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genital ambiguity

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https://www.readbyqxmd.com/read/29723589/46-xy-denys-drash-syndrome-is-there-a-role-for-nephron-sparing-modalities-in-management-of-renal-masses-a-report-of-two-cases
#1
Amr Hodhod, Mohamed El-Sherbiny
Denys Drash Syndrome (DDS) is a combination of genital and urinary anomalies that mostly associated with renal and gonadal malignancies. We report 2 patients who presented with genital ambiguity and were diagnosed as 46XY DDS. Both patients had renal masses during follow up and underwent partial nephrectomy aiming to have transplant at older age.
April 30, 2018: Urology
https://www.readbyqxmd.com/read/29713857/case-of-successful-ivf-treatment-of-an-oligospermic-male-with-46-xx-46-xy-chimerism
#2
R J Laursen, B Alsbjerg, I Vogel, C H Gravholt, H Elbaek, D L Lildballe, P Humaidan, E M Vestergaard
INTRODUCTION: We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure. METHODS: Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450-550-band resolution and short-tandem-repeat analysis of 14 loci. RESULTS: Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines...
April 30, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29618062/45-x-46-xy-mosaicism-presenting-with-isolated-unilateral-cryptorchidism-and-a-normal-blood-karyotype
#3
Grazia Morandi, Manuela Cerbone, Elisa B Lamback, Eleni Rapti, Mehul T Dattani
Context: 45,X/46,XY mosaicism is a disorder of sex development leading to abnormal gonadal development and to unpredictable genital phenotype, growth and pubertal development. Case Description: A two year old male presented with a right impalpable testis. Blood karyotype was 46,XY. A laparoscopy performed for right orchidopexy revealed a right streak gonad with Mullerian structures, while on the left side a normal descended testis was present. The karyotype of the removed gonad was 45,X/46,XY...
March 30, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29595517/parental-perception-of-terminology-of-disorders-of-sex-development-in-western-turkey-running-head-parental-perception-of-dsd-terminology
#4
Sibel Tiryaki, Ali Tekin, Ismail Yagmur, Samim Özen, Burcu Özbaran, Damla Gökşen, Şükran Darcan, İbrahim Ulman, Ali Avanoğlu
OBJECTIVE: "Disorders of sex development (DSD)" is a nomenclature proposed to defeat the discomfort of families and patients and has found worldwide usage. The aim of this study is addressing the perception and usage of terminology among the parents of DSD patients in a tertiary center in western Turkey. METHODS: The records of the DSD council between years 2008-2015 were reviewed retrospectively and data including details of the management process, patient characteristics and follow-up details were noted...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29538500/-body-phenotypes-in-adolescence-and-sexual-maturation
#5
Jéssica Cumpian-Silva, Ana Elisa Madalena Rinaldi, Camila Medeiros da Silva Mazzeti, Wolney Lisboa Conde
The study aims to describe body phenotypes estimated by multivariate technique for the assessment of nutritional status in adolescence during the process of sexual maturation. The sample consisted of 833 schoolchildren 10 to 15 years of age, selected by complex sampling in Piracicaba, São Paulo State, Brazil. Body phenotypes were defined by principal components analysis (PCA) based on anthropometric data (body mass, height, skinfolds, and waist circumference), body composition (phase angle measurement by bioelectric impedance), biochemical parameters (triglycerides, glucose, total/LDL cholesterol ratio, hemoglobin), and sexual maturation (self-classification of stages of pubic hair and breasts or genitals)...
March 12, 2018: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/29502244/a-rare-case-of-hydrometrocolpos-from-persistent-urogenital-sinus-in-patient-affected-by-adrenogenital-syndrome
#6
REVIEW
Igino Simonetti, Piero Trovato, Francesco Verde, Luca Tarotto, Roberto Della Casa, Maria Concetta Lonardo, Gianfranco Vallone, Maria Grazia Caprio
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both...
March 3, 2018: Journal of Ultrasound
https://www.readbyqxmd.com/read/29366854/grading-of-urothelial-carcinoma-and-the-new-world-health-organisation-classification-of-tumours-of-the-urinary-system-and-male-genital-organs-2016
#7
REVIEW
Eva M Compérat, Maximilian Burger, Paolo Gontero, A Hugh Mostafid, Joan Palou, Morgan Rouprêt, Bas W G van Rhijn, Shahrokh F Shariat, Richard J Sylvester, Richard Zigeuner, Marko Babjuk
CONTEXT: In the management of urothelial carcinoma, determination of the pathological grade aims at stratifying tumours into different prognostic groups to allow evaluation of treatment results, and optimise patient management. This article reviews the principles behind different grading systems for urothelial bladder carcinoma discussing their reproducibility and prognostic value. OBJECTIVE: This paper aims to show the evolution of the World Health Organisation (WHO) grading system, discussing their reproducibility and prognostic value, and evaluating which classification system best predicts disease recurrence and progression...
January 20, 2018: European Urology Focus
https://www.readbyqxmd.com/read/29316814/biology-of-the-adrenal-gland-cortex-obviates-effective-use-of-adeno-associated-virus-vectors-to-treat-hereditary-adrenal-disorders
#8
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse L Jose, Jonathan B Rosenberg, Philip L Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000 to 1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of lifelong oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a lifelong therapeutic intervention is not ideal for quality of life...
