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https://www.readbyqxmd.com/read/28535943/pragmatic-approach-to-intersex-including-genital-ambiguity-in-the-newborn
#1
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...
May 20, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28498049/the-paradox-of-recognition-hijra-third-gender-and-sexual-rights-in-bangladesh
#2
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
https://www.readbyqxmd.com/read/28483799/female-to-male-sex-reversal-associated-with-unique-xp21-2-deletion-disrupting-genomic-regulatory-architecture-of-the-dosage-sensitive-sex-reversal-region
#3
Pankaj Dangle, María Sol Touzon, Miguel Reyes-Múgica, Selma F Witchel, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko
BACKGROUND: The XX male disorder of sex development (DSD) is a rare condition that is most commonly associated with the presence of the SRY gene on one of the X chromosomes due to unequal crossing-over between sex chromosomes during spermatogenesis. However, in about 20% of the XX male individuals, SRY is missing, although these persons have at least some testis differentiation. The genetic basis of genital ambiguity and the mechanisms triggering testis development in such patients remain unknown...
May 8, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28331810/juvenile-granulosa-cell-tumor-of-the-testicle-report-of-a-neonatal-case-with-positive-alpha-fetoprotein-immunohistochemical-staining
#4
Melissa Dundas, Mark Horowitz, Richard Sidlow
We report on a case of juvenile granulosa cell tumor of the testicle in a neonate, a rare testicular tumor in children. No genital ambiguity, anatomic abnormalities, nor sex chromosome aneuploidy was noted in this patient. In our case, despite positive staining for alpha-fetoprotein which is most consistent with yolk sac tumors, all clinical, gross anatomic, histologic, and other immunohistologic characteristics of the tumor remained consistent with the diagnosis of juvenile granulosa cell tumor. The alpha-fetoprotein positivity of the tumor remains unexplained...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28253506/the-effect-of-the-testis-on-the-ovary-structure-function-relationships-in-a-neonate-with-a-unilateral-ovotestis-ovotesticular-disorder-of-sex-development-%C3%A2
#5
Siri Atma W Greeley, Elizabeth Littlejohn, Aliya N Husain, Darrel Waggoner, Mohan Gundeti, Robert L Rosenfield
AIMS: To evaluate gonadal function in a newborn with suspected ovotesticular disorder of sex development (DSD). METHODS: Gonadal function was evaluated at baseline and after gonadotropin-releasing hormone agonist (GnRHag) stimulation testing. RESULTS: A full-term 46,XX neonate with genital ambiguity produced serum testosterone and anti-Müllerian hormone (AMH) levels appropriate for males within days, while serum estradiol remained prepubertal, both spontaneously and in response to GnRHag stimulation testing...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28161392/-recommendations-for-the-diagnosis-and-treatment-of-classic-forms-of-21-hydroxylase-deficient-congenital-adrenal-hyperplasia
#6
Amparo Rodríguez, Begoña Ezquieta, José Igancio Labarta, María Clemente, Rafael Espino, Amaia Rodriguez, Aranzazu Escribano
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy...
February 1, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28149309/deferring-surgical-treatment-of-ambiguous-genitalia-into-adolescence-in-girls-with-21-hydroxylase-deficiency-a-feasibility-study
#7
Pierre Bougnères, Claire Bouvattier, Maryse Cartigny, Lina Michala
BACKGROUND: Genital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence. METHODS: We followed up girls with 21 hydroxylase deficiency (21- OHD) in genital morphology during childhood and acceptability among patients and parents of such an approach...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28081536/wt1-haploinsufficiency-supports-milder-renal-manifestation-in-two-patients-with-denys-drash-syndrome
#8
Mara S Guaragna, Juliana G Ribeiro de Andrade, Bárbara de Freitas Carli, Vera M S Belangero, Andréa T Maciel-Guerra, Gil Guerra-Júnior, Maricilda P de Mello
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28018429/408-cases-of-genital-ambiguity-followed-by-single-multidisciplinary-team-during-23-years-etiologic-diagnosis-and-sex-of-rearing
#9
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28004108/potential-role-of-bcl2-in-the-recurrence-of-uterine-smooth-muscle-tumors-of-uncertain-malignant-potential
#10
Donatella Conconi, Valentina Chiappa, Patrizia Perego, Serena Redaelli, Giorgio Bovo, Marialuisa Lavitrano, Rodolfo Milani, Leda Dalprà, Andrea Alberto Lissoni
Uterine smooth muscle tumors are the most common female genital tract neoplasms. While leiomyosarcoma has been studied at length, smooth muscle tumors of uncertain malignant potential (STUMPs) still have ambiguous and unresolved issues, with a risk of relapse and evolution largely undefined. We performed an array comparative genomic hybridization analysis on a primitive STUMP and its local recurrence, histologically diagnosed as undifferentiated sarcoma. To the best of our knowledge, our report is the first genomic study on primitive STUMPs and the different relapsed tumors...
January 2017: Oncology Reports
https://www.readbyqxmd.com/read/27965122/assembling-a-functional-clitoris-and-vulva-from-a-pseudo-penis-a-surgical-technique-for-an-adult-woman-with-congenital-adrenal-hyperplasia
#11
Wiebren A A Tjalma
BACKGROUND: Congenital adrenal hyperplasia (CAH) is associated with a genital deformation that might cause a negative body image. The genital ambiguity is generally "corrected" surgically during early infancy. The advantage is a psychological benefit. The disadvantages are multiple surgical procedures and the loss of orgasm. CASE: A 22-year-old woman with CAH consulted for genital reconstructive surgery. She had a pseudopenis of 4 cm and could achieve an orgasm by masturbating...
