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Hypospadia

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https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#1
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28819828/-patio-repair-for-urethrocutaneous-fistulae-results-of-a-multicentre-retrospective-study
#2
REVIEW
J Kranz, O A Brinkmann, B Brinkmann, J Steffens, P Malone
BACKGROUND: Urethrocutaneous (UC) fistulae are common complications after hypospadias surgery and they have been a serious problem for surgeons since the repair was first attempted. We present the results of our multicentre retrospective study for repairing UC fistulae using the Patio ("preserve the tract and turn it inside out") repair described by Malone. MATERIALS AND METHODS: A total of 16 boys (Eschweiler 2, Lingen 4, Reading 10) at the ages of 1-10 years were treated for UC fistulae...
August 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28817617/comparison-of-lingual-mucosa-and-buccal-mucosa-grafts-used-in-inlay-urethroplasty-in-failed-hypospadias-of-pre-pubertal-boys-in-a-chinese-group
#3
Jin Hongyong, Chen Shuzhu, Wu Min, Ye Weijing, Liu Yidong
OBJECTIVE: The purpose of this study was to compare the outcomes of the buccal mucosa and lingual mucosa used in children who received multiple failed hypospadias surgeries. METHOD: We conducted a retrospective study of 62 children who received buccal or lingual mucosa graft urethroplasty in our hospital between 2012 and 2015. The ages ranged from 3.5-11 y. All cases included multiple failed hypospadias procedures, and the subjects received previous operations 2-3 times...
2017: PloS One
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#4
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28789936/buck-s-fascia-repair-with-glanuloplasty-in-hypospadias-surgery-a-simple-approach-with-excellent-outcome
#5
Aejaz Ahsan Baba, Sajad Ahmad Wani, Nisar Ahmad Bhat, Gowhar Nazir Mufti, Tariq Nazir Lone, Shaista Nazir
BACKGROUND: Hypospadias is a common problem encountered in surgical practice and its repair is challenging because of various complications. Urethro-cutaneous fistula is the most common postoperative complication (incidence of 0-33%). Different types of intermediate protective layers have been used in attempts to decrease UCF formation; however, no single surgical technique is ideal. OBJECTIVE: The aim of this study was to compare use of dartos fascia and Buck's fascia as intermediate layers in prevention of the formation of UCF...
July 16, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28782742/laparoscopic-management-of-m%C3%A3-llerian-duct-remnants-in-the-paediatric-age-evidence-and-outcome-analysis
#6
Maja Raicevic, Amulya Kumar Saxena
BACKGROUND: This study performed a literature analysis to determine outcomes of laparoscopic management in Müllerian duct remnants (MDRs). PATIENTS AND METHODS: Literature was searched for terms 'Müllerian' 'duct' 'remnants' and 'laparoscopy'. Primary end points were age at surgery, laparoscopic technique, intraoperative complications and postoperative morbidity. RESULTS: The search revealed 10 articles (2003-2014) and included 23 patients with mean age of 1...
August 1, 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28767453/ultrasonographic-assessment-of-bladder-volumes-in-children-undergoing-penile-surgery-does-the-type-of-anesthesia-matter
#7
Margaret Ekstein, Yuval Bar-Yosef, Jacob Ben-Chaim, Ron Flaishon, Avi A Weinbroum
BACKGROUND: There are scant data reporting postoperative ultrasonographically measured bladder volumes in children undergoing penile surgery. STUDY QUESTION: We studied the effect of various anesthesia techniques on return of micturition after penile surgery in children, using ultrasonographically measured bladder volumes. DATA SOURCES: Ultrasonographically measured postvoiding residual bladder volumes indexed to age-appropriate capacity, and time elapsed between the end of surgery and spontaneous voiding after pediatric circumcision, distal hypospadias repair, or repair of urethrocutaneous fistula, were studied...
July 17, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28760558/stented-or-unstented-distal-hypospadias-repair
#8
Julian Wan
No abstract text is available yet for this article.
