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renal agenesis

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https://www.readbyqxmd.com/read/27905212/multicystic-seminal-vesicle-with-ipsilateral-renal-agenesis-two-cases-of-zinner-syndrome
#1
Pablo Naval-Baudin, Elena Carreño García, Ana Sanchez Marquez, Joana Valcárcel José, Natalia M Romero
The association of ipsilateral renal agenesis and cystic seminal vesicle is a rare congenital syndrome described by Zinner in 1914. The cases of two patients with this syndrome are presented, one of them associated with infertility, the other with cryptorchidism and testicular pain. A brief review of the literature is undertaken, regarding the main clinical and imaging implications, and the developmental anomalies that are involved in this unusual congenital anomaly are analyzed.
December 1, 2016: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#2
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few antenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27794475/constitutional-560-49%C3%A2-kb-chromosome-2p24-3-duplication-including-the-mycn-gene-identified-by-snp-chromosome-microarray-analysis-in-a-child-with-multiple-congenital-anomalies-and-bilateral-wilms-tumor
#3
Mark A Micale, Bedford Embrey, Jacqueline K Macknis, Cheryl E Harper, David J Aughton
Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated segment, but generally include psychomotor delay, facial anomalies, congenital heart defect, and other abnormalities. We report a 560.49 kb duplication of chromosome 2p in a 13 month-old male with hydrocephaly, ventricular septal defect, partial agenesis of the corpus callosum, and bilateral Wilms tumor. After discovery of bilateral renal masses at four months of age, the child underwent neoadjuvant chemotherapy followed by right radical nephrectomy that revealed triphasic Wilms' tumor...
December 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27734512/prenatal-compensatory-renal-growth-in-unilateral-renal-agenesis
#4
Sharon Perlman, Dani Lotan, Benjamin Dekel, Zvi Kivilevitch, Yinon Hazan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To create nomograms of fetal renal compensatory growth in cases of unilateral renal agenesis (URA). METHODS: A retrospective study of fetuses with isolated URA diagnosed prenatally, and confirmed postnatal was performed. RESULTS: Seventy-four fetuses with isolated solitary kidney were included in the study. A total of 134 measurements of the kidney's length were performed. Ninety five of them were studied longitudinally (2-6 measurements each)...
November 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27733230/endometrial-carcinoma-arising-in-didelphic-uterus-accompanied-by-right-renal-agenesis-a-case-report
#5
Zhi-Qiang Wang, Zhi-Gang Wang, Pan Li, Hong-Bing Cai
No abstract text is available yet for this article.
September 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/27717313/heterozygous-p-s811f-ret-gene-mutation-associated-with-renal-agenesis-oligomeganephronia-and-total-colonic-aganglionosis-a-case-report
#6
Keisuke Sugimoto, Tomoki Miyazawa, Hitomi Nishi, Kohei Miyazaki, Takuji Enya, Mitsuru Okada, Tsukasa Takemura
BACKGROUND: Several shared common gene networks participate in development of interstinal ganglia and also nephron formation; the glial cell line-derived neurotrophic factor/Ret/glial cell line-derived neurotrophic factor receptor gene network is particularly important. CASE PRESENTATION: We encountered a patient with total colonic aganglionosis as well as right renal agenesis and oligomeganephronia. Gene analysis in this patient disclosed a heterozygous p.S811F mutation was in Ret gene exon 14, resulting in a substitution of phenylalanine for serine...
October 7, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27716927/genetics-of-mayer-rokitansky-k%C3%A3-ster-hauser-mrkh-syndrome
#7
Laura Fontana, Barbara Gentilin, Luigi Fedele, Cristina Gervasini, Monica Miozzo
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico-thoracic defects...
October 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27697459/hematospermia-as-a-rare-form-of-presentation-of-zinner-syndrome
#8
Nelson Canales-Casco, Alejandro Dominguez-Amillo, Miguel Angel Arrabal-Polo, Francisco Javier Sanchez-Tamayo, Miguel Arrabal-Martin, Jose Manuel Cozar-Olmo
A 17-year-old male was referred to the Urology department for hematospermia after initiation of sexual relationship. An MRI scan showed giant dilation of a multi-cystic left seminal vesicle with left renal agenesis. These findings are typical of the Zinner syndrome. In 70-80% of the cases when renal agenesis is found, there is an ipsilateral cystic dilation of the seminal vesicle that in some cases may be associated with testicular ectopia or absence of the bladder trigone. The ejaculatory ducts, which are formed from the mesonephric system, are abnormally developed in this cases...
