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Cryptorchidism

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https://www.readbyqxmd.com/read/28914499/copy-number-variants-of-ras-mapk-pathway-genes-in-patients-with-isolated-cryptorchidism
#1
F Rodríguez, C Vallejos, F Giraudo, N Unanue, M I Hernández, P Godoy, S Célis, R Martín-Arenas, M Palomares-Bralo, K E Heath, M T López, F Cassorla
Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras/MAPK pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism. Our aim was to determine whether patients with isolated cryptorchidism exhibit Ras/MAPK pathway gene copy number variations (CNVs)...
September 2017: Andrology
https://www.readbyqxmd.com/read/28899882/chromosome-15-structural-abnormalities-effect-on-igf1r-gene-expression-and-function
#2
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia...
October 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28863937/maternal-endometriosis-and-genital-malformations-in-boys-a-danish-register-based-study
#3
Linn Håkonsen Arendt, Morten Søndergaard Lindhard, Tine Brink Henriksen, Axel Forman, Jørn Olsen, Cecilia Høst Ramlau-Hansen
OBJECTIVE: To investigate the association between maternal endometriosis and occurrence of the genital anomalies cryptorchidism and hypospadias in sons. DESIGN: Population-based cohort study. SETTING: Not applicable. PATIENT(S): All live-born singleton boys born from 1978 to 2012. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Cryptorchidism and hypospadias in boys based on information from the Danish National Patient Register...
August 29, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28838001/postnatal-germ-cell-development-in-the-cryptorchid-testis-the-key-to-explain-why-early-surgery-decreases-the-risk-of-malignancy
#4
Jorgen Thorup, Erik Clasen-Linde, Ruili Li, Susanne Reinhardt, Kolja Kvist, Jaya Vikraman, Bridget R Southwell, John M Hutson, Dina Cortes
No abstract text is available yet for this article.
August 24, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28835845/sleep-disturbances-and-semen-quality-in-an-italian-cross-sectional-study
#5
Paola Viganò, Francesca Chiaffarino, Viviana Bonzi, Andrea Salonia, Elena Ricci, Enrico Papaleo, Paola Agnese Mauri, Fabio Parazzini
INTRODUCTION: In order to obtain information about the relationship between sleep disturbances and sperm parameters, we analyzed data from a study conducted in a Italian Fertility Clinic, in men of couples seeking help for infertility. PATIENTS AND METHODS: Male partners with or without a medical history of reproductive organ diseases (cryptorchidism, varicocele, orchitis, testicular torsion) were eligible for the study. There were 382 men evaluated from May 2014 to November 2016, all of whom completed a self-administered questionnaire on general lifestyle habits...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28833369/clinical-and-genetic-features-of-64-young-male-paediatric-patients-with-congenital-hypogonadotropic-hypogonadism-chh
#6
Yi Wang, Chunxiu Gong, Miao Qin, Ying Liu, Yuanyuan Tian
CONTEXT: The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of hypospadias and dual defects (patients showing hypothalamic and/or pituitary defects and testicular hypoplasia), so as to have a better understanding of CHH. DESIGN: The clinical and genetic features of CHH patients were analysed and the relationships between hypospadias, dual defects and genetics investigated...
August 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28832317/cryptorchidism-experience-and-reason
#7
Kyrollis Attalla, Eric Arnone, Pierre Williot, Saul P Greenfield
INTRODUCTION: To characterize our contemporary clinical experience with cryptorchidism. MATERIALS AND METHODS: The records of boys referred for cryptorchidism were reviewed from 2001 to 2011. Data regarding the incidence of retractile testes, testicular ascent, surgical approach and outcomes were tabulated. Follow up was both early (< 12 weeks) and late (> 12 weeks). RESULTS: A total of 1885 patients, or 2593 testes, were identified...