July 28, 2017: Urology
https://www.readbyqxmd.com/read/28755966/characteristics-of-idiopathic-urethral-strictures-a-link-to-remote-perineal-trauma
#9
Boyd R Viers, Travis J Pagliara, Charles A Rew, Lauren Folgosa Cooley, Christine Y Shiang, Jeremy M Scott, Allen F Morey
OBJECTIVE: To characterize the physical features and reconstructive outcomes of a series of idiopathic urethral stricture (IUS) cases in an effort to elucidate the nature of this common, yet poorly understood entity. METHODS: We retrospectively reviewed our urethroplasty database to identify men undergoing initial urethral reconstruction from 2007-2014 at one of three hospitals (N=514). Patients were stratified by stricture etiology including IUS, acute trauma, iatrogenic, hypospadias, balanitis xerotica obliterans, and radiation...
July 26, 2017: Urology
https://www.readbyqxmd.com/read/28755466/hypospadias-intrauterine-growth-restriction-and-abnormalities-of-the-placenta
#10
M Hassan Toufaily, Drucilla J Roberts, Marie-Noel Westgate, Anne-Therese Hunt, Lewis B Holmes
BACKGROUND: Hypospadias is more common among male infants with growth restriction, defined as a birth weight less than the 10(th) centile, than in infants with a normal birth weight. Intrauterine growth retardation (IUGR) has been associated, also, with abnormalities of the placenta, such as maternal vascular malperfusion. In a consecutive sample of newborn infants, the association between hypospadias, IUGR and abnormalities of the placenta could be analyzed. METHODS: Affected infants were identified among 289,365 liveborn and stillborn infants in the Active Malformations Surveillance Program between 1972 and 2012...
July 29, 2017: Birth defects research
https://www.readbyqxmd.com/read/28753858/correlation-between-primary-hypospadias-repair-and-subsequent-urethral-strictures-in-a-series-of-408-adult-patients
#11
Guido Barbagli, Nicola Fossati, Alessandro Larcher, Francesco Montorsi, Salvatore Sansalone, Denis Butnaru, Massimo Lazzeri
BACKGROUND: The correlation between primary hypospadias repair and subsequent urethral strictures in adults has never been addressed. OBJECTIVE: To evaluate the correlation between the site of primary hypospadias repair and the site of subsequent strictures and to investigate the predictive factors of failure after urethroplasty. DESIGN, SETTING, AND PARTICIPANTS: An observational, retrospective, descriptive study of adult patients with urethral strictures following hypospadias surgery was carried out in a single centre...
February 21, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28752067/two-stage-urethroplasty-with-buccal-mucosa-for-penoscrotal-hypospadias-reconstruction-in-a-male-with-a-46-xx-karyotype
#12
Pieter D'hulst, Jochen Darras, Steven Joniau, Pieter Mattelaer, Linsey Winne, Diederik Ponette
We present a case regarding a 32-year old African male with penoscrotal hypospadias, left cryptorchidism and a left inguinal hernia. There were moderate masculinization characteristics. He underwent a Lichtenstein hernia repair with perioperative biopsies of the left inguinal testis and epididymis. Microscopic examination showed a Sertoli-only left testis with Leydig-cell hyperplasia and the left epididymis consisted of ovarian tissue with corpora albicantia and maturing follicles. Endocrinological evaluation showed a sex-determining region Y (SRY) negative 46,XX karyotype...
September 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28746933/androgen-regulates-dimorphic-f-actin-assemblies-in-the-genital-organogenesis
#13
Liqing Liu, Kentaro Suzuki, Eunice Chun, Aki Murashima, Yuki Sato, Naomi Nakagata, Toshihiko Fujimori, Shigenobu Yonemura, Wanzhong He, Gen Yamada
Impaired androgen activity induces defective sexual differentiation of the male reproductive tract, including hypospadias, an abnormal formation of the penile urethra. Androgen signaling in the urethral mesenchyme cells (UMCs) plays essential roles in driving dimorphic urethral development. However, cellular events for sexual differentiation remain virtually unknown. In this study, histological analyses, fluorescent staining, and transmission electron microscopy (TEM) were performed to reveal the cellular dimorphisms of UMCs...
