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Androgen insensitivity

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https://www.readbyqxmd.com/read/27897410/androgen-deprivation-causes-selective-deficits-in-the-biomechanical-leg-muscle-function-of-men-during-walking-a-prospective-case-control-study
#1
Ada S Cheung, Hans Gray, Anthony G Schache, Rudolf Hoermann, Daryl Lim Joon, Jeffrey D Zajac, Marcus G Pandy, Mathis Grossmann
BACKGROUND: Although muscle mass declines with testosterone deficiency in men, previous studies of muscle function have not demonstrated consistent deficits, likely due to relatively insensitive methodology. Our objective was to determine the effects of testosterone deprivation on the biomechanical function of individual lower-limb muscles. METHODS: We conducted a 12-month prospective, observational case-control study of 34 men newly commencing androgen deprivation treatment (ADT) for prostate cancer and 29 age-matched prostate cancer controls...
August 2, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27879256/determination-and-regulation-of-body-composition-in-elite-athletes
#2
Peter Sonksen
In 2011, the International Association of Athletics Federations (IAAF) and IOC introduced a 'hyperandrogenism' rule that excluded women with a serum testosterone >10 nmol/L from participating in elite sport. This rule was based on the false premise that the greater lean body mass in men was a consequence of their higher serum testosterone. This rule did not have scientific backing and the Court of Arbitration for Sport subsequently rescinded the rule following an appeal from an Indian athlete barred from the Commonwealth Games...
November 22, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27862157/gonadal-tumour-risk-in-292-phenotypic-female-patients-with-disorders-of-sex-development-containing-y-chromosome-or-y-derived-sequence
#3
He Huang, Chunqing Wang, Qinjie Tian
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...
October 13, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27856173/fertility-in-disorders-of-sex-development-a-review
#4
REVIEW
J P Van Batavia, T F Kolon
INTRODUCTION: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. METHODS AND MATERIALS: A systematic literature review was performed on Embase(™), PubMed(®), and Google Scholar(™) for disordersof sex development and infertility...
November 3, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27849622/novel-mutations-of-the-srd5a2-and-ar-genes-in-thai-patients-with-46-xy-disorders-of-sex-development
#5
Chupong Ittiwut, Jaturong Pratuangdejkul, Vichit Supornsilchai, Sasipa Muensri, Yodporn Hiranras, Taninee Sahakitrungruang, Suttipong Watcharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD...
November 16, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27821113/case-report-of-whole-genome-sequencing-in-the-xy-female-identification-of-a-novel-sry-mutation-and-revision-of-a-misdiagnosis-of-androgen-insensitivity-syndrome
#6
Sunita M C De Sousa, Karin S Kassahn, Liam C McIntyre, Chan-Eng Chong, Hamish S Scott, David J Torpy
BACKGROUND: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION: Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was later questioned due to the presence of intact Müllerian structures...
November 8, 2016: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/27807335/-clinical-features-of-a-genetically-identified-spinal-and-%C3%A2-bulbar-muscular-atrophy-pedigree
#7
Zhe Wang, Qihua Chen, Qiuxiang Li, Fangfang Bi
Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage...
October 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#8
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27793987/the-amino-terminal-domain-of-the-androgen-receptor-co-opts-erk-docking-sites-in-elk1-to-induce-sustained-gene-activation-that-supports-prostate-cancer-cell-growth
#9
Rayna Rosati, Mugdha Patki, Venkatesh Chari, Selvakumar Dakshnamurthy, Thomas McFall, Janice Saxton, Benjamin L Kidder, Peter E Shaw, Manohar Ratnam
The ETS domain transcription factor ELK1 is in a repressive association with growth genes and is transiently activated through phosphorylation by ERK1/2. In prostate cancer (PCa) cells the androgen receptor (AR) is recruited by ELK1, via its amino-terminal domain (A/B), as a transcriptional co-activator, without ELK1 hyper-phosphorylation. Here we elucidate the structural basis of the interaction of AR with ELK1. The ELK1 polypeptide motifs required for co-activation by AR vs. those required for activation of ELK1 by ERK were systematically mapped using a mammalian two-hybrid system and confirmed using a co-immunoprecipitation assay...
October 28, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27788530/creation-of-a-neovagina-by-laparoscopic-modified-vecchietti-technique-anatomic-and-functional-results
#10
Eduardo Baptista, Giselda Carvalho, Carlos Nobre, Isabel Dias, Isabel Torgal
Purpose To evaluate the anatomic and functional results of a laparoscopic modified Vecchietti technique for the creation of a neovagina in patients with congenital vaginal aplasia. Methods Retrospective study of nine patients with congenital vaginal aplasia submitted to the laparoscopic Vecchietti procedure, in our department, between 2006 and 2013. The anatomical results were evaluated by assessing the length, width and epithelialization of the neovagina at the postoperative visits. The functional outcome was evaluated using the Rosen Female Sexual Function Index (FSFI) questionnaire and comparing the patients' results to those of a control group of 20 healthy women...
September 2016: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/27785439/malignancy-in-disorders-of-sex-development
#11
REVIEW
Martin Kathrins, Thomas F Kolon
Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible markers and treatment. The goal is to inform the members of the DSD team (urologist, endocrinologist, geneticist, psychologist) of the latest findings regarding malignancy in DSD...
