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Androgen insensitivity

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https://www.readbyqxmd.com/read/28905769/re-topical-dihydrotestosterone-to-treat-micropenis-secondary-to-partial-androgen-insensitivity-syndrome-pais-before-during-and-after-puberty-a-case-series
#1
https://www.readbyqxmd.com/read/28879700/whole-exome-sequencing-identifies-a-c-c2566t-mutation-in-the-androgen-receptor-in-a-chinese-family
#2
Zengge Wang, Yulin Zhou, Ruijuan Yang, Zhongmin Xia, Huan Zeng, Liya Du, Jun Ren, Qiwei Guo
BACKGROUND: Whole exome sequencing (WES) is one of the most valuable tools for the detection of Mendelian diseases in clinical laboratory. We performed WES for a family of 46,XY disorders of gender development and compared the applicability of public databases for the subsequent phenotype studies of WES-identified mutations. METHODS: DNA samples from the two patients were analyzed by WES. The mutated protein was studied using the HomoloGene database, Polyphen2, and SIFT...
September 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28867417/increased-psychiatric-morbidity-in-women-with-complete-androgen-insensitivity-syndrome-or-complete-gonadal-dysgenesis
#3
Hedvig Engberg, Anna Strandqvist, Anna Nordenström, Agnieszka Butwicka, Agneta Nordenskjöld, Angelica Lindén Hirschberg, Louise Frisén
OBJECTIVE: Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of psychiatric morbidity in adult women diagnosed with complete androgen insensitivity syndrome (CAIS) or complete gonadal dysgenesis (46,XY GD and 46,XX GD) differs from that in women with premature ovarian insufficiency (POI) or age-matched population controls. METHODS: This cross-sectional study was conducted at the Karolinska University Hospital, Stockholm, Sweden, and included 33 women with different DSDs: 20 CAIS, 6 46,XY GD, 7 46,XX GD, 21 women with POI and 61 population-derived controls...
August 8, 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28846663/chemopreventive-potential-of-ethanolic-extracts-of-luobuma-leaves-apocynum-venetum-l-in-androgen-insensitive-prostate-cancer
#4
Szu-Ping Huang, Tzu-Ming Ho, Chih-Wen Yang, Ya-Ju Chang, Jie-Fu Chen, Ning-Sing Shaw, Jia-Cherng Horng, Shih-Lan Hsu, Ming-Yuan Liao, Li-Chen Wu, Ja-An Annie Ho
Luobuma (Apocynum venetum L. (AVL)) is a popular beverage in Asia and has been reportedly to be associated with the bioactivities such as cardiotonic, diuretic, antioxidative, and antihypertensive. However, its biofunction as chemoprevention activity is seldom addressed. Herein, we aimed to characterize the anti-androgen-insensitive-prostate-cancer (anti-AIPC) bioactive compounds of Luobuma, and to investigate the associated molecular mechanisms. Activity-guided-fractionation (antioxidative activity and cell survivability) of Luobuma ethanolic extracts was performed to isolate and characterize the major bioactive compounds using Ultra Performance Liquid Chromatography (UPLC), Liquid Chromatography-Mass Spectrometry (LC-MS), and Nuclear Magnetic Resonance (NMR)...
August 28, 2017: Nutrients
https://www.readbyqxmd.com/read/28835168/structure-activity-relationship-analysis-of-carbobicyclo-and-oxabicyclo-succinimide-analogues-as-potential-androgen-receptor-antagonists
#5
Lingyan Wang, Jiazhong Li
Prostate cancer (PCa) is a frequently diagnosed male cancer and the second leading cause of cancer-related death in many countries. Due to various amino acid mutations occurred in the ligand binding domain of androgen receptor (AR), the patients were observed insensitive, even resistant to the marketed antiandrogens such as bicalutamide and enzalutamide, which emphasizes the urgent need for novel antiandrogens to solve drug resistance problem. Recently a series of carbobicyclo and oxabicyclo succinimide analogues were reported to effectively antagonize AR...
August 23, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#6
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28816296/-complete-androgen-insensitivity-syndrome-associated-with-vesical-fistula-a-case-report-and-literature-review
#7
K H Hua, L Yang, X W Zhang, W J Bai, Q Li, T Xu
Androgen insensitivity syndrome (AIS) is a very uncommon genetic disorder that results from the resistance of androgen receptor (AR) to androgen, which influences the formation of the male genitalia and in turn presents with female phenotype. Surgical resection of undesceaded testicle and different kinds of genitoplasty are crucial methods to correct the deformity of reproductive system, as well as hormone replacement therapy, which is an essential therapy for postoperational rehabilitation in AIS patients...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28803809/improved-androgen-specificity-of-ar-ecoscreen-by-crispr-based-glucocorticoid-receptor-knockout
#8
Nick Zwart, Dave Andringa, Willem-Jan de Leeuw, Hiroyuki Kojima, Mitsuru Iida, Corine J Houtman, Jacob de Boer, Jeroen Kool, Marja H Lamoree, Timo Hamers
The AR-EcoScreen is a widely used reporter assay for the detection of androgens and anti-androgens. Endogenous expression of glucocorticoid receptors and their affinity for the androgen responsive element that drives reporter expression, however, makes the reporter cells sensitive to interference by glucocorticoids and less specific for (anti-)androgens. To create a glucocorticoid insensitive derivative of the AR-EcoScreen, CRISPR/Cas9 genome editing was used to develop glucocorticoid receptor knockout mutants by targeting various sites in the glucocorticoid gene...
