversial DSD terminology, (2) determine potential impact of terminology on how affected individuals access healthcare, and (3) explore alternate terms...
May 8, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28544305/a-practical-guide-for-evaluating-gonadal-germ-cell-tumor-predisposition-in-differences-of-sex-development
#10
REVIEW
Louise C Pyle, Katherine L Nathanson
Differences of Sex Development (DSD) includes a wide spectrum of etiologies and phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor (GCT). In this setting, GCT risk varies widely, depending on the DSD molecular etiology and penetrance. Prognostication based on molecular diagnosis remains challenging, as natural history data specific to recently identified molecular causes of DSD is lacking. In this review, we provide a framework for the clinical geneticist to consider GCT tumor risk in the patient with DSD...
May 25, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28493277/bone-mineral-density-in-complete-androgen-insensitivity-syndrome-and-the-timing-of-gonadectomy
#11
Thomas F J King, Winnie Z M Wat, Sarah M Creighton, Gerard S Conway
OBJECTIVE: Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between age of gonadectomy and BMD in women with CAIS. DESIGN: Retrospective analysis of pre- and post-gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. PATIENTS: One hundred and thirteen women with CAIS...
May 10, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28487303/female-phenotype-with-male-karyotype-a-clinical-enigma
#12
Suja Sukumar, Pavan Uppula, Santosh Kumar, Anil Bhansali
Development of gonadal and phenotypic sex during embryogenesis invariably corresponds to the genotypic sex. However, some disorders of sex development are associated with discordance between the chromosomal, gonadal or phenotypic sex which include complete androgen insensitivity syndrome, 46XY complete gonadal dysgenesis (Swyer syndrome) and, rarely, congenital adrenal hyperplasia due to CYP 17A1 (17α-hydroxylase) deficiency. The enzyme CYP17A1 includes 17α-hydroxylase and 17,20-lyase which are required for the synthesis of cortisol and sex steroids, respectively...
May 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28473226/kennedy-disease-x-linked-recessive-bulbospinal-neuronopathy-a-comprehensive-review-from-pathophysiology-to-therapy
#13
REVIEW
G Querin, G Sorarù, P-F Pradat
Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by expansion of a CAG repeat sequence in exon 1 of the androgen receptor gene (AR) encoding a polyglutamine (polyQ) tract. The polyQ-expanded AR accumulates in nuclei, and initiates degeneration and loss of motor neurons and dorsal root ganglia. While the disease has long been considered a pure lower motor neuron disease, recently, the presence of major hyper-creatine-kinase (CK)-emia and myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide range of clinical manifestations...
May 1, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28456808/heterozygous-nonsense-mutation-in-the-androgen-receptor-gene-associated-with-partial-androgen-insensitivity-syndrome-in-an-individual-with-47-xxy-karyotype
#14
Rafael L Batista, Andresa S Rodrigues, Mirian Y Nishi, Alina C R Feitosa, Nathália L R A Gomes, José Antonia F Junior, Sorahia Domenice, Elaine M F Costa, Berenice B de Mendonça
There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28432720/androgen-receptor-dysfunction-as-a-prevalent-manifestation-in-young-male-carriers-of-a-flna-gene-mutation
#15
Laura Carrera-García, Maximiliano Francisco Rivas-Crespo, María Soledad Fernández García
Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impairment causes diverse blockage degrees of androgenic steroid action, known as androgen insensitivity syndromes. Filamin A, a protein coded by the FLNA gene, is a co-activator of various cytoplasmic factors, including AR. The mutational inactivation of the FLNA gene induces insufficiency of translocation and activation of AR...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422721/functional-analysis-implicating-the-snp-rs61552325-in-erbb2-as-an-effector-for-androgen-insensitive-prostate-cancer-cell-invasion
#16
Xianxiang Xin, Yinmin Gu, Yang Chen, Yuanjie Huang, Zengnan Mo, Yanling Hu
BACKGROUND: As one of the most common cancers in men, the pathogenesis of prostate cancer has been widely researched. Aberrant activation of the erb-b2 receptor tyrosine kinase 2 (ERBB2) has been found to play a critical role in metastatic prostate cancer. In our previous study, we demonstrated that rs61552325 (Pro1140Ala) located in ERBB2 is strongly correlated to prostate cancer. Therefore, we initially studied the effect of rs61552325 on androgen-independent prostate cancer cell metastasis...
May 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28413602/do-sex-differences-in-ceoaes-and-2d-4d-ratios-reflect-androgen-exposure-a-study-in-women-with-complete-androgen-insensitivity-syndrome
#17
Judy van Hemmen, Peggy T Cohen-Kettenis, Thomas D Steensma, Dick J Veltman, Julie Bakker
BACKGROUND: Studies investigating the influence of perinatal hormone exposure on sexually differentiated traits would greatly benefit from biomarkers of these early hormone actions. Click-evoked otoacoustic emissions show sex differences that are thought to reflect differences in early androgen exposure. Women with complete androgen insensitivity syndrome (CAIS), who lack androgen action in the presence of XY-chromosomes, enabled us to study the effect of complete androgen inaction. The main goal was to investigate a possible link between click-evoked otoacoustic emissions and effective androgen exposure and, thus, whether this can be used as a biomarker...
2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28401578/dual-action-of-high-estradiol-doses-on-mnu-induced-prostate-neoplasms-in-a-rodent-model-with-high-serum-testosterone-protective-effect-and-emergence-of-unstable-epithelial-microenvironment
#18
Bianca F Gonçalves, Silvana G P de Campos, Rejane M Góes, Wellerson R Scarano, Sebastião R Taboga, Patricia S L Vilamaior
BACKGROUND: Estrogens are critical players in prostate growth and disease. Estrogen therapy has been the standard treatment for advanced prostate cancer for several decades; however, it has currently been replaced by alternative anti-androgenic therapies. Additionally, studies of its action on prostate biology, resulting from an association between carcinogens and estrogen, at different stages of life are scarce or inconclusive about its protective and beneficial role on induced-carcinogenesis...
June 2017: Prostate
https://www.readbyqxmd.com/read/28391184/thioredoxin-1-modulates-apoptosis-induced-by-bioactive-compounds-in-prostate-cancer-cells
#19
Aida Rodriguez-Garcia, David Hevia, Juan C Mayo, Pedro Gonzalez-Menendez, Lucia Coppo, Jun Lu, Arne Holmgren, Rosa M Sainz
Accumulating evidence suggests that natural bioactive compounds, alone or in combination with traditional chemotherapeutic agents, could be used as potential therapies to fight cancer. In this study, we employed four natural bioactive compounds (curcumin, resveratrol, melatonin, and silibinin) and studied their role in redox control and ability to promote apoptosis in androgen sensitive and insensitive prostate cancer cells. Here is shown that curcumin and resveratrol promote ROS production and induce apoptosis in LNCaP and PC-3...
August 2017: Redox Biology
https://www.readbyqxmd.com/read/28386495/bilateral-sertoli-cell-tumors-in-a-patient-with-androgen-insensitivity-syndrome
#20
Roberta Fonseca de Souza, Janaina Pereira da Silva, Bruno Vieira Balla, Rodrigo Neves Ferreira, Antônio Chambô Filho
Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil...
2017: Case Reports in Obstetrics and Gynecology
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