August 2017: Canadian Journal of Urology
https://www.readbyqxmd.com/read/28816282/-long-term-follow-up-experience-of-comprehensive-treatment-of-testicular-mixed-germ-cell-tumors
#8
J F Ye, B Wang, L L Ma, L Zhao, G L Wang, K Hong
OBJECTIVE: Testicular mixed germ cell tumor is mixed with embryonal carcinoma, choriocarcinoma, yolk sac tumor, teratoma, seminoma and other two or more components of the testicular tumor, the clinical is relatively rare and high degree of malignancy, this article will summarize its clinical features and optimize its treatment. METHODS: A retrospective analysis of the clinical data of 22 patients with testicular tumor mixed germ cell in Peking University Third Hospital from May 1994 to November 2016 was conducted using a combination of statistical analysis and discussion of the relevant literature...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28807869/a-novel-mutation-in-smoc1-and-variable-phenotypic-expression-in-two-patients-with-waardenburg-anophthalmia-syndrome
#9
Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi, Elham Alehabib, Abbas Tafakhori, Somayeh Alinaghi, Marjan Chapi, Amir Hossein Johari, Hossein Darvish
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28782742/laparoscopic-management-of-m%C3%A3-llerian-duct-remnants-in-the-paediatric-age-evidence-and-outcome-analysis
#10
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/28780519/analysis-of-genetic-and-clinical-characteristics-of-a-chinese-kallmann-syndrome-cohort-with-anos1-mutations
#11
Min Nie, Hongli Xu, Rongrong Chen, Jiangfeng Mao, Xi Wang, Shuyu Xiong, Junjie Zheng, Bingqing Yu, Mingxuan Cui, Wanlu Ma, Qibing Huang, Hongbing Zhang, Xueyan Wu
OBJECTIVE: To analyze ANOS1 gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients with ANOS1 mutations. PATIENTS AND METHODS: Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients' ANOS1 gene sequences were analyzed by direct sequencing of PCR-amplified products. In silico analysis was used to assess functional relevance of newly identified missense mutations...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28774369/-unusual-facies-with-delayed-development-and-multiple-malformations-in-a-14-month-old-boy
#12
Tong Lu, Yi Wang
Schinzel-Giedion syndrome is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism)...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28771045/expression-patterns-and-changes-of-the-lcn2-gene-in-the-testes-of-induced-cryptorchidism-and-busulfan-treated-mice
#13
Zhenlong Kang, Na Qiao, Zhigang Tan, Zhaoxin Tang, Ying Li
Lipocalin-2 (LCN2) was known to play various roles in different type cells; however, little was known about the effect of LCN2 in male fertility. In this study, we aimed to explore the expression pattern of LCN2 with increasing age in mice, and to obtain insight into the role of LCN2 in mice testes by induced cryptorchidism and busulfan-treated infertility. In situ hybridization showed that LCN2 was localized primarily in Leydig cells, but was absent in Sertoli and germ cells. Its expression in testes exhibited an age-related increase from day 1 to 8 months, then reduced by the twelth month...
August 3, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#14
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28767923/surgical-correction-of-ectopic-penis-and-scrotum-associated-with-bilateral-orchidopexy
#15
Daniel Santos Rocha Sobral, Helder Damásio da Silva, Eulálio Damázio
Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared...
April 2017: Einstein
https://www.readbyqxmd.com/read/28764266/mri-findings-of-persistent-mullerian-duct-syndrome-a-rare-case-report
#16
Rambir Singh, Sunil D Kumar, Nidhi Aggarwal
Embryologically mullerian duct derivatives lead to formation of female genitalia and wolffian duct derivatives to male genitalia. Presence of mullerian duct derivatives in a chromosomally normal male (XY) leads to male pseudohermaphroditism and is referred to as Persistent Mullerian Duct Syndrome (PMDS). A young male patient with bilateral cryptorchidism presented to our hospital who was subsequently imaged. There are many case reports of persistent mullerian duct syndrome but they focus mainly on surgical aspects...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28761584/canadian-urological-association-pediatric-urologists-of-canada-cua-puc-guideline-for-the-diagnosis-management-and-followup-of-cryptorchidism
#17
Luis H Braga, Armando J Lorenzo, Rodrigo L P Romao
No abstract text is available yet for this article.
July 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28752067/two-stage-urethroplasty-with-buccal-mucosa-for-penoscrotal-hypospadias-reconstruction-in-a-male-with-a-46-xx-karyotype
#18
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/28742629/noonan-syndrome-an-underestimated-cause-of-severe-to-profound-sensorineural-hearing-impairment-which-clues-to-suspect-the-diagnosis
#19
Alban Ziegler, Natalie Loundon, Laurence Jonard, Hélène Cavé, Geneviève Baujat, Souad Gherbi, Vincent Couloigner, Sandrine Marlin
OBJECTIVE: To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. STUDY DESIGN: New clinical cases and review. SETTING: Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. PATIENTS: Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. INTERVENTIONS: Diagnostic and review of the literature...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28742509/persistent-m%C3%A3-llerian-duct-syndrome-a-novel-mutation-in-the-%C3%AE-nti-m%C3%A3-llerian-%C3%AE-ormone-gene
#20
Ayça Altincik, Fahri Karaca, Hüseyin Onay
BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT: A 4-month-old male presented with bilateral cryptorchidism and normal external genitalia. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
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