December 10, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#12
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/27887913/prospective-assessment-of-cosmesis-before-and-after-genital-surgery
#13
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...
February 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27857458/magnetic-resonance-neurographic-confirmation-of-extensive-plexiform-neurofibroma-in-neurofibromatosis-1-presenting-as-ambiguous-genitalia
#14
Ishan Kumar, Ashish Verma, Ritu Ojha, Priyanka Aggarwal, Ram C Shukla, Arvind Srivastava
Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromegaly since birth, in which magnetic resonance imaging (MRI) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions. We emphasize the central role of MRI in evaluation of hormonal and non-hormonal causes of ambiguous genitalia...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27821748/spatiotemporal-dynamics-of-androgen-signaling-underlie-sexual-differentiation-and-congenital-malformations-of-the-urethra-and-vagina
#15
Christine E Larkins, Ana B Enriquez, Martin J Cohn
Disorders of sex development (DSDs) are congenital anomalies that affect sexual differentiation of genitourinary organs and secondary sex characters. A common cause of female genital virilization is congenital adrenal hyperplasia (CAH), in which excess androgen production during development of 46XX females can result in vaginal atresia, masculinization of the urethra, a single urogenital sinus, and clitoral hypertrophy or ambiguous external genitalia. Development of the vagina depends on sexual differentiation of the urogenital sinus ridge, an epithelial thickening that forms where the sex ducts attach to the anterior urethra...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27574507/visual-sexual-stimuli-cue-or-reward-a-perspective-for-interpreting-brain-imaging-findings-on-human-sexual-behaviors
#16
Mateusz Gola, Małgorzata Wordecha, Artur Marchewka, Guillaume Sescousse
There is an increasing number of neuroimaging studies using visual sexual stimuli (VSS), especially within the emerging field of research on compulsive sexual behaviors (CSB). A central question in this field is whether behaviors such as excessive pornography consumption share common brain mechanisms with widely studied substance and behavioral addictions. Depending on how VSS are conceptualized, different predictions can be formulated within the frameworks of Reinforcement Learning or Incentive Salience Theory, where a crucial distinction is made between conditioned and unconditioned stimuli (related to reward anticipation vs...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27522318/male-and-female-aphallia-associated-with-severe-urinary-tract-dysplasia
#17
Ariella A Friedman, Paul F Zelkovic, Edward F Reda, Israel Franco, Lane S Palmer
INTRODUCTION: Aphallia is exceedingly rare (1/30 million births). Previous reports have provided limited detail on associated urinary tract findings. OBJECTIVE: We reviewed urinary tract anomalies in two boys with aphallia (patients 1 and 2) and a girl with urinary tract dysplasia, a similar external appearance and lack of corporal tissue (patient 3), also consistent with aphallia. CASE REPORTS (FIGURE): Patients 1 and 2 both had a 46XY karyotype, bilateral descended testes in well-formed scrotums, and posterior skin tags containing rudimentary urethras...
August 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27500688/maternal-uniparental-disomy-for-chromosome-6-in-a-patient-with-iugr-ambiguous-genitalia-and-persistent-mullerian-structures
#18
Joanna Lazier, Nicole Martin, James Dimitrios Stavropoulos, David Chitayat
Maternal uniparental disomy of chromosome 6 [upd(6)mat] is rare and has only been previously reported 13 times with the main associated phenotype being IUGR. We present a case of a male patient with isodisomy upd(6)mat resulting in severe IUGR and ambiguous genitalia, a phenotype not previously described in association with this chromosome finding. The patient initially presented prenatally with IUGR at 19 weeks gestation with placental dysfunction and ambiguous genitalia noted at 27 weeks. Postnatally, the patient had external genital abnormalities, the gonads were in the inguinal canal and there was a rudimentary appearing vagina and uterus...
August 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27395897/first-report-of-the-land-planarian-diversibipalium-multilineatum-makino-shirasawa-1983-platyhelminthes-tricladida-continenticola-in-europe
#19
Giuseppe Mazza, Mattia Menchetti, Ronald Sluys, Eduard Solà, Marta Riutort, Elena Tricarico, Jean-Lou Justine, Luca Cavigioli, Emiliano Mori
Introduction of alien species may significantly affect soil ecosystems, through predation or disruption of components of native ecosystems (Winsor et al. 2004; Álvarez-Presas et al. 2014; Justine et al. 2014). Land planarians have been reported as alien species in soils throughout the world and, among those, some species are considered to be successful invaders, e.g. Platydemus manokwari de Beauchamp, 1963, Arthurdendyus triangulatus (Dendy, 1894), Bipalium adventitium Hyman, 1943, Bipalium kewense Moseley, 1878 and Dolichoplana striata Moseley, 1877 (Winsor et al...
January 26, 2016: Zootaxa
https://www.readbyqxmd.com/read/27378492/new-developments-in-prenatal-diagnosis-of-congenital-adrenal-hyperplasia
#20
Diya Kazmi, Jack Bailey, Maggie Yau, Wahid Abu-Amer, Ameet Kumar, Merly Low, Tony Yuen
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Females affected with classical CAH are at risk for genital ambiguity, but can be treated in utero with dexamethasone before 9 gestational weeks to prevent virilization. Early genetic diagnosis is unavailable through current invasive methods of chorionic villus sampling and amniocentesis. New developments in prenatal genetic testing utilize fetal DNA extracted from maternal blood through noninvasive methods, which allow the determination of fetal gender and the diagnosis of CAH at an early gestational age (<9 weeks)...
July 1, 2016: Journal of Steroid Biochemistry and Molecular Biology
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