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https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#1
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29330774/a-collection-of-xy-female-cell-lines
#2
Fumio Kasai, Malcolm A Ferguson-Smith
Discordance between sexual phenotype and the 46,XY sex chromosome complement may be found in certain disorders of sexual development (DSD). Many of these DSD patients with female external genitalia and secondary sex characteristics have undescended testes and male internal genitalia. Causative mutations involving genes of the sex determining pathway, including the androgen receptor, SRY and the 5-alpha-reductase genes, are well-known, but the origin of other cases remain unresolved. In this report, we introduce our collection of lymphoblastoid lines derived from female patients with a 46,XY karyotype...
January 12, 2018: Human Cell
https://www.readbyqxmd.com/read/29320783/wt1-gene-mutation-p-r462w-in-a-46-xy-dsd-patient-from-egypt-with-gonadoblastoma-and-review-of-the-literature
#3
Inas Mazen, Heba Hassan, Alaa Kamel, Mona Mekkawy, Ken McElreavey, Mona Essawi
WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. However, in this study we report an Egyptian patient with a novel phenotype carrying the p.R462W mutation. We also review the heterogeneity of phenotypes of previously reported patients with the p...
January 11, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29317724/rfx1-and-rfx3-transcription-factors-interact-with-the-d-sequence-of-adeno-associated-virus-inverted-terminal-repeat-and-regulate-aav-transduction
#4
Laura Julien, Julie Chassagne, Cécile Peccate, Stéphanie Lorain, France Piétri-Rouxel, Olivier Danos, Sofia Benkhelifa-Ziyyat
Adeno-associated virus (AAV) transduction efficiency depends on the way in which cellular proteins process viral genomes in the nucleus. In this study, we have investigated the binding of nuclear proteins to the double stranded D (dsD) sequence of the AAV inverted terminal repeat (ITRs) by electromobility shift assay. We present here several lines of evidence that transcription factors belonging to the RFX protein family bind specifically and selectively to AAV2 and AAV1 dsD sequences. Using supershift experiments, we characterize complexes containing RFX1 homodimers and RFX1/RFX3 heterodimers...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29306929/comparison-between-two-inhibin-b-elisa-assays-in-46-xy-testicular-disorders-of-sex-development-dsd-with-normal-testosterone-secretion
#5
Guilherme Guaragna-Filho, Antônio Ramos Calixto, Georgette Beatriz De Paula, Laurione Cândido De Oliveira, André Moreno Morcillo, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
BACKGROUND: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion. METHODS: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29305568/novel-compound-heterozygous-variants-in-the-lhcgr-gene-identified-in-a-subject-with-leydig-cell-hypoplasia-type-1
#6
Yufei Xu, Yulin Chen, Niu Li, Xuyun Hu, Guoqiang Li, Yu Ding, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1. CASE PRESENTATION: Clinical data were collected from the subject and analyzed...
January 6, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29295880/evaluation-of-ajcc-and-an-alternative-tumor-classification-system-for-primary-vulvar-squamous-cell-carcinoma
#7
Sarah T Le, Pritesh S Karia, Beverley J Vollenhoven, Robert J Besaw, Colleen M Feltmate, Chrysalyne D Schmults
Background: Currently, no studies have attempted to validate the AJCC tumor (T) class for vulvar cancer or examine its performance via clinical data. The goal of this study was to identify risk factors associated with poor outcomes in vulvar squamous cell carcinoma (vSCC) and compare prognostic discrimination of these outcomes between the AJCC T-classification system and the newly developed Brigham and Women's Vulvar Tumor Classification system (BWVTC). Methods: A 15-year, 2-center retrospective cohort study of primary vSCCs (N=226) was undertaken...
January 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29280745/sex-assignment-in-conditions-affecting-sex-development
#8
Renata Markosyan, S Faisal Ahmed
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of sex development (DSD), the natural history of conditions, as well as the short and long-term complications of these conditions themselves, together with the clinical interventions that are associated with these conditions. With this information, the DSD expert can be more confident when discussing options with the parents of the newborn infant...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29262419/a-novel-homozygous-missense-mutation-in-the-fu-crd2-domain-of-the-r-spondin1-gene-associated-with-familial-46-xx-dsd
#9
Yassine Naasse, Amina Bakhchane, Hicham Charoute, Farida Jennane, Joelle Bignon-Topalovic, Abderrahim Malki, Anu Bashamboo, Abdelhamid Barakat, Hassan Rouba, Ken McElreavey
R-spondin proteins are secreted agonists of canonical WNT/β-catenin signaling. Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma. We report exome sequencing data of two 46,XX siblings, one with testicular DSD and the other with suspected ovotesticular DSD. Both have PPK and hearing impairment and carried a novel homozygous mutation c.332G>A (p.Cys111Tyr) located in the highly conserved furin-like cysteine-rich domain-2 (FU-CRD2)...
December 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29261835/comparison-of-tumor-classifications-for-cutaneous-squamous-cell-carcinoma-of-the-head-and-neck-in-the-7th-vs-8th-edition-of-the-ajcc-cancer-staging-manual
#10
Pritesh S Karia, Frederick C Morgan, Joseph A Califano, Chrysalyne D Schmults
Importance: Previous studies have shown that the AJCC Cancer Staging Manual, 7th edition (AJCC 7), tumor classification for cutaneous squamous cell carcinoma (CSCC) failed to accurately stratify disease-related outcomes. The recently released 8th edition (AJCC 8) features a revised tumor classification for only head and neck CSCC (HNCSCC). Objective: To compare AJCC 7 and AJCC 8 tumor classifications for HNCSCC and to validate AJCC 8. Design, Setting, and Participants: This was a 10-year retrospective cohort study (2000-2009) at an academic tertiary care center reviewing 680 primary HNCSCC tumors in 459 patients...
