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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/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#2
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
https://www.readbyqxmd.com/read/27898354/vasitis-mimicking-an-amyand-s-hernia-a-case-report
#3
Juan Manuel Romero Marcos, Santiago Baena Bradaschia, José María Muñoz Pérez, José Andrés Cifuentes Ródenas
INTRODUCTION: Amyand's hernia is an inguinal hernia containing the caecal appendix. It is usually an intraoperative finding, although it can be diagnosed preoperatively with radiologic examinations, which would show a tubular structure inside the inguinal canal. PRESENTATION OF CASE: A male patient presented to the emergency department complaining of abdominal pain in the right lower quadrant. He had been orchidectomized during his childhood due to cryptorchidism, and had been under antibiotic treatment a week before due to a suspected gonorrhoea...
November 22, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27894106/prader-willi-syndrome-due-to-an-unbalanced-de-novo-translocation-t-15-19-q12-p13-3
#4
Vy Dang, Abhilasha Surampalli, Ann M Manzardo, Stephanie Youn, Merlin G Butler, June-Anne Gold, Virginia E Kimonis
Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age...
November 29, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27887017/massive-seminoma-presenting-with-inguinal-lymph-node-metastases-only
#5
Benjamin C Norton, Ian Robertson, Hui Fan, Rula Najim, Yaman Altal, Ann Sandison, David Hrouda
Seminomatous germ cell tumours characteristically affect men in their second-to-fourth decades, presenting as a testicular mass. Metastases when present are usually seen in para-aortic lymph nodes. These tumours are difficult to diagnose clinically and histologically when the presentation is unusual. We describe a seminoma presenting in a 61-year-old male as an inguinal mass with associated lymphadenopathy resembling lymphoma. Past medical history included ipsilateral cryptorchidism and orchidopexy. The tumour responded well to conventional chemotherapy...
November 24, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27878339/multifocal-tenosynovial-giant-cell-tumors-in-a-child-with-noonan-syndrome
#6
Arthur B Meyers, Agboola O Awomolo, Sara Szabo
Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis...
November 23, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27867845/current-management-of-non-palpable-testes-a-literature-review-and-clinical-results
#7
REVIEW
Ximena Sepúlveda, Pedro-José López Egaña
Cryptorchidism is a common pathology that occurs in 3% in full term newborns, and it decreases to 0.8-1.2% at 1 year of age. Nearly a 20% of undescended testes are non-palpable. Various surgical treatments have been described, but its management is still controversial. A literature review was made of non-palpable testes, analysing diagnostic tools, treatment and its results. Additionally we reviewed non-palpable testes cases treated in our centre in the last 20 years. Different techniques are described for the management of non-palpable testes; with or without section of the spermatic vessels and/or in 1 or 2 stages...
October 2016: Translational pediatrics
https://www.readbyqxmd.com/read/27864361/causes-of-male-infertility-a-9-year-prospective-monocentre-study-on-1737-patients-with-reduced-total-sperm-counts
#8
M Punab, O Poolamets, P Paju, V Vihljajev, K Pomm, R Ladva, P Korrovits, M Laan
STUDY QUESTION: What are the primary causes of severe male factor infertility? SUMMARY ANSWER: Although 40% of all patients showed primary causes of infertility, which could be subdivided into three groups based on the severity of their effect, ~75% of oligozoospermia cases remained idiopathic. WHAT IS KNOWN ALREADY: There are few large-scale epidemiological studies analyzing the causes of male factor infertility. STUDY DESIGN, SIZE, DURATION: A prospective clinical-epidemiological study was conducted at the Andrology Centre, Tartu University Hospital between 2005 and 2013, recruiting male partners of couples failing to conceive a child for over ≥12 months...
November 17, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27852690/maternal-use-of-mild-analgesics-during-pregnancy-associated-with-reduced-anogenital-distance-in-sons-a-cohort-study-of-1027-mother-child-pairs
#9
Dorte Vesterholm Lind, Katharina M Main, Henriette Boye Kyhl, David Møbjerg Kristensen, Jorma Toppari, Helle Raun Andersen, Marianne Skovsager Andersen, Niels E Skakkebæk, Tina Kold Jensen
STUDY QUESTION: Is maternal use of mild analgesics in pregnancy associated with anogenital distance (AGD)-the distance from the anus to the genitals-in the offspring? SUMMARY ANSWER: Maternal use of mild analgesics [especially simultaneous use of paracetamol and nonsteroidal anti-inflammatory drugs (NSAIDs)] during pregnancy was associated with a shorter AGD in boys whereas no effect was found in girls. WHAT IS KNOWN ALREADY: Mild analgesics including paracetamol (acetaminophen) and NSAIDs (e...
November 16, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#10
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27832304/the-challenging-sonographic-inguinal-canal-evaluation-in-neonates-and-children-an-update-of-differential-diagnoses
#11
Yoshino T Sameshima, Maurício G I Yamanari, Mariana A Silva, Miguel J Francisco Neto, Marcelo B G Funari
Bulging of the inguinal region is a frequent complaint in the pediatric population and sonographic findings can be challenging for radiologists. In this review we update the sonographic findings of the most common disorders that affect the inguinal canal in neonates and children, with a focus on the processus vaginalis abnormalities such as congenital hydroceles, indirect inguinal hernias and cryptorchidism, illustrated with cases collected at a quaternary hospital during a 7-year period. We emphasize the importance of correctly classifying different types of congenital hydrocele and inguinal hernia to allow for early surgical intervention when necessary...
