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Cryptorchidism

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https://www.readbyqxmd.com/read/28708534/the-expressions-in-oxytocin-and-sex-steroid-receptors-in-the-reproductive-tissues-of-normal-and-unilateral-cryptorchid-dogs
#1
N Prapaiwan, S Manee-In, W Moonarmart, S Srisuwatanasagul
In males, oxytocin is involved with various physiological functions, such as reproductive tract contractility and testicular steroidogenesis. Due to the relationship between sex steroid hormones, oxytocin receptor (OTR) expression and cryptorchidism pathogenesis, this study aimed to investigate the mRNA expression and the localization of OTR in relation to sex steroid receptors in the male reproductive tract of both normal and unilateral abdominal cryptorchid dogs using quantitative PCR and immunohistochemistry...
June 5, 2017: Theriogenology
https://www.readbyqxmd.com/read/28700985/genes-involved-in-long-term-memory-are-expressed-in-testis-of-cryptorchid-boys-and-respond-to-gnrha-treatment
#2
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
It has been known for many years that boys with unilateral or bilateral undescended testis (cryptorchidism) tend to have a low IQ, and those who belong to the high infertility risk (HIR) group perform less well at school than low infertility risk (LIR) patients. However, the molecular biological processes underlying this phenomenon are not understood. In this study, we report the outcome of testicular RNA profiling for genes involved in long-term memory formation. We analyzed the histology and the transcriptome of testicular biopsies from bilateral HIR cryptorchid boys, comparing those who received GnRHa treatment for 6 months after the first surgery with those who did not receive GnRHa before the second surgery...
July 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28699204/postnatal-risk-factors-for-testicular-cancer-the-epsam-case-control-study
#3
Giovenale Moirano, Daniela Zugna, Chiara Grasso, Dario Mirabelli, Patrizia Lista, Libero Ciuffreda, Nereo Segnan, Franco Merletti, Lorenzo Richiardi
Testicular cancer is considered to originate from an impaired differentiation of fetal germ cells, but puberty could represent another time window of susceptibility. This study aimed at investigating the association between environmental exposures acting during puberty/adolescence (13 to 19 years of age) and the risk of testicular cancer. We used data of the EPSAM study, a case-control study on germ-cell testicular cancer conducted in the province of Turin, Italy, involving cases diagnosed between 1997 and 2008...
July 12, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28698791/first-reported-case-of-paratesticular-seminoma-in-a-postpubertal-cryptorchid-testis
#4
Imad Elhajjar, Khalid Sayyid, Anas Mugharbil, Houssam Khodor Abtar
Cryptorchidism is a very common anomaly, affecting 2-4% of male infants and is more common in premature infants. The long-term outcome despite orchidopexy still remains problematic and controversial with a risk of developing cancer 5-10 times greater than normal. Paratesticular tumors are mostly benign and very rare in children however malignant paratesticular tumors do arise, the most common being rhabdomyosarcoma. Primary paratesticular seminoma is extremely rare by itself and in most cases is associated with foci of seminoma within the testis...
June 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28687524/pierpont-syndrome-associated-with-the-p-tyr446cys-missense-mutation-in-tbl1xr1
#5
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, Jude Abadie, Joseph Shieh, Jessica Van Ziffle, Mark Kvale, Hane Lee, Pui-Yan Kwok, Neil Risch, Marta Sabbadini
We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous cleft palate, bilateral cryptorchidism and hydronephrosis. Cranial imaging demonstrated an Arnold Chiari malformation that was also present in his maternal uncle by report...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28654092/risk-factors-for-cryptorchidism
#6
REVIEW
Jason K Gurney, Katherine A McGlynn, James Stanley, Tony Merriman, Virginia Signal, Caroline Shaw, Richard Edwards, Lorenzo Richiardi, John Hutson, Diana Sarfati
Undescended testis - known as cryptorchidism - is one of the most common congenital abnormalities observed in boys, and is one of the few known risk factors for testicular cancer. The key factors that contribute to the occurrence of cryptorchidism remain elusive. Testicular descent is thought to occur during two hormonally-controlled phases in fetal development - between 8-15 weeks (the first phase of decent) and 25-35 weeks gestation (the second phase of descent); the failure of a testis to descend permanently is probably caused by disruptions to one or both of these phases, but the causes and mechanisms of such disruptions are still unclear...