August 11, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28802954/creation-of-a-neovagina-by-laparoscopic-modified-davydov-vaginoplasty-in-patients-with-partial-androgen-insensitivity-syndrome
#9
Stefano Bianchi, Nicola Berlanda, Federica Brunetti, Alessandro Bulfoni, Cecilia Ferrero Caroggio, Luigi Fedele
STUDY OBJECTIVE: To evaluate the feasibility, safety, and outcome of laparoscopic modified Davydov vaginoplasty in subjects with partial androgen insensitivity syndrome (PAIS). DESIGN: A retrospective cohort study (Canadian Task Force classification III). SETTING: A tertiary referral center. PATIENTS: Ten continuous patients operated on between October 2008 and May 2014. INTERVENTIONS: Laparoscopic modified Davydov vaginoplasty...
August 9, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28791271/female-with-46-xy-karyotype
#10
Eun Jung Jung, Do Hwa Im, Yong Hee Park, Jung Mi Byun, Young Nam Kim, Dae Hoon Jeong, Moon Su Sung, Ki Tae Kim, Hyo Jung An, Soo Jin Jung, Kyung Bok Lee
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy...
July 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28783760/total-glucosides-of-paeony-inhibits-lipopolysaccharide-induced-proliferation-migration-and-invasion-in-androgen-insensitive-prostate-cancer-cells
#11
Zhi-Hui Zhang, Dong-Dong Xie, Shen Xu, Mi-Zhen Xia, Zhi-Qiang Zhang, Hao Geng, Lei Chen, Da-Ming Wang, Wei Wei, De-Xin Yu, De-Xiang Xu
Previous studies demonstrated that inflammatory microenvironment promoted prostate cancer progression. This study investigated whether total glucosides of paeony (TGP), the active constituents extracted from the root of Paeonia Lactiflora Pall, suppressed lipopolysaccharide (LPS)-stimulated proliferation, migration and invasion in androgen insensitive prostate cancer cells. PC-3 cells were incubated with LPS (2.0 μg/mL) in the absence or presence of TGP (312.5 μg /mL). As expected, cells at S phase and nuclear CyclinD1, the markers of cell proliferation, were increased in LPS-stimulated PC-3 cells...
2017: PloS One
https://www.readbyqxmd.com/read/28756013/5-or-and-20-o-alkyl-2-3-dehydrosilybins-synthesis-and-biological-profiles-on-prostate-cancer-cell-models
#12
Bao Vue, Xiaojie Zhang, Timmy Lee, Nandini Nair, Sheng Zhang, Guanglin Chen, Qiang Zhang, Shilong Zheng, Guangdi Wang, Qiao-Hong Chen
To investigate the effects of alkylation at 5-OH and 20-OH of 2,3-dehydrosilybin on prostate cancer cell proliferation, the synthetic approaches to 5- or/and 20-O-alkyl-2,3-dehydrosilybins, through a multi-step sequence from commercially available silybin, have been successfully developed. The first three reactions in the syntheses were completed through a one-pot procedure by managing anaerobic and aerobic conditions. With these synthetic methods in hand, twenty-one 2,3-dehydrosilybins, including seven 20-O-alkyl, seven 5,20-O-dialkyl, and seven 5-O-alkyl-2,3-dehydrosilybins, have been achieved for the evaluation of their biological profiles...
September 1, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28754872/tunicamycin-induced-endoplasmic-reticulum-stress-promotes-apoptosis-of-prostate-cancer-cells-by-activating-mtorc1
#13
Prasun Guha, Engin Kaptan, Padmaja Gade, Dhananjaya V Kalvakolanu, Hafiz Ahmed
Studies suggest that tunicamycin may work as a therapeutic drug to cancer cells by inducing stress in the endoplasmic reticulum (ER) through unfolded protein response (UPR) and thereby promoting apoptosis. However, mechanisms of the prolonged activation of the UPR under sustained ER stress in the regulation of cell apoptosis are largely unknown. To delineate the role of candidate genes in the apoptotic process under ER stress and to search for new therapeutic strategies to treat metastatic castration resistant prostate cancer, we performed whole genome expression microarray analysis in tunicamycin treated metastatic androgen-insensitive prostate cancer cells, PC-3...
