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Cryptorchidism

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https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#1
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333256/analgesia-use-during-pregnancy-and-risk-of-cryptorchidism-a-systematic-review-and-meta-analysis
#2
Jason Gurney, Lorenzo Richiardi, Katherine A McGlynn, Virginia Signal, Diana Sarfati
STUDY QUESTION: Are boys who are born to mothers who use analgesics during pregnancy at increased risk of cryptorchidism compared to those born to mothers who do not take analgesia? SUMMARY ANSWER: In this systematic review and meta-analysis of 10 published studies, we observed only weak evidence of an association between analgesia use during pregnancy and risk of cryptorchidism in the son. WHAT IS KNOWN ALREADY: Concentrations of analgesia relevant to human exposure have been implicated as causing endocrine disturbances in the developing foetal testis...
March 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28331809/persistent-mullerian-duct-syndrome-presenting-in-an-incarcerated-recurrent-inguinal-hernia-with-hydrocele
#3
Lauren Pulido, Gosta Iwasiuk, Michael Sparkuhl, Dang Bui, Haley Springs
Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair. A 49-year-old man presented to the clinic for recurrent inguinal hernia with enlarging left scrotum consistent with hydrocele on imaging. Upon exploration of the left groin, the left testis was pulled up into the abdomen, revealing a uterus, fallopian tube, and a second atrophic testis. Despite the rarity of HUI, the differential diagnosis for inguinal hernia with associated cryptorchidism and/or hydrocele should include this rare form of pseudohermaphroditism...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28319024/the-prostatic-utricle-an-under-recognized-condition-resulting-in-significant-morbidity-in-boys-with-both-hypospadias-and-normal-external-genitalia
#4
Austin G Hester, Stanley J Kogan
INTRODUCTION: Pediatric presentations of a prostatic utricle have received only scant attention. Though recognized with increased frequency in boys with hypospadias, little is described about their incidence and potential for morbidity in boys with normal external genitalia. METHODS: We initially reviewed a cohort of 64 patients with hypospadias seen over a 3-year period to determine the frequency of investigative lower urinary tract studies and utricle identification...
March 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#5
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28295560/castration-in-the-standing-horse-combining-laparoscopic-and-conventional-technique
#6
A B M Rijkenhuizen, M van der Harst
BACKGROUND: Standing laparoscopic castration without orchidectomy has been shown to be a reliable method of castration of abdominal cryptorchids, but it cannot be recommended as a method for castration of inguinal cryptorchids and normal males. An alternative laparoscopic method of castration of horses with descended testes was developed. OBJECTIVES: To report the results of laparoscopically assisted abdominal transection of the spermatic cord and a modified open castration method in the standing horse for castration of descended testes in unilateral abdominal cryptorchids...
March 12, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28295519/single-nucleotide-polymorphisms-associated-with-nonsyndromic-cryptorchidism-in-mexican-patients
#7
M Chávez-Saldaña, R M Vigueras-Villaseñor, E Yokoyama-Rebollar, D A Landero-Huerta, J C Rojas-Castañeda, L Taja-Chayeb, J O Cuevas-Alpuche, E Zambrano
Cryptorchidism is a frequent genitourinary malformation considered as an important risk factor for infertility and testicular malignancy. The aetiology of cryptorchidism is multifactorial in which certain SNPs, capable of inhibiting the development of the gubernaculum, are implicated. We analysed 16 SNPs by allelic discrimination and automated sequencing in 85 patients and 99 healthy people, with the objective to identify the association between these variants and isolated cryptorchidism. In two different patients with unilateral cryptorchidism, we found the variants rs121912556 and p...
March 10, 2017: Andrologia
https://www.readbyqxmd.com/read/28286686/synchronous-seminoma-in-abdominopelvic-and-inguinal-testes-a-rare-presentation-with-unusual-morphology
#8
Neha Prabhakar, Bhawna Sethi, Seema Nagger, Arun Saxena
The development of testes occurs in the abdomen during fetal life, after which they migrate into the scrotal sacs during the third trimester. During their descent, they may get arrested anywhere along the tract. Risk of testicular cancer is higher in patients with undescended testes, abdominal testis being more prone than inguinal. Seminoma is the commonest cancer in undescended testis. However, synchronous seminoma involving bilateral cryptorchid testis is rare. Present case is uncommon due to synchronous involvement of abdominopelvic and inguinal testes in extended age...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28277341/analgesic-use-in-pregnancy-and-male-reproductive-development
#9
Pablo Hurtado-Gonzalez, Rod T Mitchell
PURPOSE OF REVIEW: Male reproductive disorders are common and increasing in incidence in many countries. Environmental factors (including pharmaceuticals) have been implicated in the development of these disorders. This review aims to summarize the emerging epidemiological and experimental evidence for a potential role of in-utero exposure to analgesics in the development of male reproductive disorders. RECENT FINDINGS: A number of epidemiological studies have demonstrated an association between in utero exposure to analgesics and the development of cryptorchidism, although these findings are not consistent across all studies...
March 8, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28265314/pediatric-urologists-must-advocate-for-improved-quality-of-care-in-patients-with-cryptorchidism
#10
Rodrigo L P Romao
No abstract text is available yet for this article.
