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Cryptorchidism

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https://www.readbyqxmd.com/read/28225973/do-you-know-this-syndrome-leopard-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28199193/epigenetic-and-risk-factors-of-testicular-germ-cell-tumors-a-brief-review
#7
Daniel Adrian Landero-Huerta, Rosa Maria Vigueras-Villasenor, Emiy Yokoyama-Rebollar, Elena Arechaga-Ocampo, Julio Cesar Rojas-Castaneda, Francisco Jimenez-Trejo, Margarita Chavez-Saldana
Testicular germ cell cancer (TGCT) is the most common malignancy among young adult males, which has become important due to its increased incidence and mortality in the population worldwide. The etiology is multifactorial. Recent studies have shown some associations between the development of isolated TGCT and certain risk factors, such as exposure to endocrine disruptors, cryptorchidism, and family history of cancer, in order to identify the key pieces in carcinogenesis. Some of the most important findings in recent years is the association of different genes, such as c-KIT/KITLG, expression of the miR-371-373 cluster and protein expression as c-KIT and POU5F1 in the development of this neoplasia, and the identification of new molecular markers as TGFBR3 gene, identifying aberrant methylation patterns in promoter regions of several genes, expression of miR-1297 which regulates PTEN and protein expression as DMTR1...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28195315/genetic-testing-facilitates-prepubertal-diagnosis-of-congenital-hypogonadotropic-hypogonadism
#8
Cheng Xu, Mariarosaria Lang-Muritano, Franziska Phan-Hug, Andrew A Dwyer, Gerasimos P Sykiotis, Daniele Cassatella, James Acierno, Moosa Mohammadi, Nelly Pitteloud
Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by GnRH deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly performed in general practice. We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism. Hormonal testing at age 2.5 months showed low testosterone (0...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28187504/extreme-spermatogenesis-failure-andrological-phenotype-and-intracytoplasmic-sperm-injection-outcomes
#9
P Plouvier, A-L Barbotin, F Boitrelle, D Dewailly, V Mitchell, J-M Rigot, V Lefebvre-Khalil, G Robin
Patients with very low sperm count through direct sperm examination can exhibit extreme oligozoospermia or cryptozoospermia (after centrifugation). The management of these patients is a real challenge for both clinicians and biologists. In this retrospective and comparative cohort study, we compared the andrological phenotype of patients with extreme alterations of spermatogenesis and assessed whether the origin of spermatozoa (testicular or ejaculate) had any influence on intracytoplasmic sperm injection (ICSI) outcomes...
February 10, 2017: Andrology
https://www.readbyqxmd.com/read/28171846/an-inguinal-hernia-with-cryptorchidism-with-a-leydig-cell-tumor-in-an-elderly-man-a-case-report
#10
Toru Zuiki, Jun Ohki, Toshihide Komatsubara, Alan Kawarai Lefor, Yuzo Miyahara, Masanori Ochi, Norio Hirota
INTRODUCTION: Cryptorchidism is common in children but is rare in the elderly. It often presents with a constellation of signs and symptoms similar to routine inguinal hernias. We present the case of an elderly man with cryptorchidism containing a Leydig cell tumor and provide clinical insights. PRESENTATION OF CASE: An-84-year old man was admitted with an incarcerated right lower quadrant hernia. Both testes were absent on palpation of the scrotum. After reduction of the hernia, computed tomography scan revealed a round lesion in the hernia sac, which was suspected to be the ectopic testis...
January 23, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28165343/sphingosine-1-phosphate-lyase-mutations-cause-primary-adrenal-insufficiency-and-steroid-resistant-nephrotic-syndrome
#11
Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin Saleem, Jenny Hurcombe, Agnieszka Bierzynska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, Ruth Krone, Bulent Hacihamdioglu, Erkan Sari, Ediz Yesilkaya, Helen L Storr, Maria Clemente, Monica Fernandez-Cancio, Nuria Camats, Nanik Ram, John C Achermann, Paul P Van Veldhoven, Leonardo Guasti, Debora Braslavsky, Tulay Guran, Louise A Metherell
Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irreversible cleavage of the lipid-signaling molecule sphingosine-1-phosphate (S1P). Mutations in other upstream components of the pathway lead to harmful accumulation of lysosomal sphingolipid species, which are associated with a series of conditions known as the sphingolipidoses...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28163853/bilateral-cryptorchidism-a-rare-presentation-for-persistent-m%C3%A3-llerian-duct-syndrome
#12
Abdullah Al-Faris, Mosleh Jabari, Mohammed Al-Sayed, Hassan Al-Shehri
Persistent Müllerian duct syndrome (PMDS) is a rare, sex-limited, autosomal recessive disorder representing male pseudo-hermaphroditism. It is observed in males with the presence of female reproductive organs such as the uterus, cervix, and bilateral fallopian tubes along with normally developed male reproductive organs. It generally occurs during embryogenesis due to mutation in anti-Müllerian hormone (AMH) gene, i.e., AMH gene or AMH receptor (AMHR2) gene. The present case reports a male infant with inflammation in the right groin who was admitted to Security Forces Hospital in 2015...
December 2016: Electronic Physician
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#13
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28142151/novel-amh-and-amhr2-mutations-in-two-egyptian-families-with-persistent-m%C3%A3-llerian-duct-syndrome
#14
Inas Mazen, Mona El-Gammal, Ken McElreavey, Aya Elaidy, Mohamed S Abdel-Hamid
Anti-müllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations in AMH and AMHR2 lead to the persistence of müllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype...
February 1, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28129957/splenogonadal-fusion-in-an-18-month-old
#15
J Preece, S Phillips, V Sorokin, D Herz
BACKGROUND: Splenogonadal fusion is rare abnormal congenital connection of splenic tissue and gonad. It commonly presents with either cryptorchidism or as a palpable mass. As a benign anomaly, orchiectomy is often unnecessary. Removal of the splenic component may be accomplished with preservation of the testicle. METHODS: An 18-month-old boy presented with right cryptorchidism and left retractile testicle. Laparoscopic examination found a viable right testicle, and a successful orchiopexy was performed...
January 16, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28104947/discontinuous-splenogonadal-fusion-diagnosed-on-computed-tomography
#16
Ravikanth Jakkani, Fayzah A Alhajri, Abdullattif Alteriki, Meshari F Almuteri, Reji P Athyal, Khaled Z Hashem
Splenogonadal fusion is a very rare congenital anomaly which often manifests as a scrotal mass and rarely as cryptorchidism. It can be of continuous and discontinuous type based on the presence of a band of connecting splenic tissue. We report a rare case of discontinuous type of splenogonadal fusion in an adolescent male presenting as cryptorchidism. We emphasize the computed tomographic findings, which helped us in preoperative diagnosis and aided in appropriate management.
October 2016: Indian Journal of Radiology & Imaging
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
#17
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
#18
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
#19
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
#20
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
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