June 27, 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/28645010/a-rare-case-of-male-pseudohermaphroditism-persistent-mullerian-duct-syndrome-with-transverse-testicular-ectopia-case-report-and-review-of-literature
#7
Aashish Rajesh, Mohammed Farooq
INTRODUCTION: Persistent Mullerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism. Transverse testicular ectopia (TTE) is characterized by one testis moving to the opposite side and both testes traversing the same inguinal canal. CASE PRESENTATION: An 11-month-old boy presented with bilateral cryptorchidism. The left testis was not palpable; the right testis was canalicular with a right inguinal hernia. Ultrasound showed both testes located in the right inguinal canal...
June 15, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28639144/rural-versus-urban-compliance-in-the-management-of-cryptorchidism-is-there-a-difference
#8
Dana Point, Chad Morley, Ali Tourchi, Sunil Reddy, Pokket Sirisreetreerux, John Gearhart, Osama Al-Omar
The authors compared the age and referral patterns of pediatric patients undergoing surgical intervention for cryptorchidism at a rural, West Virginia University, versus urban, Johns Hopkins University, tertiary center. A retrospective review of patients undergoing surgical evaluation for cryptorchidism was performed. Patients treated for reasons unrelated to cryptorchidism or referred for multiple urologic diagnoses were excluded. The patients at each institution were then divided into four groups based on their corrected gestational age at time of surgery...
August 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28638814/congenital-urogenital-abnormalities-in-children-with-congenital-hypothyroidism
#9
Parsa Yousefi Chaijan, Fatemeh Dorreh, Mojtaba Sharafkhah, Mohammad Amiri, Mohsen Ebrahimimonfared, Mohammad Rafeie, Fatemeh Safi
Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hundred children with PCH, as the case group, and 100 healthy children, as the control group, were selected using convenient sampling...
2017: Medical Journal of the Islamic Republic of Iran
https://www.readbyqxmd.com/read/28632892/maternal-overweight-and-obesity-and-genital-anomalies-in-male-offspring-a-population-based-swedish-cohort-study
#10
Linn Håkonsen Arendt, Cecilia Høst Ramlau-Hansen, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Yongfu Yu, Sven Cnattingius
BACKGROUND: Overweight and obese pregnant women face higher risk of several critical birth outcomes, including an overall increased risk of congenital abnormalities. Only few studies have focused on associations between maternal overweight and the genital anomalies in boys, cryptorchidism and hypospadias, and results are inconclusive. METHODS: We performed a population-based cohort study and assessed the associations between maternal body mass index (BMI) in early pregnancy and occurrence of cryptorchidism and hypospadias...
June 20, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28630588/testicular-cancer-in-two-brothers-of-a-quadruplet-a-case-report-and-a-review-of-literature
#11
Agnė Ulytė, Albertas Ulys, Kęstutis Sužiedėlis, Aušvydas Patašius, Giedrė Smailytė
Introduction. Testicular cancer and a multiple birth are both rare events, and the risk of testicular cancer is increased in twins. In Lithuania, only five quadruplets have been recorded since the middle of the 20th century. In this report, we present two rare events in one family: testicular cancer in two brothers of a quadruplet (three brothers and a sister). Case description. Both patients were diagnosed at 21 years of age and died within two years from the diagnosis despite treatment. The third symptomless brother did not have testicular pathology...
2017: Acta medica Lituanica
https://www.readbyqxmd.com/read/28613046/anti-mullerian-hormone-amh-determinations-in-the-pediatric-and-adolescent-endocrine-practice
#12
Amir Weintraub, Talia Eldar-Geva
Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28606200/exomic-and-epigenomic-analyses-in-a-pair-of-monozygotic-twins-discordant-for-cryptorchidism
#13
Peng Lu, Pengyun Wang, Lianbing Li, Chengqi Xu, Jing Crystal Liu, Xiangqian Guo, Dawei He, Huizhe Huang, Zhi Cheng
Cryptorchidism represents one of the most common human congenital anomalies. In most cases, its etiology remains unclear and seems to be multifactorial. In the present study, a pair of monozygotic twins discordant for cryptorchidism was identified. Twin zygosity was confirmed by microsatellite genotyping. Whole exome sequencing and methylated DNA immunoprecipitation sequencing (MeDIP-Seq) of DNA extract from leucocytes were performed to, respectively, evaluate their exomes and epigenomes. No differences in exome sequencing data were found between the twins after validation...
