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genital ambiguity

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
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
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
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
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
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
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
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...
2016: Zootaxa
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
Pattaranatcha Charnwichai, Patra Yeetong, Kanya Suphapeetiporn, Vichit Supornsilchai, Taninee Sahakitrungruang, Vorasuk Shotelersuk
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular characteristics of two Uzbekistan siblings with 11β-OHD and analyze the effects of a splicing mutation. CASE PRESENTATION: A 46,XX girl presented with genital ambiguity and low renin hypertension; her 46,XY brother presented with precocious puberty...
2016: BMC Endocrine Disorders
Rakesh Mondal, Somosri Ray, Kaushani Chatterjee, Tapas Kumar Sabui, Avijit Hazra, Suman Das, Jasodhara Chaudhuri, Archan Sil, Moumita Samanta
OBJECTIVES: To measure Penile length (PL) and Testicular volume (TV) in newborn boys for assessing genital abnormalities. METHODS: In a tertiary care setting, measurements of PL and TV were recorded from 480 babies born on alternate days except the weekend, at 24 to 72 h of life by one investigator with the same set of instruments. The penis was stretched to the point of increased resistance and the distance from the tip of the glans penis to the pubic ramus was measured as the stretched PL...
November 2016: Indian Journal of Pediatrics
Mabel Yau, Ahmed Khattab, Maria I New
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care...
June 2016: Endocrinology and Metabolism Clinics of North America
Mabel Yau, Ahmed Khattab, Dix Poppas, Lucia Ghizzoni, Maria New
Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis. A high rate of genotype-phenotype disconcordance has been found in 21-hydroxylase deficiency. The goal of treatment is to replace with synthetic glucocorticoids and mineralocorticoids and suppress adrenal androgen production...
2016: Frontiers of Hormone Research
Heino F L Meyer-Bahlburg, Jananne Khuri, Jazmin Reyes-Portillo, Maria I New
 To perform a qualitative study of stigma experienced in medical settings by children and adolescents with congenital genital ambiguity (CGA).  METHODS:  62 women with classical congenital adrenal hyperplasia (CAH) of variable severity took part in a qualitative retrospective interview that focused on the impact of CAH and its medical treatment, with an emphasis on childhood and adolescence. Categorization of stigmatization was based on deductive content analysis of the interview transcripts.  RESULTS:  Many women recalled experiencing the genital examinations in childhood and adolescence as adverse, stigmatizing events, leading to avoidance reactions and self-perception as abnormal, particularly when the examinations included groups of trainees...
May 16, 2016: Journal of Pediatric Psychology
Chauhan Vasundhera, Viveka P Jyotsna, Devasenathipathy Kandasamy, Nandita Gupta
BACKGROUND AND OBJECTIVES: 46 XY disorders of sexual development (DSD) cover a wide spectrum of phenotypes ranging from unambiguous female genitalia to ambiguous male genitalia with hypospadias or dysgenetic gonads. Management of these patients depends on the cause of DSD, degree of feminization, age at presentation, and gender orientation. The aim of this study was to evaluate the presentation and management of patients with 46XY DSD at our center. PATIENTS AND METHODS: All new and old patients of 46XY DSD attending the endocrine OPD in a period of 16 months were included in this study...
May 2016: Indian Journal of Endocrinology and Metabolism
Rakesh Mondal, Kaushani Chatterjee, Moumita Samanta, Avijit Hazra, Somosri Ray, Tapas Kumar Sabui, Basanta Banerjee, Suman Das, Dibyendu Roychowdhury, Rupa Biswas
OBJECTIVE: To generate normative data on clitoris length, anogenital distance and anogenital ratio in Indian newborns. DESIGN: Cross-sectional study. SETTING: Neonatal unit of a tertiary care teaching hospital in Kolkata. PARTICIPANTS: 378 female neonates, who were hemo-dynamically stable without critical illness or chromosomal anomaly, and without any vulval hematoma or genital abnormalities. INTERVENTIONS: Measurements were recorded using a digital vernier caliper between 24-72 hours...
April 2016: Indian Pediatrics
Ayşegül Ozantürk, Erica E Davis, Aniko Sabo, Marjan M Weiss, Donna Muzny, Shannon Dugan-Perez, Erik A Sistermans, Richard A Gibbs, Köksal R Özgül, Dilek Yalnızoglu, Esra Serdaroglu, Ali Dursun, Nicholas Katsanis
Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13...
March 2016: Cold Spring Harbor Molecular Case Studies
A Khattab, M Yau, A Qamar, P Gangishetti, A Barhen, S Al-Malki, H Mistry, W Anthony, M B Toralles, Maria I New
Patients with Congenital Adrenal Hyperplasia (CAH) owing to 21-hydroxylase deficiency and whose karyotype is 46, XX are usually assigned to the female gender. Reported herein are the long term outcomes in three patients with CAH whose karyotype is 46, XX and who were reared as males. A retrospective review of three CAH patients with a 46, XX karyotype who were reared as males was conducted. Gender assignment, clinical and biochemical data, pre and post-genitoplasty genital examinations were reviewed. Gender identity was tested by an extensive questionnaire...
April 25, 2016: Journal of Steroid Biochemistry and Molecular Biology
Johanna Viau Colindres, Marni Axelrad, Laurence McCullough, E O'Brian Smith, Gene O Huang, Duong D Tu, Jennifer L Bercaw-Pratt, Min-Jye Cheni, Meenal Mendiratta, Sheila Gunn, Reid Sutton, Charles Macias, Lefkothea P Karaviti
45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. Hence, patients can be assigned female or male sex. Female patients are managed according to the Turner Syndrome Guidelines, whereas males are managed on a case-by-case basis. Male patients present with multiple medical challenges: undervirilization, hypogonadism, gonadoblastoma risk, and short stature...
March 2016: Pediatric Endocrinology Reviews: PER
Asma Deeb, Hana Al Suwaidi, Fakunle Ibukunoluwa, Salima Attia
Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported. Affected individuals have a broad spectrum of presentation ranging from normal female-appearing genitalia, cliteromegaly, microphallus, hypospadias, to completely male-appearing genitalia. We report an extended Emirati family with 11 affected members. The family displayed various phenotypes on presentation leading to different sex of rearing...
June 5, 2016: Journal of Clinical Research in Pediatric Endocrinology
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