July 27, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28742285/variable-expressivity-and-incomplete-penetrance-in-a-large-family-with-non-classical-diamond-blackfan-anemia-associated-with-ribosomal-protein-l11-splicing-variant
#14
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L Wooderchak-Donahue, Rong Mao, John C Carey
Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized by early-onset bone marrow failure often accompanied by congenital malformations, especially thumb defects...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742244/novel-prps1-gain-of-function-mutation-in-a-patient-with-congenital-hyperuricemia-and-facial-anomalies
#15
Joseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, Anne-Karin Kahlert, Jens Schallner, Andreas Rump, Evelin Schröck, Doreen Dobritzsch, Jeroen Roelofsen, André B P van Kuilenburg, Andreas Tzschach
Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28739554/46-xy-disorder-of-sex-development-due-to-17-beta-hydroxysteroid-dehydrogenase-type-3-deficiency-in-an-infant-of-greek-origin
#16
Assimina Galli-Tsinopoulou, Anastasios Serbis, Eleni Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous, Nicos Skordis
17β-hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to a varying degree of undervirilization of the affected male that ranges from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28738760/substitution-urethroplasty-for-anterior-urethral-stricture-repair-comparison-between-lingual-mucosa-graft-and-pedicled-skin-flap
#17
Qiang Fu, Yumeng Zhang, Jiong Zhang, Hong Xie, Ying-Long Sa, Sanbao Jin
OBJECTIVES: The aim of this study was to compare the effectiveness and outcomes of lingual mucosa graft (LMG) urethroplasty versus pedicled skin flap (PSF) urethroplasty in the repair of anterior urethral strictures. MATERIALS AND METHODS: A retrospective study in one urological center examined 293 male patients with anterior urethral strictures who received substitution urethroplasty from 2006 to 2015. Of these, 199 patients received PSF urethroplasty and 94 received LMG urethroplasty...
July 25, 2017: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/28732588/stented-or-unstented-distal-hypospadias-repair
#18
Julian Wan
No abstract text is available yet for this article.
July 18, 2017: Urology
https://www.readbyqxmd.com/read/28713716/urethroplasty-using-a-turnover-flap-for-correct%C3%A4-on-of-problemat%C3%A4-c-urethrocutaneous-f%C3%A4-stula-a-case-report
#19
Husnu Tokgoz, Gulsum Tetik, Soner Yalcinkaya, Ali Yildiz, Murat Savas
Urethral fistula formation after urethroplasty for hypospadias is a frequent complication. Repeated failures can occur even after multiple attempts at repair. A surgical procedure is described for a problematic resistant urethrocutaneous fistula (UF) with the transverse turnover flap using the Buck's fascia of the corpus cavernosum. A 23-year-old male was admitted to our hospital with recurrent coronal UF. We placed a suprapubic catheter in the bladder and operated the patient with the flap technique combined with glanuloplasty...
May 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/28713005/steroid-5-alpha-reductase-type-2-srd5a2-gene-v89l-polymorphism-and-hypospadias-risk-a-meta-analysis
#20
K Zhang, Y Li, Y Mao, M Ma
BACKGROUND: Hypospadias is a common congenital malformation in males, in which the urethral orifice is found on the ventral side of the penis as a result of incomplete fusion of urethral folds. The etiology of hypospadias is poorly understood, and may be multifactorial, including genetic, endocrine and environmental factors. The steroid 5-alpha-reductase type 2 (SRD5A2) gene, which is mainly expressed in the ventral side of the urethra in the process of male genital development, plays an important role in urethral shaping...
June 28, 2017: Journal of Pediatric Urology
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