June 13, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28599968/the-possible-role-of-amh-in-shortening-the-gubernacular-cord-in-testicular-descent-a-reappraisal-of-the-evidence
#14
John M Hutson, Francisco A Lopez-Marambio
BACKGROUND/AIM: Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance (MIS), is glycoprotein hormone secreted by the fetal Sertoli cells to regulate regression of the Müllerian ducts, the anlagen of the uterus, fallopian tubes, and upper vagina. After its existence was predicted in 1946 and its isolation and purification in the 1970's, a huge amount of information has been gathered on its molecular biology and function in the last 30-40years. Once thought to be a locally acting factor in the male fetus during sexual differentiation, it is now recognized as an endocrine hormone present in both sexes and with functions throughout life...
May 27, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28589677/telehealth-in-paediatric-surgery-accuracy-of-clinical-decisions-made-by-videoconference
#15
Grace L Brownlee, Liam J Caffery, Craig A McBride, Bhaveshkumar Patel, Anthony C Smith
AIM: Telehealth is a useful method of providing specialist consultation to a geographically diverse population. Canadian studies of telehealth for paediatric surgery demonstrate good accuracy, but have low numbers of cryptorchid patients in their cohorts. Our aim was to confirm Canadian studies for our cohort and to assess accuracy regarding cryptorchidism. METHODS: We conducted a cohort study of patients seen via paediatric surgical telehealth over a 12-month period, to determine accuracy of telediagnosis with respect to face-to-face diagnosis and plan...
June 7, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28588710/the-clinical-analysis-of-small-supernumerary-marker-chromosomes-in-17-children-with-mos-45-x-46-x-mar-karyotype
#16
Hongying Wang, Ting Wang, Naichao Yang, Yaxiang He, Linqi Chen, Liyi Hong, Xuejun Shao, Hong Li, Hong Zhu, Haibo Li
Small supernumerary maker chromosome (sSMC) is a type of structurally abnormal chromosome. In order to identify the origin, morphology and other characteristics of sSMCs in children with mos 45,X/46,X,+mar karyotype, 17 patients (16 females and 1 male) were analyzed. All patients underwent general physical examination, gonadal imaging and molecular cytogenetic analyses, including Giemsa banding, dual-color fluorescence in situ hybridization and detection of the sex-determining region Y gene by polymerase chain reaction...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28588434/maternal-uniparental-disomy-14-temple-syndrome-as-a-result-of-a-robertsonian-translocation
#17
Veronica Bertini, Antonella Fogli, Rossella Bruno, Alessia Azzarà, Angela Michelucci, Teresa Mattina, Silvano Bertelloni, Angelo Valetto
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588045/assessing-the-impact-of-in-utero-exposures-potential-effects-of-paracetamol-on-male-reproductive-development
#18
REVIEW
Karen R Kilcoyne, Rod T Mitchell
Human male reproductive disorders (cryptorchidism, hypospadias, testicular cancer and low sperm counts) are common and some may be increasing in incidence worldwide. These associated disorders can arise from subnormal testosterone production during fetal life. This has resulted in a focus on in-utero environmental influences that may result in reproductive effects on the offspring in later life. Over recent years, there has been a dramatic increase in the scientific literature describing associations between in-utero environmental exposures (eg, industrial chemicals and pharmaceuticals) and subsequent reproductive outcomes in male offspring...
June 6, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28587367/seasonal-trends-in-the-prevalence-of-hypospadias-aetiological-implications
#19
C Mamoulakis, G Avgenakis, C Gkatzoudi, G Duyker, I E Zisis, I Heretis, S Antypas, N Sofikitis, D A Spandidos, A M Tsatsakis, A Tzonou
The aim of the present study was to examine the seasonality of hypospadias in Greece in an attempt to elucidate the aetiology. All boys born between 1991-1998, who underwent hypospadias repair at 'Aghia Sophia' Children's Hospital, Athens (n=542) were analysed. All Greek live-born males during the same period (population at risk; m=421,175) served as the controls. Seasonality by month of birth was evaluated with specific statistical tools. Meteorological parameters were also analysed. All tests yielded significant results, suggesting a simple harmonic prevalence pattern (highest/lowest: autumn, peak in October/spring, trough in April)...
June 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28580040/pseudo-prune-belly-syndrome-diagnosis-revealed-by-imaging-a-case-report-and-brief-review
#20
Hemal Grover, Sanjay Sethi, Jatin Garg, Amrit Pal Ahluwalia
BACKGROUND: Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome and the current literature on the role of newer imaging modalities, such as Magnetic Resonance Imaging (MRI), remains relatively sparse...
2017: Polish Journal of Radiology
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