October 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27741188/disorders-of-sexual-development-in-adult-women
#12
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
November 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27696245/immunophenotypic-differences-between-neoplastic-and-non-neoplastic-androgen-producing-cells-containing-and-lacking-reinke-crystals
#13
Hector Mesa, Scott Gilles, Milton W Datta, Paari Murugan, Wendy Larson, Susan Dachel, Carlos Manivel
We performed a detailed morphologic, immunophenotypic, and endocrine characterization of neoplastic and non-neoplastic lesions of androgen-producing cells known to harbor or lack Reinke crystals (RCs) with an aim to provide further insight into the nature of these cells and crystals. Study cases were selected from the files of participating hospitals and subclassified according to current classifications: 20 with Leydig cell tumors (LCTs), 2 with testicular adrenal rest tumors (TARTs), 2 with testicular tumors of adrenogenital syndrome (TTAGS), and 2 with androgen insensitivity syndrome (AIS)...
December 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27693242/a-quantitative-study-on-splice-variants-of-n-acylethanolamine-acid-amidase-in-human-prostate-cancer-cells-and-other-cells
#14
Yuma Sakura, Kazuhito Tsuboi, Toru Uyama, Xia Zhang, Rikiya Taoka, Mikio Sugimoto, Yoshiyuki Kakehi, Natsuo Ueda
N-Acylethanolamine acid amidase (NAAA) is a lysosomal enzyme, hydrolyzing various bioactive N-acylethanolamines with a preference for palmitoylethanolamide. Human NAAA mRNA was previously reported to consist of multiple 3'-end splice variants. However, their tissue distributions and roles have not been examined yet. In the present study, we first identified four major splice variants (tentatively referred to as a1, a2, b2, and c2) in a human prostate cancer cell line LNCaP, which were composed of exons 1-11, exons 1-10 and 12, exons 1-9 and 12, and exons 1-8 and 12, respectively...
October 5, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27692835/hepatoma-derived-growth-factor-a-survival-related-protein-in-prostate-oncogenesis-and-a-potential-target-for-vitamin-k2
#15
Aditya Shetty, Subramanyam Dasari, Souresh Banerjee, Taher Gheewala, Guoxing Zheng, Aoshuang Chen, Andre Kajdacsy-Balla, Maarten C Bosland, Gnanasekar Munirathinam
Hepatoma-derived growth factor (HDGF) is a heparin-binding growth factor, which has previously been shown to be expressed in a variety of cancers. HDGF overexpression has also previously been correlated with a poor prognosis in several cancers. The significance of HDGF in prostate cancer, however, has not been investigated. Here, we show that HDGF is overexpressed in both androgen-sensitive LNCaP cells and androgen-insensitive DU145, 22RV1, and PC-3 cells. Forced overexpression enhanced cell viability of RWPE-1 cells, whereas HDGF knockdown reduced cell proliferation in human prostate cancer cells...
November 2016: Urologic Oncology
https://www.readbyqxmd.com/read/27651630/complete-androgen-insensitivity-syndrome-in-three-generations-of-indian-pedigree
#16
Bibhas Kar, Subbiah Sivamani, Shankar Kundavi, Thankam Rama Varma
BACKGROUND: Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile)...
October 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27649694/gender-issues-and-related-social-stigma-affecting-patients-with-a-disorder-of-sex-development-in-india
#17
Angela Ann Joseph, Bindu Kulshreshtha, Iram Shabir, Eunice Marumudi, Tony Sam George, Rajesh Sagar, Manju Mehta, Ariachery C Ammini
Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD)...
September 20, 2016: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/27623747/refinement-of-the-androgen-response-element-based-on-chip-seq-in-androgen-insensitive-and-androgen-responsive-prostate-cancer-cell-lines
#18
Stephen Wilson, Jianfei Qi, Fabian V Filipp
Sequence motifs are short, recurring patterns in DNA that can mediate sequence-specific binding for proteins such as transcription factors or DNA modifying enzymes. The androgen response element (ARE) is a palindromic, dihexameric motif present in promoters or enhancers of genes targeted by the androgen receptor (AR). Using chromatin immunoprecipitation sequencing (ChIP-Seq) we refined AR-binding and AREs at a genome-scale in androgen-insensitive and androgen-responsive prostate cancer cell lines. Model-based searches identified more than 120,000 ChIP-Seq motifs allowing for expansion and refinement of the ARE...
September 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27615164/-female-typical-neural-activation-in%C3%A2-women-with-complete-androgen-insensitivity-syndrome
#19
Julie Bakker, Judy van Hemmen
No abstract text is available yet for this article.
August 2016: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/27609317/complete-androgen-insensitivity-syndrome-caused-by-a-deep-intronic-pseudoexon-activating-mutation-in-the-androgen-receptor-gene
#20
Johanna Känsäkoski, Jarmo Jääskeläinen, Tiina Jääskeläinen, Johanna Tommiska, Lilli Saarinen, Rainer Lehtonen, Sampsa Hautaniemi, Mikko J Frilander, Jorma J Palvimo, Jorma Toppari, Taneli Raivio
Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain in patients who show normal coding region of AR. Here, we describe a novel mechanism of AR disruption leading to CAIS in two 46,XY sisters. We analyzed whole-genome sequencing data of the patients for pathogenic variants outside the AR coding region. Patient fibroblasts from the genital area were used for AR cDNA analysis and protein quantification...
2016: Scientific Reports
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