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https://www.readbyqxmd.com/read/28080187/early-life-risk-factors-for-testicular-cancer-a-case-cohort-study-based-on-the-copenhagen-school-health-records-register
#1
Johanne Spanggaard Piltoft, Signe Benzon Larsen, Susanne Oksbjerg Dalton, Christoffer Johansen, Jennifer L Baker, Luise Cederkvist, Ingelise Andersen
PURPOSE: One established risk factors for testicular cancer is cryptorchidism. However, it remains unclear whether cryptorchidism is a risk factor in itself or whether the two conditions share common causes in early life (estrogen hypothesis), such as birth weight and birth order. The objective of this study is to utilize data from the Copenhagen School Health Records Register (CSHRR) to evaluate cryptorchidism, birth weight and birth order as risk factors for testicular cancer. METHODS: The study population consisted of 408 cases of testicular cancer identified by a government issued identification number linkage of the entire CSHRR with the Danish Cancer Registry and a random subsample of 4819 males from the CSHRR...
January 12, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28078225/testicular-compartment-syndrome-an-overview-of-pathophysiology-etiology-evaluation-and-management
#2
REVIEW
Jason Gandhi, Gautam Dagur, Yefim R Sheynkin, Noel L Smith, Sardar Ali Khan
Testicular compartment syndrome (TCS) refers to the impairment of microcirculation in the testicle due to either increased venous resistance or extraluminal compression, which leads to hypoxia. TCS releases oxidants through hypoxia and ischemia/reperfusion injury (IRI). The pathophysiology, etiology, evaluation, and management of TCS are reviewed. Based on the properties of TCS, specific causes, e.g., varicocele, hydrocele, orchitis, cryptorchidism, and scrotal hernia, are suggested and categorized. The oxidant-induced stress from TCS may explain the correlations between these causes and infertility...
December 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28070708/delayed-treatment-of-undescended-testes-may-promote-hypogonadism-and-infertility
#3
Julia Rohayem, Alessandra Luberto, Eberhard Nieschlag, Michael Zitzmann, Sabine Kliesch
CONTEXT: Undescended testes at birth may be caused by testosterone deficiency during fetal development. It is unclear whether the process of failed descent contributes to permanent endocrine impairment. OBJECTIVES: To evaluate the impact of age at treatment of undescended testes on endocrine and spermatogenic testicular function in middle-aged men. PATIENTS AND METHODS: Reproductive hormone and semen data of 357 men with previously undescended testes were evaluated with respect to age at correction of testicular position and compared to those of 709 controls with eutopic testes at birth and normozoospermia...
January 9, 2017: Endocrine
https://www.readbyqxmd.com/read/28064312/-polymorphisms-of-kitlg-spry4-and-bak1-genes-in-patients-with-testicular-germ-cell-tumors-and-individuals-with-infertility-associated-with-azfc-deletion-of-the-y-chromosome
#4
M V Nemtsova, E V Ivkin, O A Simonova, V V Rudenko, V B Chernykh, D S Mikhaylenko, O B Loran
Testicular cancer is the most common form of solid cancer in young men. Testicular cancer is represented by testicular germ cell tumors (TGCTs) derived from embryonic stem cells with different degrees of differentiation in about 95% of cases. The development of these tumors is related to the formation of a pool of male germ cells and gametogenesis. Clinical factors that are predisposed to the development of germ-cell tumors include cryptorchidism and testicular microlithiasis, as well as infertility associated with the gr/gr deletion within the AZFс locus...
November 2016: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28061524/prevalence-of-small-testicular-hyperechogenic-foci-in-subgroups-of-382-non-vasectomized-azoospermic-men-a-retrospective-cohort-study
#5
J Fedder
Testicular hyperechogenic foci (THF) are associated with Klinefelter's syndrome, cryptorchidism, infertility, and testicular germ cell neoplasia. The aims of the study were to evaluate THF in relation to etiology of azoospermia and to Sertoli cell dysfunction. The structures inside the scrotum of consecutive non-vasectomized, azoospermic were examined by ultrasonography, and hormone (FSH, LH, testosterone, and prolactin), and genetic analyses (karyotype, Y microdeletions, and CFTR mutations) were performed...
January 6, 2017: Andrology
https://www.readbyqxmd.com/read/28053620/establishment-of-a-surgically-induced-cryptorchidism-canine-recipient-model-for-spermatogonial-stem-cell-transplantation
#6
Won-Young Lee, Ran Lee, Hyuk Song, Tai-Young Hur, Seunghoon Lee, Jiyun Ahn, Hyunjhung Jhun
Transplantation of spermatogonial stem cells (SSCs) in experimental animal models has been used to study germ line stem cell biology and to produce transgenic animals. The species-specific recipient model preparation is important for the characterization of SSCs and the production of offspring. Here, we investigated the effects of surgically induced cryptorchidism in dog as a new recipient model for spermatogonial stem cell transplantation. Artificially unilateral or bilateral cryptorchidism was induced in ten mature male dogs by surgically returning the testis and epididymis to the abdominal cavity...
