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https://www.readbyqxmd.com/read/28632892/maternal-overweight-and-obesity-and-genital-anomalies-in-male-offspring-a-population-based-swedish-cohort-study
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28576146/coincidence-of-persistent-m%C3%A3-llerian-duct-syndrome-and-testicular-tumors-in-dogs
#12
Eun Jung Park, Seok-Hee Lee, Young-Kwang Jo, Sang-Eun Hahn, Do-Min Go, Su-Hyung Lee, Byeong-Chun Lee, Goo Jang
BACKGROUND: Persistent Müllerian duct syndrome (PMDS), a rare form of male pseudohermaphroditism in dogs, is an abnormal sexual phenotype in males that is characterized by the existence of a hypoplastic oviduct, uterus, and cranial part of the vagina. Dogs suffering from PMDS are often accompanied by cryptorchidism. To date, it has been mainly found in the Miniature Schnauzer breed. CASE PRESENTATION: In this report, two cases of PMDS with a malignant testicular tumor originating from cryptorchidism in breeds other than the Miniature Schnauzer breed are described...
June 2, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28575284/role-of-heat-shock-factor-1-in-conserving-cholesterol-transportation-in-leydig-cell-steroidogenesis-via-steroidogenic-acute-regulatory-protein
#13
Shintaro Oka, Koji Shiraishi, Mitsuaki Fujimoto, Arpit Katiyar, Ryosuke Takii, Akira Nakai, Hideyasu Matsuyama
Testicular testosterone synthesis begins with cholesterol transport into mitochondria via steroidogenic acute regulatory protein (StAR) in Leydig cells. Acute heat stress is known to obstruct testicular steroidogenesis by transcriptional repression of StAR. In contrast, chronic heat stress such as cryptorchidism or varicocele generally does not affect testicular steroidogenesis, suggesting that Leydig cells adapt to heat stress and retain their steroid synthesis ability. However, the mechanisms of the stress response in steroid-producing cells are unclear...
May 29, 2017: Endocrinology
https://www.readbyqxmd.com/read/28562391/pierpont-syndrome-report-of-a-new-patient
#14
Anne-Karin Kahlert, Sabine Weidensee, Luisa Mackenroth, Joseph Porrmann, Andreas Rump, Nataliya Di Donato, Evelin Schröck, Andreas Tzschach
Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p.(Tyr446Cys)] has been described recently in six unrelated patients with Pierpont syndrome. We report on a male child with developmental delay, distinctive facial dysmorphic features, dystrophy, and abnormal fat distribution in the feet, in whom we identified the identical TBL1XR1 mutation...
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28557710/a-case-control-study-of-maternal-polybrominated-diphenyl-ether-pbde-exposure-and-cryptorchidism-in-canadian-populations
#15
Cynthia G Goodyer, Shirley Poon, Katarina Aleksa, Laura Hou, Veronica Atehortua, Amanda Carnevale, Roman Jednak, Sherif Emil, Darius Bagli, Sumit Dave, Barbara F Hales, Jonathan Chevrier
BACKGROUND: Polybrominated diphenyl ethers (PBDEs) are flame retardants found in North American household products during the past four decades. These chemicals leach out in dust as products age, exposing individuals daily through inhalation and ingestion. Animal studies suggest that PBDEs disrupt sex hormones and adversely affect development of the reproductive system. OBJECTIVES: In the present study, we examined whether there is a link between maternal hair PBDE concentrations and the risk of cryptorchidism (undescended testes) in male infants; testis descent is known to be dependent on androgens...
May 26, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28544660/altered-secretion-of-sertoli-cells-hormones-in-2-year-old-prepubertal-cryptorchid-boys-a-cross-sectional-study
#16
S M Hamdi, T Almont, P Galinier, R Mieusset, P Thonneau
In cryptorchid boys, failures in germ cell development have been clearly established. Some studies reported some abnormalities in Sertoli cells morphology but the results regarding their endocrine secretion remain controversial. To compare testicular hormone levels in young boys with and without cryptorchidism, we performed a cross-sectional hospital-based study. From surgery appointment records, we identified a case group of boys with unilateral or bilateral cryptorchidism and a control group undergoing dental care, minor osteoarticular or dermal surgery...
May 23, 2017: Andrology
https://www.readbyqxmd.com/read/28542403/ghrelin-modulates-testicular-damage-in-a-cryptorchid-mouse-model
#17
Enrica Bianchi, Kim Boekelheide, Mark Sigman, Susan J Hall, Kathleen Hwang
Cryptorchidism or undescended testis (UDT) is a common congenital abnormality associated with increased risk for developing male infertility and testicular cancer. This study elucidated the effects of endogenous ghrelin or growth hormone secretagogue receptor (GHSR) deletion on mouse reproductive performance and evaluated the ability of ghrelin to prevent testicular damage in a surgical cryptorchid mouse model. Reciprocal matings with heterozygous/homozygous ghrelin and GHSR knockout mice were performed. Litter size and germ cell apoptosis were recorded and testicular histological evaluations were performed...
2017: PloS One
https://www.readbyqxmd.com/read/28528332/the-persistent-m%C3%A3-llerian-duct-syndrome-an-update-based-upon-a-personal-experience-of-157-cases
#18
Jean-Yves Picard, Richard L Cate, Chrystèle Racine, Nathalie Josso
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia...
May 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28505621/gnrha-treatment-of-cryptorchid-boys-affects-genes-involved-in-hormonal-control-of-the-hpg-axis-and-fertility
#19
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
The gonadotropin-releasing hormone agonist (GnRHa; Buserelin) rescues fertility during adulthood in the majority of high infertility risk cryptorchid boys presenting with defective mini-puberty. However, the molecular events governing this effect are not understood. We report the outcome of an RNA profiling analysis of testicular biopsies from 4 operated patients who were treated with GnRHa for 6 months versus 3 operated controls who were not treated. GnRHa induces a significant transcriptional response, including protein-coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis...
May 16, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#20
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
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