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genital ambiguity

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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
#1
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 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 life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29278523/menophila-a-poetic-description-of-genital-ambiguity-in-hellenistic-literature
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
August 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
#18
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
#19
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
#20
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
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