December 2016: Laboratory Animal Research
https://www.readbyqxmd.com/read/27988046/-the-validity-of-the-spanish-minimum-basic-data-set-to-identify-congenital-anomalies-in-the-valencian-community-spain
#7
Clara Cavero-Carbonell, Silvia Gimeno-Martos, Óscar Zurriaga, María José Rabanaque-Hernández, Carmen Martos-Jiménez
OBJECTIVE: To assess the validity of the Spanish Minimum Basic Data Set (MBDS) for identifying major congenital anomalies in the Valencian Community. METHODS: A retrospective epidemiological study was carried out. Children under the age of one year, born in 2007 and residing in the Valencian Community with congenital anomalies code 740-759 CIE9-MC, were selected from the MBDS, in addition to a random sample of children under the age of 1 year without these discharge codes...
December 14, 2016: Gaceta Sanitaria
https://www.readbyqxmd.com/read/27966762/case-report-low-level-trisomy-14-mosaicism-in-a-male-newborn-with-ectrodactyly
#8
M A Rodrigues, L F Morgade, L F A Dias, R V Moreira, P D Maia, A F H Sales, P D Ribeiro
Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35...
December 2, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27956069/cryptorchidism-and-pesticides-is-there-a-connection
#9
Ivana Fratrić, Jan Varga, Saša Vukmirović, Jan Suđi, Dragana Živković
INTRODUCTION: The aim of our study was to compare the level of the most common organophosphate metabolite, dimethyl phosphate, in urine of women giving birth to both boys with cryptorchidism (study group), and healthy boys (control group), as well as to compare the level of dimethyl phosphate in our population with the results obtained in other populations. MATERIAL AND METHODS: After the ethical approval we included thirty women in both study and control groups...
December 7, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27941186/mixed-gonadal-dysgenesis-with-an-unusual-inverted-y-chromosome
#10
Deepa Makhija, Hemanshi Shah, Charu Tiwari, Shalika Jayaswal, Jayesh Desale
Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorchidism, labial fusion, clitoromegaly, epispadias and hypospadias. It is the second most common cause of ambiguous genitalia in the neonatal period...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27941181/hypogonadotropic-hypogonadism-in-a-female-patient-with-congenital-arhinia
#11
Janel Darcy Hunter, Melissa Ann Davis, Jennifer Rachel Law
The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27940979/disparities-in-the-context-of-opportunities-for-cancer-prevention-in-early-life
#12
Greta M Massetti, Cheryll C Thomas, Kathleen R Ragan
Persistent health disparities are a major contributor to disproportionate burden of cancer for some populations. Health disparities in cancer incidence and mortality may reflect differences in exposures to risk factors early in life. Understanding the distribution of exposures to early life risk and protective factors for cancer across different populations can shed light on opportunities to promote health equity at earlier developmental stages. Disparities may differentially influence risk for cancer during early life and create opportunities to promote health equity...
November 2016: Pediatrics
https://www.readbyqxmd.com/read/27928778/previously-unreported-biallelic-mutation-in-dnajc19-are-sensorineural-hearing-loss-and-basal-ganglia-lesions-additional-features-of-dilated-cardiomyopathy-and-ataxia-dcma-syndrome
#13
Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B Wortmann
BACKGROUND: Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date DCMA syndrome has been reported in 19 patients from Canada and in two Finnish siblings. The underlying pathomechanism is unknown; however, DNAJC19 is presumed to be involved in mitochondrial membrane related processes (e.g., protein import and cardiolipin remodeling)...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27927844/congenital-hypogonadotropic-hypogonadism-functional-hypogonadotropism-or-constitutional-delay-of-growth-and-puberty-an-analysis-of-a-large-patient-series-from-a-single-tertiary-center
#14
Tero Varimo, Päivi J Miettinen, Johanna Känsäkoski, Taneli Raivio, Matti Hero
STUDY QUESTION: What diagnoses underlie delayed puberty (DP) and predict its outcome? SUMMARY ANSWER: A multitude of different diagnoses underlie DP, and in boys a history of cryptorchidism, small testicular size and slow growth velocity (GV) predict its clinical course. WHAT IS KNOWN ALREADY: DP is caused by a variety of underlying etiologies. Hormonal markers can be used in the differential diagnosis of DP but none of them have shown complete diagnostic accuracy...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27925677/prenatal-anogenital-distance-is-shorter-in-fetuses-with-hypospadias
#15
Yinon Gilboa, Sharon Perlman, Zvi Kivilevitch, Baruch Messing, Reuven Achiron
OBJECTIVES: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies...
January 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27905212/multicystic-seminal-vesicle-with-ipsilateral-renal-agenesis-two-cases-of-zinner-syndrome
#16
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
#17
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
#18
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
#19
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...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27887017/massive-seminoma-presenting-with-inguinal-lymph-node-metastases-only
#20
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
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