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28265313/cryptorchidism-a-practical-review-for-all-community-healthcare-providers
#11
REVIEW
Luis H Braga, Armando J Lorenzo
Cryptorchidism is one of the most common congenital anomalies of the male genitalia, occurring in 1% of boys by the age of one year. Even though the etiology of cryptorchidism is multifactorial, management has evolved with the clear recognition that hormonal treatment is not effective and surgery between 6-18 months of age leads to better testicular outcomes. Diagnostic laparoscopy is considered the standard approach for management of non-palpable testes, and can be combined with one or two-stage orchidopexy, with up to 80-90% success rates...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28261830/genetic-analysis-of-hoxa11-gene-in-chinese-patients-with-cryptorchidism
#12
P Lu, Y Wang, F Wang, J Huang, Y Zeng, D He, H Huang, Z Cheng
Cryptorchidism is the most common congenital anomaly in male children. Its aetiology remains unknown in the majority of cases. Because HOXA11 plays a vital role in regulating testicular descent, genetic variants in HOXA11 genes may contribute to the risk of cryptorchidism. In this study, mutation analysis was performed on the HOXA11 gene in a cohort of 89 patients with cryptorchidism. Furthermore, an association analysis of the HOXA11 tag single nucleotide polymorphism rs6461992 was performed in 168 patients with unilateral cryptorchidism and 193 controls...
March 6, 2017: Andrologia
https://www.readbyqxmd.com/read/28256727/laparoscopic-cryptorchidectomy-with-a-vessel-sealing-device-in-dorsal-recumbent-horses-43-cases
#13
José L Bracamonte, Keri L Thomas
OBJECTIVE: To document laparoscopic cryptorchidectomy with a vessel-sealing device in dorsal recumbent horses. STUDY DESIGN: Retrospective study. ANIMALS: Forty-three male horses. METHODS: Food was withheld for 36 hours before horses were placed under general anesthesia and positioned in dorsal recumbency. One laparoscopic portal and 2 instrument portals were placed for the laparoscopic procedure. A third instrument portal was created in bilateral cryptorchid horses...
March 3, 2017: Veterinary Surgery: VS
https://www.readbyqxmd.com/read/28254240/scrotal-testis-size-in-unilateral-non-palpable-cryptorchidism-what-it-can-and-cannot-tell-study-of-a-middle-eastern-population
#14
P Shadpour, A H Kashi, A Arvin
BACKGROUND: Predicting the fate of a unilateral non-palpable testis based on its scrotal counterpart has been recommended by some, yet disputed by others, and the question remains open. OBJECTIVE: To investigate the accuracy of contralateral testis hypertrophy in predicting the absence of a unilateral non-palpable testis in a Middle Eastern population. STUDY DESIGN: This retrospective study included all patients referred to the present institution with unilateral non-palpable testis between June 2010 and August 2014, who had undergone laparoscopy...
January 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28225973/do-you-know-this-syndrome-leopard-syndrome
#15
Flávio Heleno da Silva Queiroz Cançado, Luis Candido Pinto da Silva, Paulo Franco Taitson, Ana Carolina Dias Viana de Andrade, Matheus Melo Pithon, Dauro Douglas Oliveira
Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28222406/leydig-cell-clustering-and-reinke-crystal-distribution-in-relation-to-hormonal-function-in-adult-patients-with-testicular-dysgenesis-syndrome-tds-including-cryptorchidism
#16
Rikke R Soerensen, Trine H Johannsen, Niels E Skakkebaek, Ewa Rajpert-De Meyts
OBJECTIVE: Testicular dysgenesis syndrome (TDS) comprises testicular germ cell cancer, cryptorchidism and some cases of male infertility and hypospadias, which can be linked to impairment of intrauterine gonadal development. Among histological signs of TDS, large Leydig cell (LC) clusters (micronodules) are frequently present. This study aimed to investigate possible associations of LC micronodules with the presence of Reinke crystals and hormonal function of LCs, the latter primarily reflected by serum concentrations of luteinising hormone (LH) and testosterone, in patients with TDS...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28216936/seminoma-of-undescended-testis-with-urinary-bladder-metastasis-a-case-report-with-review-of-literature
#17
Syed Althaf, Kiran Shankar, Vishnu Kurpad, M N Suma
Cryptorchidism is the most common predisposing factor in the development of testicular germ cell tumors. Seminoma is the most common malignancy developing in a cryptorchid testis, usually has lymphatic but rarely hematogenous metastasis. The Urinary Bladder is an extremely rare site of metastasis of seminoma metastasis. A 29-year-old male patient presented to us with a history of infertility and an intra-abdominal mass. He was investigated and treated and was found to have an intra-abdominal seminoma with synchronous urinary bladder metastasis...
January 2017: Urology Annals
https://www.readbyqxmd.com/read/28213853/to-pex-or-not-to-pex-what-to-do-for-the-contralateral-testis-when-a-nubbin-is-discovered
#18
REVIEW
John E Kehoe, Matthew S Christman
PURPOSE OF REVIEW: Testicular remnants or nubbins are commonly found in the evaluation and treatment of cryptorchidism. While much debate focuses on the management of the nubbin itself, there is also great uncertainty and variation in the management of the contralateral descended testis. Herein, we review the relevant literature informing the decision to perform a contralateral orchiopexy. RECENT FINDINGS: Although there is very little recent literature directly addressing the question, some studies have better characterized differences in practice, the risk of intravaginal torsion in the contralateral testis and potential consequences in the selection of technique...
February 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#19
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#20
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
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