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Androgen insensitivity

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https://www.readbyqxmd.com/read/28081535/efficacy-and-safety-of-continuous-subcutaneous-infusion-of-recombinant-human-gonadotropins-for-congenital-micropenis-during-early-infancy%C3%A2
#1
Athanasia Stoupa, Dinane Samara-Boustani, Isabelle Flechtner, Graziella Pinto, Isabelle Jourdon, Laura González-Briceño, Maud Bidet, Kathleen Laborde, Didier Chevenne, Anne-Elodie Millischer, Henri Lottmann, Thomas Blanc, Yves Aigrain, Michel Polak, Jacques Beltrand
BACKGROUND: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. METHODS: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1)...
January 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28079402/sexual-dysfunction-in-premenopausal-women-could-be-related-to-hormonal-profile
#2
Fabiene Bernardes Castro Vale, Bruna Barbosa Coimbra, Gerson Pereira Lopes, Selmo Geber
Female sexual dysfunction (FSD) is a public health problem that affects women's quality of life. Although the relationship between some hormones and the FSD has been described, it is not well established for all hormones. Therefore, the aim of our study was to evaluate the association between hormonal dysfunction and sexual dysfunction in premenopausal women. We performed a cross-sectional study with 60 patients with regular menstrual cycles, with age ranging from 18 to 44 years, with previous diagnosis of FSD...
January 12, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28070912/role-of-testosterone-and-y-chromosome-genes-for-the-masculinization-of-the-human-brain
#3
Ivanka Savic, Louise Frisen, Amirhossein Manzouri, Anna Nordenstrom, Angelica Lindén Hirschberg
: Women with complete androgen insensitivity syndrome (CAIS) have a male (46,XY) karyotype but no functional androgen receptors. Their condition, therefore, offers a unique model for studying testosterone effects on cerebral sex dimorphism. We present MRI data from 16 women with CAIS and 32 male (46,XY) and 32 female (46,XX) controls. METHODS: FreeSurfer software was employed to measure cortical thickness and subcortical structural volumes. Axonal connections, indexed by fractional anisotropy, (FA) were measured with diffusion tensor imaging, and functional connectivity with resting state fMRI...
January 10, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28057092/-the-prenatal-genetic-diagnosis-of-a-family-with-complete-androgen-insensitivity-syndrome
#4
W Q Wu, Y Liu, Q Geng, F W Luo, W B Chen, H Yuan, J S Xie
Objective: To identify the Androgen Receptor (AR) gene mutation of one family with complete androgen insensitivity syndrome (CAIS) and to establish the methods of prenatal genetic diagnosis for CAIS. Methods: The AR gene exons of the family were amplified by PCR and sequenced directly. Linkage analysis was performed by using the CAG repeats in the exon1 of AR gene to assure accuracy of the prenatal diagnosis. Results: We found a frameshift mutation c. 2546del A (p. Asn849Ile fsX34) in the exon7 of AR gene in the proband...
December 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28039344/complete-androgen-insensitivity-syndrome-with-concomitant-seminoma-and-sertoli-cell-adenoma-an-unusual-combination
#5
Balamurugan Thirunavukkarasu, Asit Ranjan Mridha, Neena Malhotra, Sheragaru Hanumanthappa Chandrashekhara
Androgen insensitivity syndrome is a rare disorder of sex development and its clinical manifestations vary from subtle male infertility to an overt complete androgen insensitivity syndrome (CAIS) with a female phenotype. CAIS is often diagnosed at puberty or in adolescence during investigation for primary amenorrhoea. Undiagnosed patients have an increased risk of development of malignancy in the harboured testes. Inguinal hernia is the commonest mode of presentation of CAIS in childhood and various screening methods are available during the initial herniorrhaphy procedure...
December 30, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/28011219/in-silico-selection-and-cell-based-characterization-of-selective-and-bioactive-compounds-for-androgen-dependent-prostate-cancer-cell
#6
Elisa C Santa Cruz, Adriel R Carecho, Marta E Saidel, Carlos Alberto Montanari, Andrei Leitão
Prostate cancer is one of the most prevalent types of cancer in male population. It is a hormone driven disease, especially in its initial phase. Hence, androgen deprivation therapy (ADT) is the major chemotherapeutic effort and novel AR inhibitors with improved pharmacological profiles are needed. In this report, a novel bioactive compound was selected and investigated using in silico and cell-based assays. Neq0502 compound was selective for the testosterone stimulated AR-dependent prostate cancer cell (LNCaP, GI50=22...
December 11, 2016: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28005277/health-related-quality-of-life-and-psychological-wellbeing-in-adults-with-differences-of-sex-development-dsd
#7
Elena Bennecke, Ute Thyen, Annette Grüters, Anke Lux, Birgit Köhler
OBJECTIVE: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been classified as Differences/ Disorders of Sex Development (DSD). Included in DSD are conditions with diverse genetic aetiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. We sought to investigate the HRQOL and psychological wellbeing in this population...
December 22, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27998513/sexual-orientation-and-medical-history-among-iranian-people-with-complete-androgen-insensitivity-syndrome-and-congenital-adrenal-hyperplasia
#8
Behzad S Khorashad, Ghasem M Roshan, Alistair G Reid, Zahra Aghili, Mehran Hiradfar, Mozhgan Afkhamizadeh, Ali Talaei, Azadeh Aarabi, Nosrat Ghaemi, Negin Taghehchian, Hedieh Saberi, Nazanin Farahi, Mohammad Reza Abbaszadegan
OBJECTIVE: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. METHODS: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents...
January 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27994190/three-novel-and-two-known-androgen-receptor-gene-mutations-associated-with-androgen-insensitivity-syndrome-in-sex-reversed-xy-female-patients
#9
Balachandran Saranya, Gunasekaran Bhavani, Brindha Arumugam, Meena Jayashankar, Sathiyavedu Thyagarajan Santhiya
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...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27939779/comparative-immunomorphology-of-testicular-sertoli-and-sertoliform-tumors
#10
Hector Mesa, Scott Gilles, Milton W Datta, Paari Murugan, Wendy Larson, Susan Dachel, Juan C Manivel
Sertoli cell (SC) and sertoliform tumors of the testis are very uncommon; for this reason their differential diagnosis and classification can be challenging. We applied an extensive immunophenotypic panel that included androgenic hormones, enzymes and receptors, neuroendocrine, lineage and genitourinary markers to a series of these lesions to determine if and which immunostains can aid in their diagnostic workup. Study cases included: 2 androgen insensitivity syndrome associated SC-adenomas, 3 SC tumors not otherwise specified (SCT-NOS), 3 sclerosing-SCT, 2 large cell calcifying-SCT, 1 SCT with heterologous-sarcomatous elements, 1 malignant SCT, and 1 sertoliform rete testis adenoma (sertoliform-RTA)...
December 7, 2016: Human Pathology
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
#11
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
#12
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
#13
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
#14
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...
December 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
#15
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...
January 1, 2017: 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
#16
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
#17
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
#18
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-extracellular-signal-regulated-kinase-erk-docking-sites-in-elk1-protein-to-induce-sustained-gene-activation-that-supports-prostate-cancer-cell-growth
#19
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 versus those required for activation of ELK1 by ERK were systematically mapped using a mammalian two-hybrid system and confirmed using a co-immunoprecipitation assay...
December 9, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27788530/creation-of-a-neovagina-by-laparoscopic-modified-vecchietti-technique-anatomic-and-functional-results
#20
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
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