July 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28743543/a-recurrent-synonymous-mutation-in-the-human-androgen-receptor-gene-causing-complete-androgen-insensitivity-syndrome
#14
Rafael Loch Batista, Andresa di Santi Rodrigues, Mirian Yumie Nishi, Nathalia Lisboa Rosa Almeida Gomes, José Antonio Diniz Faria, Daniela Rodrigues de Moraes, Luciani Renata Carvalho, Elaine Maria Costa Frade, Sorahia Domenice, Berenice Bilharinho de Mendonca
Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS)...
July 22, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28742384/antiproliferative-effects-of-red-and-white-wine-extracts-in-pc-3-prostate-cancer-cells
#15
Roxane Tenta, Elizabeth Fragopoulou, Magafoula Tsoukala, Marianna Xanthopoulou, Maria Skyrianou, Harris Pratsinis, Dimitris Kletsas
Experimental and epidemiological studies have shown that antioxidant polyphenols can act as chemopreventive agents against prostate cancer. Cabernet Sauvignon and Rombola wine were extracted in order to obtain fractions containing different classes of compounds. All extracts inhibited the androgen-insensitive human prostate cancer cells (PC-3) proliferation in a dose-dependent manner. The most potent compounds were selected to be further tested.Treatment of PC-3 cells with the selected wine extracts marginally increased the cell distribution in S phase, while producing a remarkable induction of autophagy...
July 25, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28719918/-the-wish-for-a-child-in-the-case-of-permanent-infertility-development-of-the-german-questionnaire-on-attitudes-toward-motherhood
#16
Maike Fliegner, Hertha Richter-Appelt, Kerstin Krupp, Franziska Brunner
Study 1 Development of the questionnaire Most questionnaires on attitudes toward motherhood presume that the subject is fertile and positive and negative attitudes are represented on a one-dimensional scale. Moreover, the questionnaires often do not provide German versions and German norms. The aim of this study is to examine whether the German Questionnaire on Attitudes toward Motherhood ("FEMu") can be used to describe attitudes toward motherhood multi-dimensionally and whether it is applicable independent of a person's fertility status...
July 18, 2017: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/28719904/gonadectomy-in-complete-androgen-insensitivity-syndrome-why-and-when
#17
Ulla Döhnert, Lutz Wünsch, Olaf Hiort
Prophylactic gonadectomy has been recommended in complete androgen insensitivity syndrome (CAIS) because of an increased risk for the development of malignant germ cell tumors in the intra-abdominal gonads. No reliable screening parameters are available to detect early (pre-)malignant changes. Because the tumor risk before puberty is very low, the timing of gonadectomy has been postponed to allow spontaneous puberty and involvement of the patients in important decisions affecting their body and health. Gonadectomy after puberty is still discussed controversially...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28719895/update-on-the-pathophysiology-and-risk-factors-for-the-development-of-malignant-testicular-germ-cell-tumors-in-complete-androgen-insensitivity-syndrome
#18
Martine Cools, Leendert Looijenga
Prophylactic gonadectomy in young adult women with complete androgen insensitivity syndrome (CAIS) to avoid development of an invasive testicular germ cell tumor (TGCT) is currently advised in most centers. However, women with CAIS increasingly question the need of this procedure. In order to provide optimal counseling and follow-up of these women, insight in the mechanisms underlying TGCT development in androgen insensitivity syndrome (AIS), data regarding the incidence of TGCT in AIS adults specifically, and an overview of existing and novel screening tools for in situ and invasive neoplastic lesions are crucial...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28715798/bone-mineral-density-in-women-living-with-complete-androgen-insensitivity-syndrome-and-intact-testes-or-removed-gonads
#19
Silvano Bertelloni, Maria C Meriggiola, Elenora Dati, Antonio Balsamo, Giampiero I Baroncelli
Complete androgen insensitivity syndrome (CAIS) is due to complete androgen resistance in androgen-dependent tissues. Since androgens are involved in growth, development, and mass maintenance of the skeleton, bone health may be a relevant clinical issue for improving quality of life of women living with CAIS. Bone mineral density (BMD) in women with CAIS and intact gonads has been reported in a normal range, although exceptions are known showing a low BMD mainly at the lumbar level. In women with CAIS and removed gonads, BMD is usually reduced at both the lumbar spine and femoral neck...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28688959/from-gene-to-therapy-in-spinal-and-bulbar-muscular-atrophy-are-we-there-yet
#20
REVIEW
Maria Pennuto, Carlo Rinaldi
Abnormal polyglutamine expansions in the androgen receptor (AR) cause a muscular condition, known as Kennedy's disease or spinal and bulbar muscular atrophy (SBMA). The disease is transmitted in an X-linked fashion and is clinically characterized by weakness, atrophy and fasciculations of the limb and bulbar muscles as a result of a toxic gain-of-function of the mutant protein. Notably, affected males also show signs of androgen insensitivity, such as gynaecomastia and reduced fertility. The characterization of the natural history of the disease, the increasing understanding of the mechanism of pathogenesis and the elucidation of the functions of normal and mutant AR have offered a momentum for developing a rational therapeutic strategy for this disease...
July 5, 2017: Molecular and Cellular Endocrinology
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