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https://www.readbyqxmd.com/read/27899157/disorders-of-sex-development-insights-from-targeted-gene-sequencing-of-a-large-international-patient-cohort
#1
Stefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke Lambeth, Aurore Bouty, Ingrid M Knarston, Tiong Yang Tan, Fergus Cameron, George Werther, John Hutson, Michele O'Connell, Sonia R Grover, Yves Heloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F Hunter, Shubha Srinivasan, Angela Titmuss, Charles F Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M Leong, Makato Ono, Antony R Lafferty, Tony Huynh, Uma Visser, Catherine S Choong, Fiona McKenzie, Nicholas Pachter, Elizabeth M Thompson, Jennifer Couper, Anne Baxendale, Jozef Gecz, Benjamin J Wheeler, Craig Jefferies, Karen MacKenzie, Paul Hofman, Philippa Carter, Richard I King, Csilla Krausz, Conny M A van Ravenswaaij-Arts, Leendert Looijenga, Sten Drop, Stefan Riedl, Martine Cools, Angelika Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem Chi, Tran Kiem Hao, Vincent Harley, Peter Koopman, Garry Warne, Sultana Faradz, Alicia Oshlack, Katie L Ayers, Andrew H Sinclair
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD)...
November 29, 2016: Genome Biology
https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#2
Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27898418/rapid-molecular-genetic-diagnosis-with-next-generation-sequencing-in-46-xy-disorders-of-sex-development-cases-efficiency-and-cost-assessment
#3
Samim Özen, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Özkınay, Damla Gökşen, Şükran Darcan
BACKGROUND/AIM: The aim of this study was to use targeted next-generation sequencing (TNGS) including all known genes associated with 46,XY disorders of sex development (DSD) for a fast molecular genetic diagnosis. METHODS: Twenty pediatric patients were recruited, and 56 genes related to 46,XY DSD were sequenced using TNGS. The time elapsed between initial appointment and final diagnosis as well as the mean expenditure was determined. RESULTS: A total of 9 (45%) mutations in 4 different genes were identified...
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27896958/when-should-we-not-transfer-functional-annotation-between-sequence-paralogs
#4
Mengfei Cao, Lenore J Cowen
Current automated computational methods to assign functional labels to unstudied genes often involve transferring annotation from orthologous or paralogous genes, however such genes can evolve divergent functions, making such transfer inappropriate. We consider the problem of determining when it is correct to make such an assignment between paralogs. We construct a benchmark dataset of two types of similar paralogous pairs of genes in the well-studied model organism S. cerevisiae: one set of pairs where single deletion mutants have very similar phenotypes (implying similar functions), and another set of pairs where single deletion mutants have very divergent phenotypes (implying different functions)...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27887913/prospective-assessment-of-cosmesis-before-and-after-genital-surgery
#5
N J Nokoff, B Palmer, A J Mullins, C E Aston, P Austin, L Baskin, K Bernabé, Y-M Chan, E Y Cheng, D A Diamond, A Fried, D Frimberger, D Galan, L Gonzalez, S Greenfield, T Kolon, B Kropp, Y Lakshmanan, S Meyer, T Meyer, L L Mullins, A Paradis, D Poppas, P Reddy, M Schulte, K J Scott Reyes, J M Swartz, C Wolfe-Christensen, E Yerkes, A B Wisniewski
INTRODUCTION: Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. OBJECTIVE: The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery...
October 8, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27876298/commentary-to-gonadal-dysgenesis-in-disorders-of-sex-development-dsd-diagnosis-and-surgical-management
#6
David A Diamond
No abstract text is available yet for this article.
November 4, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27871307/current-models-of-care-for-disorders-of-sex-development-results-from-an-international-survey-of-specialist-centres
#7
Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S Faisal Ahmed
BACKGROUND: To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014. RESULTS: A total of 78 (63 %) clinicians, in 75 centres, from 38 countries responded to the survey. A formal national network for managing DSD was reported to exist in 12 (32 %) countries...
November 21, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27867855/laparoscopic-approach-for-gonadectomy-in-pediatric-patients-with-intersex-disorders
#8
REVIEW
Andres Calvo, Maria Escolino, Alessandro Settimi, Agnese Roberti, Maria Grazia Caprio, Ciro Esposito
The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques and in understanding psychosocial issues related to this condition. However, since these kinds of disorders are rare and have many anatomical variations, individual care is necessary, especially regarding surgical management. Gonadectomy is indicated in a number of intersex disorders with a Y chromosome to reduce the associated risk of cancer...
October 2016: Translational pediatrics
https://www.readbyqxmd.com/read/27862437/mechanism-of-the-copper-tempo-catalyzed-aerobic-oxidation-of-alcohols
#9
Mark A Iron, Alex Martin Szpilman
Identifying the mechanism of a catalytic reaction is paramount for designing new and improved catalysts. Several alternative catalytic cycles for the copper-TEMPO catalyzed aerobic oxidation of alcohols to the corresponding aldehydes or ketones were examined in their entirety using density functional theory at the SMD(CH3CN)-RIJCOSX-DSD-PBEB95/def2-TZVP//DF-PBED3BJ/def2-SVP level of theory. A novel catalytic cycle in which TEMPO remains complexed to copper throughout, was identified as the most likely mechanism...