September 30, 2016: Urology
https://www.readbyqxmd.com/read/27695215/coexisting-urogenital-anomaly-and-duodenal-atresia-in-two-atypical-holt-oram-syndrome
#9
Tuncer Ahmet Ali, Karavelioğlu Afra, Baskin Embleton Didem, Elmas Muhsin
Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.
October 2016: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/27693935/distribution-of-female-genital-tract-anomalies-in-two-classifications
#10
Pentti K Heinonen
OBJECTIVE: This study assessed the distribution of Müllerian duct anomalies in two verified classifications of female genital tract malformations, and the presence of associated renal defects. STUDY DESIGN: 621 women with confirmed female genital tract anomalies were retrospectively grouped under the European (ESHRE/ESGE) and the American (AFS) classification. The diagnosis of uterine malformation was based on findings in hysterosalpingography, two-dimensional ultrasonography, endoscopies, laparotomy, cesarean section and magnetic resonance imaging in 97...
September 20, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27672439/zinner-s-syndrome-report-of-two-cases-and-review-of-the-literature
#11
Amine Slaoui, Souhail Regragui, Abdelouahad Lasri, Tarik Karmouni, Khalid El Khader, Abdellatif Koutani, Ahmed Ibn Attya
BACKGROUND: Congenital malformations of the seminal vesicle are uncommon, and most of them are cystic malformations. If an insult occurs between the 4th and the 13 h gestational week, the embryogenesis of the kidney, ureter, seminal vesicle, and vas deferens could be altered. Cysts of the seminal vesicle may appear with a mass effect, dysuria, epididymitis, or obstruction of the gastrointestinal and genitourinary tracts. Approximately two thirds of them are associated with ipsilateral renal agenesis, because both the ureteral buds and seminal vesicles originate from the mesonephric (Wolffian) duct...
2016: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/27597925/a-case-of-cryptorchidism-with-ipsilateral-congenital-unilateral-absence-of-the-vas-deferens-and-contralateral-renal-agenesis
#12
Young Dong Yu, Young Kwon Hong
Introduction and Aims. Congenital absence of the vas deferens is an uncommon anomaly and this clinical condition is responsible for up to 1-2% of male infertility. It can be either unilateral or bilateral and the associated anomalies include cryptorchidism, seminal vesicles and ejaculatory ducts anomalies, and renal anomalies such as renal agenesis. We hereby present a case of congenital unilateral absence of vas deferens, which was found incidentally during an evaluation of undescended testis in a patient with ipsilateral renal agenesis...
2016: Case Reports in Urology
https://www.readbyqxmd.com/read/27579422/endourologic-intervention-for-management-of-infertility-in-a-man-with-zinner-syndrome-resulting-in-a-natural-pregnancy
#13
Ismaeel Aghaways, Shyaw M Ahmed
BACKGROUND: Ipsilateral renal agenesis associated with seminal vesicular cysts is an uncommon finding. Zinner syndrome is a rare variant of wolffian duct anomalies with a triad of seminal vesicle cyst, ipsilateral renal agenesis, and male fertility problems due to ejaculatory duct obstruction (EDO). CASE PRESENTATION: A 28-year-old man with 6 years history of primary infertility presented with left-side lower abdominal pain. A palpable cystic mass was found on digital rectal examination...
2016: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/27564299/retrocaval-ureter-and-contra-lateral-renal-agenesis-a-case-report-and-review-of-literature
#14
Felix Cardoza, C K Shambhulinga, A T Rajeevan
Associated congenital anomalies are seen in 21% of retrocaval ureter patients; among them, associated contralateral renal agenesis is a very rare entity. We report one such case of right circumcaval ureter with left renal agenesis, diagnosed after febrile UTI. Surgical correction with uretero-ureterostomy was successful. In literature very few such cases are reported and only one case with renal failure was reported. Unilateral renal agenesis cases complicated by associated such anomalies need definitive management and lifelong clinical monitoring to diagnose and prevent chronic kidney disease...