March 20, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29278523/menophila-a-poetic-description-of-genital-ambiguity-in-hellenistic-literature
#9
Anastasia K Armeni, Danai Georgopoulou, Georgios K Markantes, Konstantina Barouti, Leonidas Liarakos, Vasiliki Vasileiou, Neoklis A Georgopoulos
No abstract text is available yet for this article.
July 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29239188/-evaluation-of-inflammatory-cells-tumor-infiltrating-lymphocytes-in-solid-tumors
#10
P Dundr, K Němejcová, M Bártů, R Matěj, Z Rohan, I Tichá
BACKGROUND: The tumor microenvironment plays an important role in tumorigenesis and the tumor-host relationship. An important part of the tumor microenvironment is inflammatory infiltration. Its evaluation in solid tumors has prognostic meaning and appears also to be predictive of outcome, which is particularly important for predicting responses to immune checkpoint inhibitors. However, the methodology used to assess inflammatory infiltration is problematic, because it has been standardized only for certain types of tumors...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/29176024/how-often-are-clinicians-performing-genital-exams-in-children-with-disorders-of-sex-development
#11
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/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#12
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28917585/total-urogenital-sinus-mobilization-for-ambiguous-genitalia
#13
Vinicius Menezes Jesus, Francisco Buriti, Rodrigo Lessa, Maria Betânia Toralles, Luciana Barros Oliveira, Ubirajara Barroso
INTRODUCTION: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus...
August 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28742519/45-x-46-xy-ovotesticular-disorder-of-sex-development-revisited-undifferentiated-gonadal-tissue-may-be-mistaken-as-ovarian-tissue
#14
Juliana Gabriel Ribeiro de Andrade, Liliana Aparecida Lucci De Angelo Andrade, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
BACKGROUND: The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity. CASE PRESENTATION: Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28717365/behavioural-problems-in-children-with-46xy-disorders-of-sex-development
#15
Nalini M Selveindran, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, Rahmah Rasat
The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was matched for age and gender. The study tool used was the Child Behaviour Checklist (CBCL), which is a parent-administered questionnaire...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28639595/prenatal-diagnosis-of-steroid-21-hydroxylase-deficient-congenital-adrenal-hyperplasia-experience-from-a-tertiary-care-centre-in-india
#16
Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28630018/the-modified-ulaanbaatar-procedure-reduced-complications-and-enhanced-cosmetic-outcome-for-the-most-severe-cases-of-hypospadias
#17
V R Jayanthi, C B Ching, D G DaJusta, D J McLeod, S A Alpert
INTRODUCTION/OBJECTIVE: Proximal hypospadias is one of the most challenging conditions that pediatric urologists have to deal with. Many procedures have been devised over the years, but nothing has been proven to be the best option. Although there have been some attempts at correcting severe hypospadias in one procedure, most have advocated a staged approach. The classic approach - laying penile skin or a graft within a split glans followed by glanuloplasty at the second stage - by definition requires two operations on the glans...
August 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28609925/-i-epirrita-i-i-pulchraria-i-taylor-1907-transferred-to-i-malacodea-i-with-notes-on-the-phylogeny-and-ecology-of-the-tribe-operophterini-lepidoptera-geometridae-larentiinae
#18
Andro Truuverk, Erki Õunap, Toomas Tammaru
The Nearctic Epirrita pulchraria (Taylor, 1907) was revealed as a sister taxon of the Palaearctic Malacodea regelaria Tengström,1869 in a molecular phylogenetic analysis of the tribe Operophterini. DNA sequence variation in one mitochondrial (COI) and eight nuclear (28S, EF-1α, WGL, GAPDH, RPS5, IDH, MDH, CAD) gene fragments was used in the analysis. Bayesian inference resulted in a well-resolved phylogenetic hypothesis. According to the recovered phylogeny a new combination is proposed: Rachela pulchraria Taylor, 1907 is transferred from Epirrita Hübner, 1808 to Malacodea Tengström, 1869 as Malacodea pulchraria (Taylor, 1907) comb...
April 27, 2017: Zootaxa
https://www.readbyqxmd.com/read/28535943/pragmatic-approach-to-intersex-including-genital-ambiguity-in-the-newborn
#19
Kanthi Bangalore Krishna, Christopher P Houk, Peter A Lee
The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination...
June 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28498049/the-paradox-of-recognition-hijra-third-gender-and-sexual-rights-in-bangladesh
#20
Adnan Hossain
Hijra, the iconic figure of South Asian gender and sexual difference, comprise a publicly institutionalised subculture of male-bodied feminine-identified people. Although they have existed as a culturally recognised third gender for a very long time, it is only recently that hijra have been legally recognised as a third gender in several South Asian countries. This paper focuses on the transformation of this long-running cultural category of third gender into a legal category of third gender in Bangladesh, showing that the process of legal recognition has necessitated a simultaneous mobilisation of a discourse of disability in the constitution of hijra as citizens worthy of rights...
May 12, 2017: Culture, Health & Sexuality
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