December 20, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29261182/biallelic-and-monoallelic-esr2-variants-associated-with-46-xy-disorders-of-sex-development
#11
Dorien Baetens, Tülay Güran, Berenice B Mendonca, Nathalia L Gomes, Lode De Cauwer, Frank Peelman, Hannah Verdin, Marnik Vuylsteke, Malaïka Van der Linden, Hans Stoop, Leendert H Looijenga, Karolien De Bosscher, Martine Cools, Elfride De Baere
PurposeDisorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.MethodsHomozygosity mapping and whole-exome sequencing revealed an ESR2 variant in an individual with syndromic 46,XY DSD. Additional cases with 46,XY DSD underwent whole-exome sequencing and targeted next-generation sequencing of ESR2. Functional characterization of the identified variants included luciferase assays and protein structure analysis...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29248763/surgical-treatment-of-osteoporotic-degenerative-spinal-deformity-with-expandable-pedicle-screw-fixation-2-year-follow-up-clinical-study
#12
J Fu, Z M Yao, Z Wang, G Cui, M Ni, X Li, J Y Chen
BACKGROUND: Osteoporotic bone offers poor purchase for the instrumentation in patients with degenerative spinal deformity (DSD), which could lead to several complications. Recently, augmentation methods to improve pedicle screw fixation have been proposed. This retrospective study was to investigate the clinical and radiographic outcomes of expandable pedicle screws (EPS) in patients with osteoporotic DSD. HYPOTHESIS: Expandable pedicle screws (EPS) provide excellent instrument fixation in patients with osteoporotic DSD, improving radiographic and clinical outcomes...
December 14, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29220612/coexistence-of-trisomy-13-and-sry-xx-ovotesticular-disorder-of-sex-development
#13
Gizem Ürel Demir, Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Safak Gucer, Mehmet Alikaşifoğlu
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD...
December 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29201068/gender-identity-in-patients-with-congenital-adrenal-hyperplasia
#14
Maryam Razzaghy-Azar, Sakineh Karimi, Elham Shirazi
Background: Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. Objectives: The study aimed to assess gender identity in patients with CAH. Methods: In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29195553/impact-of-a-monolithic-silicon-detector-operating-in-transmission-mode-on-clinical-photon-beams
#15
Kananan Utitsarn, Ziyad A Alrowaili, Nauljan Stansook, Marco Petasecca, Martin Carolan, Vladimir L Perevertaylo, Michael Lerch, Anatoly Rosenfeld
PURPOSE: To investigate the effect on surface dose, as a function of different field sizes and distances from the solid water phantom to transmission detector (Dsd), of using the monolithic silicon detector MP512T in transmission mode. METHODS: The influence of operating the MP512T in transmission mode on the surface dose of a phantom for SSD 100cm was evaluated by using a Markus IC. The MP512T was fixed to an adjustable stand holder and was positioned at different Dsd, ranging from 0...
November 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/29176024/how-often-are-clinicians-performing-genital-exams-in-children-with-disorders-of-sex-development
#16
Stefani S Tica, Erica A Eugster
BACKGROUND: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic. METHODS: Medical records of children with DSD and AG seen at one large academic center since 2007 were reviewed. Data analyzed included diagnosis, sex of rearing, age, initial or follow up visit, number of individuals present and sex of the pediatric endocrinologist...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29165629/morbidity-mortality-and-socioeconomics-in-females-with-46-xy-disorders-of-sex-development-a-nationwide-study
#17
Agnethe Berglund, Trine H Johannsen, Kirstine Stochholm, Mette H Viuff, Jens Fedder, Katharina M Main, Claus H Gravholt
Context: Little is known about long-term health outcomes in phenotypic females with 46,XY disorders of sex development (XY females) and the socioeconomic profile is not described in detail. Objective: To describe morbidity, mortality and socioeconomic status in XY females in a comparison to the general population. Design: A nationwide registry study with complete follow-up. Setting: A uniform public health care system...
November 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29157626/risk-association-of-congenital-anomalies-in-patients-with-ambiguous-genitalia-a-22-year-single-center-experience
#18
Jennifer M Heeley, Abby S Hollander, Paul F Austin, Diane F Merritt, Victoria G Wesevich, Ina E Amarillo
BACKGROUND: Ambiguous genitalia refers to a form of differences of sex development (DSD) wherein the appearance of the external genitalia is atypical. This rare condition presents challenges in decision-making and clinical management. Review of historical data may reveal areas for clinical research to improve care for patients with ambiguous genitalia. OBJECTIVE: This chart review was performed to identify patients with ambiguous genitalia, and to classify them as having 46,XX DSD, 46,XY DSD, or sex chromosome DSD...
November 17, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#19
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29149458/hormone-therapy-and-patients-satisfaction-with-treatment-in-a-large-cohort-of-diverse-disorders-of-sex-development-dsd
#20
Anna Nordenström, Robert Röhle, Ute Thyen, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Nicole Reisch, Hedi Claahsen van der Grinten, Aude Brac de la Perriere, Peggy T Cohen-Kettenis, Birgit Köhler
OBJECTIVES: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD), and the patients own views on their treatment. DESIGN: Multicentre cross-sectional clinical evaluation, dsd-LIFE in six European countries from 02/2014 to 09/2015. PARTICIPANTS: 1040 adolescents and adults (≥16 years) with different DSD conditions. MAIN OUTCOMES MEASURES: Hormone replacement, information received and patient satisfaction...
November 17, 2017: Clinical Endocrinology
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