November 9, 2016: Chemistry: a European Journal
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
#10
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/27858857/primary-amenorrhea-after-bone-marrow-transplantation-and-adjuvant-chemotherapy-misdiagnosed-as-disorder-of-sex-development-a-case-report
#11
He Huang, Qinjie Tian
INTRODUCTION: Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. We report the case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype misdiagnosed as Y-chromosome-related DSD...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27856173/fertility-in-disorders-of-sex-development-a-review
#12
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/27855412/a-46-xx-ovotesticular-disorder-of-sex-development-likely-caused-by-a-steroidogenic-factor-1-nr5a1-variant
#13
Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, Benjamin Weaver, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn
BACKGROUND: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. METHODS: Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. RESULTS: Exome results identified a heterozygous NR5A1 variant, p...
November 18, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27849622/novel-mutations-of-the-srd5a2-and-ar-genes-in-thai-patients-with-46-xy-disorders-of-sex-development
#14
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/27823735/long-term-health-issues-related-to-disorders-or-differences-in-sex-development-intersex
#15
REVIEW
Jennifer M Beale, Sarah M Creighton
DSD (Disorders or Differences in Sex Development) and Intersex are terms used to describe a diverse group of congenital conditions where the development of the reproductive system is different from what is usually expected. These conditions usually present at birth or adolescence and the health implications are wide ranging and often life-long. Given the complexity of many of the conditions, health care input when required should be provided by a multidisciplinary team who have appropriate expertise. Holistic care should include the consideration of the risk of cancer, prevention of osteoporosis, advice on hormones, sexual health and fertility options, and ongoing support in order to optimise quality of life and wellbeing...
December 2016: Maturitas
https://www.readbyqxmd.com/read/27814383/adult-gli2-gli3%C3%AE-699-male-and-female-mice-display-a-spectrum-of-genital-malformation
#16
Fei He, Pedram Akbari, Rong Mo, Jennifer J Zhang, Chi-Chung Hui, Peter C Kim, Walid A Farhat
Disorders of sexual development (DSD) encompass a broad spectrum of urogenital malformations and are amongst the most common congenital birth defects. Although key genetic factors such as the hedgehog (Hh) family have been identified, a unifying postnatally viable model displaying the spectrum of male and female urogenital malformations has not yet been reported. Since human cases are diagnosed and treated at various stages postnatally, equivalent mouse models enabling analysis at similar stages are of significant interest...
2016: PloS One
https://www.readbyqxmd.com/read/27801941/non-coding-variation-in-disorders-of-sex-development
#17
REVIEW
Dorien Baetens, Bérénice B Mendonça, Hannah Verdin, Martine Cools, Elfride De Baere
Genetic studies in Disorders of Sex Development (DSD), representing a wide spectrum of developmental or functional conditions of the gonad, have mainly been oriented towards the coding genome. Application of genomic technologies, such as whole exome sequencing, result in a molecular genetic diagnosis in ~50% of cases with DSD. Many of the genes mutated in DSD encode transcription factors such as SRY, SOX9, NR5A1, and FOXL2, characterized by a strictly regulated spatiotemporal expression. Hence, it can be hypothesized that at least part of the missing genetic variation in DSD can be explained by non-coding mutations in regulatory elements that alter gene expression, either by reduced, mis- or overexpression of their target genes...
November 1, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27798415/recent-findings-on-the-genetics-of-disorders-of-sex-development
#18
Jessica Kremen, Yee-Ming Chan, Jonathan M Swartz
PURPOSE OF REVIEW: Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation, or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel genetic sequencing technologies, new phenotypes associated with known DSD genes, and increasing recognition of the role of genetic regulatory elements in DSD. RECENT FINDINGS: We performed a comprehensive search of PubMed through August 2016 to identify important peer-reviewed publications from 2015 to 2016 on the topic of DSD genetics...
January 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/27796800/is-pes-cavus-alignment-associated-with-lisfranc-injuries-of-the-foot
#19
Jeremy D Podolnick, Daniel S Donovan, Nicholas DeBellis, Alejandro Pino
BACKGROUND: Lisfranc (tarsometatarsal joint) injuries are relatively rare, accounting for less than 1% of all fractures, and as many as 20% of subtle Lisfranc injuries are missed at the initial patient presentation. An undiagnosed Lisfranc injury can have devastating consequences to the patient. Therefore, any factor that can raise a clinician's index of suspicion to make this diagnosis is potentially important. The cavus foot has been associated with various maladies of the lower extremity, but to our knowledge, it has not been reported to be associated with Lisfranc injury...
October 28, 2016: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27785439/malignancy-in-disorders-of-sex-development
#20
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
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