July 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27555476/a-case-of-distal-vaginal-agenesis-presenting-with-recurrent-urinary-tract-infection-and-pyuria-in-a-prepubertal-girl
#15
Ozlem Dural, Funda Gungor Ugurlucan, Cenk Yasa, Ercan Bastu, Hulya Eren, Bahar Yuksel, Serdal Celik, Suleyman Engin Akhan
BACKGROUND: Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl. CASE: An 11-year-old prepubertal girl presented with recurrent urinary tract infection, pyuria, and right-sided renal agenesis. The findings of perineal inspection, ultrasonography, and magnetic resonance imaging were consistent with a distal vaginal agenesis with pyometrocolpos. Discharging pyometrocolpos with dissection of the atretic portion and a pull-through vaginoplasty were performed...
August 20, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27507534/diagnostic-imaging-and-cataloguing-of-female-genital-malformations
#16
REVIEW
Pedro Acién, Maribel Acién
UNLABELLED: To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryological system to catalogue female genito-urinary malformations may ultimately be more useful in correlations with clinical presentations and in helping with the appropriate diagnosis and treatment...
October 2016: Insights Into Imaging
https://www.readbyqxmd.com/read/27506089/complex-malformations-of-the-urogenital-tract-in-a-female-dog-gartner-duct-cyst-ipsilateral-renal-agenesis-and-ipsilateral-hydrometra
#17
Atsushi Fujita, Masaya Tsuboi, Kazuyuki Uchida, Ryohei Nishimura
A 10-month-old female toy poodle was referred to the University of Tokyo Veterinary Medical Center with a urogenital anomaly found during sterilization. An exploratory laparotomy revealed a cyst adhering to the cervix and a unilateral renal agenesis. Histopathology and immunohistochemical analysis of the cyst was consistent with remnants of the Wolffian duct or a Gartner duct cyst. This is a rare case of a canine Gartner duct cyst with renal agenesis and uterine anomaly. We discuss the similarity of this case to that of humans and introduce a classification in the literature for these complex urogenital malformations for further clinical research into the precise diagnosis and appropriate surgical planning...
May 2016: Japanese Journal of Veterinary Research
https://www.readbyqxmd.com/read/27499637/congenital-anomalies-of-the-genitourinary-system-can-help-in-diagnosis-of-the-primary-site-of-metastatic-cancer-a-case-report-and-a-review-of-the-literature
#18
Andrzej Deptala, Agnieszka Romanowicz, Aleksandra Czerw, Jerzy Walecki, Wojciech Rogowski, Anna Nasierowska-Guttmejer
OBJECTIVE: To analyze whether the presence of congenital anomalies of the genitourinary system that are accompanied by specific types of cancer and predispose patients to many complications, including infection, obstruction, stasis, calculus formation, and impaired renal function, could help in the diagnosis of the primary site of a metastatic tumor. CASE PRESENTATION: We report a case of a 58-year-old man with metastatic adenocarcinoma, in whom congenital anomalies of the genitourinary system proved helpful for the diagnosis of the primary site of cancer originating in the seminal vesicles...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27488005/cystic-fibrosis-transmembrane-conductance-regulator-cftr-gene-abnormalities-in-indian-males-with-congenital-bilateral-absence-of-vas-deferens-renal-anomalies
#19
Rahul Gajbhiye, Kaushiki Kadam, Aalok Khole, Avinash Gaikwad, Seema Kadam, Rupin Shah, Rangaswamy Kumaraswamy, Vrinda Khole
BACKGROUND & OBJECTIVES: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. METHODS: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA...
May 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27486275/types-and-outcome-of-fetal-urinary-anomalies-in-low-resource-setting-countries-a-retrospective-study
#20
Hend Shalaby, Reda Hemida, Hanan Nabil, Mohammad Ibrahim
BACKGROUND: Congenital anomalies of the kidney and urinary tract in the developing countries have a poor prognosis due to limited experience in antenatal and postnatal management. PATIENTS AND METHODS: A 3-year retrospective study was carried out from January 2011 to December 2013. The following data were collected and analyzed: maternal age, gravidity, parity, gestational age at diagnosis, and ultrasonography findings. Final diagnosis after birth, the performed surgeries, follow-up data, as well as survival at one year were also analyzed...
October 2016: Journal of Obstetrics and Gynaecology of India
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