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Hypospadias

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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/29330019/parental-decisional-regret-and-views-about-optimal-timing-of-female-genital-restoration-surgery-in-congenital-adrenal-hyperplasia
#2
Konrad M Szymanski, Benjamin Whittam, Martin Kaefer, Heather Frady, Jessica T Casey, Vi T Tran, Mark P Cain, Richard C Rink
PURPOSE: The role of female genital restoration surgery (FGRS) in girls with congenital adrenal hyperplasia (CAH) is controversial, with no long-term parent-reported outcomes available. Decisional regret (DR) affects most parents after their children's treatment of pediatric conditions, including hypospadias. We aimed to assess parental DR after FGRS in infancy or toddlerhood and explore optimal timing for surgery. MATERIALS AND METHODS: One-hundred and six parents of females with CAH undergoing FGRS before 3 years old and followed at our institution (1999-2017) were invited to enroll online...
December 28, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29324451/aromatase-deficiency-due-to-a-homozygous-cyp19a1-mutation-in-a-46-xx-egyptian-patient-with-ambiguous-genitalia
#3
Inas Mazen, Ken McElreavey, Aya Elaidy, Alaa K Kamel, Mohamed S Abdel-Hamid
Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative...
January 12, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29323065/emerging-role-of-preputial-vascular-pattern-and-postoperative-microvessel-density-in-cases-of-proximal-hypospadias-a-pilot-study
#4
Vishrut Narang, Amita Sen, Minakshi Bhardwaj
INTRODUCTION: Understanding of anatomical vascular patterns and anatomy of prepuce is critical for a good outcome in hypospadias surgery. A well-vascularized neourethral and preputial flaps used for repair are exceptionally important for a successful outcome, especially in cases of proximal hypospadias undergoing one-stage procedures. OBJECTIVE: To evaluate the vascular anatomy of prepuce in cases of proximal hypospadias and to evaluate microvessel density (MVD) by immunohistochemistry and its correlation with postoperative complications...
October 2017: Indian Journal of Pathology & Microbiology
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
#5
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/29315704/accessory-fold-of-skin-on-the-ventral-surface-of-the-penis-is-it-a-redundant-prepuce
#6
S B Nayak, S U Pai, M G Shenoy, D Reghunathan
Variations in the skin of the prepuce are very rare. We report here a variation of the penile skin as observed in an adult male cadaver aged approximately 65 years. The penis was covered by thin nonhairy skin. The glans was not covered with prepuce. There was no evidence of circumcision. The ventral surface of the penis, adjacent to the glans, had a huge fold of skin. This fold resembled the prepuce and had a hole in it. The glans penis had a normal urethral meatus. There was no evidence of hypospadias as the entire ventral surface of the penis was covered completely by the skin...
January 7, 2018: Andrologia
https://www.readbyqxmd.com/read/29310187/re-worldwide-prevalence-of-hypospadias
#7
Douglas A Canning
No abstract text is available yet for this article.
January 2018: Journal of Urology
https://www.readbyqxmd.com/read/29282594/risk-factors-for-failed-urethrocutaneous-fistula-repair-after-transverse-preputial-island-flap-urethroplasty-in-pediatric-hypospadias
#8
Wenwen Han, Weiping Zhang, Ning Sun
OBJECTIVES: We review our experience in urethrocutaneous fistula (UCF) repair after transverse preputial island flap urethroplasty (Duckett) in pediatric hypospadias to investigate the risk factors for unsuccessful outcome. METHODS: Two hundred and nineteen UCFs repairs conducted in our center from January 2015 to December 2016 after Duckett technique were retrospectively reviewed and 182 had a follow-up for more than 6 months. The age of patients, size, localization and numbers of UCFs, interval time of two operations, length of neourethra, times of UCFs repairs, complications other than UCFs, hospital of primary surgery and postoperative infection were analyzed as potential risk factors...
December 27, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/29278518/identification-of-an-ar-mutation-in-klinefelter-syndrome-during-evaluation-for-penoscrotal-hypospadias
#9
Sezer Acar, Hale Tuhan, Elçin Bora, Korcan Demir, Hüseyin Onay, Derya Erçal, Ece Böber, Ayhan Abacı
Genital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia...