November 10, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27818033/does-varicocelectomy-improve-semen-analysis-outcomes-in-adolescents-without-testicular-asymmetry
#12
David I Chu, Stephen A Zderic, Aseem R Shukla, Arun K Srinivasan, Gregory E Tasian, Dana A Weiss, Christopher J Long, Douglas A Canning, Thomas F Kolon
PURPOSE: The main indications for adolescent varicocelectomy are testicular hypotrophy or pain. However, we have previously shown that both serial total testicular volume and volume differential are weakly associated with semen quality. The ultimate patient goal is paternity, but semen analysis is critical to appropriate management of varicocele. We hypothesize that varicocelectomy improves total motile count (TMC) among patients who only have abnormal semen analysis (SA) parameters, but not among those with potential hormonal dysfunction such as Klinefelter syndrome or cryptorchidism...
October 26, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27815047/the-natural-history-of-semen-parameters-in-untreated-asymptomatic-adolescent-varicocele-patients-a-retrospective-cohort-study
#13
David I Chu, Stephen A Zderic, Aseem R Shukla, Arun K Srinivasan, Gregory E Tasian, Dana A Weiss, Christopher J Long, Douglas A Canning, Thomas F Kolon
INTRODUCTION: Adolescent males with varicoceles present a dilemma for surveillance and treatment. Testicular volumetrics have not been shown to predict SA outcomes. Serial SAs are thus recommended in asymptomatic adolescent males with varicoceles and normal testicular development, but the natural history of semen parameters is unknown. OBJECTIVE: To explore the natural history of semen parameters in adolescent boys with a left varicocele under active surveillance...
October 24, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27814383/adult-gli2-gli3%C3%AE-699-male-and-female-mice-display-a-spectrum-of-genital-malformation
#14
Fei He, Pedram Akbari, Rong Mo, Jennifer J Zhang, Chi-Chung Hui, Peter C Kim, Walid A Farhat
Disorders of sexual development (DSD) encompass a broad spectrum of urogenital malformations and are amongst the most common congenital birth defects. Although key genetic factors such as the hedgehog (Hh) family have been identified, a unifying postnatally viable model displaying the spectrum of male and female urogenital malformations has not yet been reported. Since human cases are diagnosed and treated at various stages postnatally, equivalent mouse models enabling analysis at similar stages are of significant interest...
2016: PloS One
https://www.readbyqxmd.com/read/27806792/-analysis-of-clinical-features-and-related-genes-variation-in-five-patients-with-46-xx-male-syndrome
#15
X Y Qin, W K Dong, W Wang, Z Y Dong, Y Xiao, W L Lu, D F Wang
Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27806367/feasibility-and-efficacy-of-a-urologic-profession-campaign-on-cryptorchidism-using-internet-and-social-media
#16
Hendrik Borgmann, Sabine Kliesch, Stephan Roth, Mael Roth, Stephan Degener
INTRODUCTION: We performed a professional campaign in Germany intending to establish the urologic profession as a competent and helpful point of contact for patients with cryptorchidism. The aim of this study was to assess the feasibility of this campaign and to quantify the efficacy of using Internet vs. social media. MATERIALS AND METHODS: The strategic design of the campaign comprised a strategy meeting, creation of a landing page, and targeted advertisements on Google in the form of Adwords and on Facebook in the form of sidebar ads and sponsored posts...
November 3, 2016: Urologia Internationalis
https://www.readbyqxmd.com/read/27805351/a-rare-association-of-obesity-diabetes-mellitus-and-bilateral-cryptorchidism-prader-willi-syndrome
#17
Sridhar Subbiah, Rakesh Chinnathurai, Jeyaraman Sangumani, S Somasundaram
Prader-Willi syndrome is a genomic imprinting disorder, characterized by obesity, hyperphagia, mental retardation, short stature and hypogonadism. The presenting signs and symptoms depend upon the age at which the patient is seen. Here we report a case of Prader-Willi syndrome, who presented at 16 years of age with diabetes mellitus and cryptorchidism.
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27800162/gonadal-response-after-a-single-dose-stimulation-test-with-recombinant-human-chorionic-gonadotropin-rhcg-in-patients-with-isolated-prepubertal-cryptorchidism
#18
Leticia Ribeiro Oliveira, Thais Kataoka Homma, Renata Reis Woloszynek, Vinícius Nahime Brito, Carlos Alberto Longui
BACKGROUND: The evaluation of prepubertal gonadal Leydig cells secretion requires gonadotropin stimulation. Urinary hCG (human chorionic gonadotropin) is currently unavailable in many countries, however, recombinant hCG (rhCG) can be used. Our aim was to evaluate rhCG-stimulated testicular hormones in a group of patients with cryptorchidism. METHODS: We evaluated 31 prepubertal boys (age range, 0.75-9.0 years) presenting with unilateral (n = 24) or bilateral (n = 7) cryptorchidism...
2016: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#19
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27793385/clinical-genetic-biochemical-and-testicular-biopsy-findings-among-1-213-men-evaluated-for-infertility
#20
Inge Ahlmann Olesen, Anna-Maria Andersson, Lise Aksglaede, Niels Erik Skakkebaek, Ewa Rajpert-de Meyts, Niels Joergensen, Anders Juul
OBJECTIVE: To study the pathologic findings among men evaluated for infertility. DESIGN: A retrospective, single-center, cross-sectional study. SETTING: University hospital-based research center. PARTICIPANT(S): We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009. INTERVENTIONS(S): None. MAIN OUTCOME MEASURE(S): Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones...
October 25, 2016: Fertility and Sterility
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