July 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29248308/testosterone-prior-to-hypospadias-repair-no-clear-cut-benefit-or-reassurance-regarding-long-term-safety
#10
Charles Van Praet, Anne-Françoise Spinoit
No abstract text is available yet for this article.
November 27, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29247355/optimisation-of-sonourethrography-the-clamp-method
#11
Juan de Dios Berná-Mestre, Thierry Balmaceda, Diego Martínez, Jose F Escudero, Gloria Martínez, José A García, Manuel Canteras, Juan D Berná-Serna
PURPOSE: To describe the clamp method for performing retrograde sonourethrography (RSUG) and contrast-enhanced voiding sonourethrography (CE-VSUG) via the transperineal approach in male adults. MATERIALS AND METHODS: Prospective study of 113 males (14-86 years) with urethral strictures confirmed by urethrography who received sonourethrography via the clamp method between 2011 and 2015. The characteristic parameters of the quantitative variables were calculated and a comparative analysis of the qualitative variables was conducted using the McNemar test...
December 15, 2017: European Radiology
https://www.readbyqxmd.com/read/29237538/periconception-exposure-to-air-pollution-and-risk-of-congenital-malformations
#12
Sheng Ren, Erin Haynes, Eric Hall, Monir Hossain, Aimin Chen, Louis Muglia, Long Lu, Emily DeFranco
OBJECTIVE: To evaluate the association between increased exposure to airborne fine particulate matter (PM2.5) during the periconception period with risk of congenital anomalies. STUDY DESIGN: Using birth certificate data from the Ohio Department of Health (2006-2010) and PM2.5 data from the US Environmental Protection Agency's 57 monitoring stations located throughout Ohio, the geographic coordinates of the mother's residence for each birth were linked to the nearest PM2...
December 8, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29234536/role-of-urethral-plate-and-fossa-navicularis-biopsies-in-the-detection-of-balanitis-xerotica-obliterans-in-boys-undergoing-redo-hypospadias-repair
#13
Mohamed Sultan, Mohamed El-Shazly, Eid Elsherif, Sheren Younes, Mohamed Selim
Objectives: To evaluate the presence of balanitis xerotica obliterans (BXO), clinically and pathologically, in the urethra of boys with failed previous hypospadias repair and where surgical management was planned. Patients and methods: Between February 2010 and March 2015, boys with failed distal penile hypospadias repair who were planned for surgical management were evaluated for the presence of clinical and pathological evidence of BXO. Samples were obtained from the urethral plate and fossa navicularis, after obtaining informed consent and ethical approval...
December 2017: Arab Journal of Urology
https://www.readbyqxmd.com/read/29234534/comparison-of-interrupted-and-continuous-suture-urethroplasty-in-tubularised-incised-plate-hypospadias-repair-a-prospective-study
#14
Archika Gupta, Rajesh Gupta, Punit Srivastav, Ankush Gupta
Objective: To compare the effect of interrupted- and continuous-suture urethroplasty on complication rates in Snodgrass tubularised incised-plate (TIP) hypospadias repair. Patients and methods: This was a prospective randomised study comprising 100 boys (age range 1-5 years) with primary subcoronal, distal- and mid-penile hypospadias who underwent repair from October 2010 to March 2015 in a tertiary care hospital. Boys with glanular, recurrent, and proximal hypospadias were excluded from the study...
December 2017: Arab Journal of Urology
https://www.readbyqxmd.com/read/29230691/beta-blocker-use-in-pregnancy-and-risk-of-specific-congenital-anomalies-a-european-case-malformed-control-study
#15
Jorieke E H Bergman, L Renée Lutke, Rijk O B Gans, Marie-Claude Addor, Ingeborg Barisic, Clara Cavero-Carbonell, Ester Garne, Miriam Gatt, Kari Klungsoyr, Nathalie Lelong, Catherine Lynch, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna Pierini, Hanitra Randrianaivo, Anke Rissmann, David Tucker, Awi Wiesel, Helen Dolk, Maria Loane, Marian K Bakker
INTRODUCTION: The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy. OBJECTIVE: The objective of this study was to investigate whether first-trimester use of beta-blockers increases the risk of specific congenital anomalies in offspring. METHODS: A population-based case-malformed control study was conducted in 117,122 registrations of congenital anomalies from 17 European Concerted Action on Congenital Anomalies and Twins (EUROCAT) registries participating in EUROmediCAT with data for all or part of the period between 1995 and 2013...
December 11, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/29216522/case-of-urethral-duplication-seen-by-voiding-urosonography
#16
Hanisha Patel, Christopher Watterson, Jeanne S Chow
A 3-month-old premature male infant with imperforate anus and hypospadias underwent contrast-enhanced voiding urosonography (ceVUS) followed by voiding cystourethrography (VCUG). Images from the ceVUS demonstrated a distinct linearity arising dorsally from the posterior urethra that partially opacified with contrast. VCUG confirmed a urethral duplication. To our knowledge, this exceedingly rare anomaly has yet to be reported by ceVUS.
December 1, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/29201519/glans-wings-are-separated-ventrally-by-the-septum-glandis-and-frenulum-penis-mri-documentation-and-surgical-implications
#17
Hüseyin Özbey, Ali Kumbasar
Objective: In the normal human penis, the glans wings are in apposition in the midline ventrally, and are separated by the "septum glandis" and "frenulum" of the prepuce. However, most of the hypospadias repair techniques include dissection of the glans wings and their approximation enclosing the neourethra within the glans. Material and methods: In order to obtain detailed information about the normal anatomy of glans penis, magnetic resonance imaging (MRI) findings of the penis were studied in three adults...
December 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/29198998/surgical-approaches-and-long-term-outcomes-in-adults-with-complex-re-operative-hypospadias-repair
#18
Christopher D Morrison, Davide P Cinà, Christopher M Gonzalez, Matthias D Hofer
PURPOSE: Patients with failed hypospadias repair are a challenging population for both pediatric and reconstructive urologists. In this study, we describe our long-term outcomes and factors associated with complications in repeat hypospadias repairs. MATERIAL AND METHODS: A retrospective review of 32 adult patients with a history of hypospadias repair who required subsequent urethroplasty between 2002 and 2012 was performed. Presenting complaint, past medical and surgical history, demographic data, surgical approach, intraoperative findings, and complications were collected and analyzed...
November 30, 2017: Journal of Urology
https://www.readbyqxmd.com/read/29183799/is-testicular-dysgenesis-syndrome-a-genetic-endocrine-or-environmental-disease-or-an-unexplained-reproductive-disorder
#19
REVIEW
Jian-Sheng Xing, Zhi-Ming Bai
Progressive increases in the incidence of male reproductive disorders inclusive of hypospadias, cryptorchidism, poor semen quality, and testicular germ cell cancer (TGCC) have been observed in recent times. The central hypothesis of this study asserted that these disorders may all collectively signify testicular dysgenesis syndrome (TDS). This review aimed to provide evidence verifying the reality of TDS based on four key aspects: environmental endocrine-disrupting chemicals (EDCs), genetic factors, intrauterine growth disorders and lifestyle factors...
November 25, 2017: Life Sciences
https://www.readbyqxmd.com/read/29183664/distal-urethral-plate-adhesions-new-anatomical-perspective-in-hypospadias
#20
Marcel Drlík, Radim Kočvara, Josef Sedláček, Zdeněk Dítě, Ivana Vítková, Martin Komarc
INTRODUCTION: We found midline epithelial adhesions in the glandar urethral plate in patients with hypospadias. After dissolution, a blind epithelized channel becomes visualized inside of the plate pointing to immature embryonic luminization. In addition it reveals that the epithelized surface of the distal urethral plate is larger than previously considered. OBJECTIVE: To determine the incidence and extent of these new anatomical details of urethral plate in hypospadias patients...
November 17, 2017: Journal of Pediatric Urology
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