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Yanping Wang, Jin Li, Thomas F Kolon, Alicia Olivant Fisher, T Ernesto Figueroa, Ahmad H BaniHani, Jennifer A Hagerty, Ricardo Gonzalez, Paul H Noh, Rosetta M Chiavacci, Kisha R Harden, Debra J Abrams, Deborah Stabley, Cecilia E Kim, Katia Sol-Church, Hakon Hakonarson, Marcella Devoto, Julia Spencer Barthold
BACKGROUND: Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian population. METHODS: Genome wide genotyping were performed in 559 cases and 1772 controls (Group 1) using Illumina HumanHap550 v1, HumanHap550 v3 or Human610-Quad platforms and in 353 cases and 1149 controls (Group 2) using the Illumina Human OmniExpress 12v1 or Human OmniExpress 12v1-1...
October 21, 2016: BMC Urology
Mario Montanino Oliva, Elisa Minutolo, Assunta Lippa, Paola Iaconianni, Alberto Vaiarelli
This prospective longitudinal study investigated the effects of a dietary supplement in patients affected by reduced sperm motility (asthenospermic males) with metabolic syndrome. The product tested was Andrositol®, which contains myoinositol (MI) as principal compound, in association with other molecules, and the parameters evaluated were semen characteristics as well as hormone and metabolic profiles. The inclusion criteria were subjects aged over 18 years, with asthenospermia and metabolic syndrome. The exclusion criteria were presence of cryptorchidism, varicocele, and prostatitis...
2016: International Journal of Endocrinology
Furan Wang, Hongji Zhong, Junfeng Zhao
INTRODUCTION: Ascending testis (AT) is a rare complication after repair of an inguinal hernia/hydrocele. However, there has been some controversy concerning the AT following laparoscopic and open procedures. OBJECTIVE: To review the experience of, and discuss the associated mechanisms with, testicular ascent after pediatric inguinal hernia/hydrocele surgery. STUDY DESIGN: A retrospective review of the medical records of male children who underwent inguinal hernia/hydrocele repair at the present hospital between January 2000 and December 2014...
September 28, 2016: Journal of Pediatric Urology
Anthony N J Claes, Barry A Ball
Anti-Müllerian hormone (AMH) plays a major role in sexual differentiation, Leydig cell differentiation, and folliculogenesis. In addition, AMH has clinical value in equine practice. In stallions, AMH can serve as an endocrine marker for equine cryptorchidism and as an immunohistochemical marker for Sertoli cell tumors. Considering that AMH is also an ovarian specific product, intact mares can be differentiated from ovariectomized mares. Peripheral AMH concentrations reflect the follicular population in mares, and therefore, are useful in the assessment of ovarian reserve and reproductive life-span of aged mares...
October 8, 2016: Veterinary Clinics of North America. Equine Practice
Jorgen Thorup
No abstract text is available yet for this article.
October 2016: European Journal of Pediatric Surgery
Kristin D Kernohan, Arran McBride, Yanwei Xi, Nicole Martin, Jeremy Schwartzentruber, David A Dyment, Jacek Majewski, Susan Blaser, Kym M Boycott, David Chitayat
Post translational protein modifications exponentially expand the functional complement of proteins encoded by the human genome. One such modification is the covalent addition of a methyl group to arginine or lysine residues, which is used to regulate a substantial proportion of the proteome. Arginine and lysine methylation are catalyzed by protein arginine methyltransferase (PRMTs) and protein lysine methyltransferase proteins (PKMTs), respectively; each methyltransferase has a specific set of target substrates...
October 8, 2016: Clinical Genetics
Dragos Scarlet, Christine Aurich, Natascha Ille, Ingrid Walter, Corinna Weber, Dagmar Pieler, Walter Peinhopf, Peter Wohlsein, Jörg Aurich
Eight-week-old calves were either castrated by partial scrotal resection (SR) without removing the testes (n = 10), Burdizzo (BZ) clamp (n = 10), orchidectomy (OR; n = 10), or were left gonad intact as controls (CO; n = 10). Concentrations of anti-Muellerian hormone (AMH), inhibin A, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) in plasma were determined from 16 to 48 weeks of age. At 18 months, testes of SR, BZ, and CO bulls were obtained and the immunolocalization of LH and FSH receptors and AMH analyzed...
September 7, 2016: Theriogenology
Warren G Foster, Jane A Evans, Julian Little, Laura Arbour, Aideen Moore, Reg Sauve, Juan Andrés León, Wei Luo
Congenital anomalies are an important cause of infant mortality and disability. Developmental exposure to environmental contaminants is thought to increase the risk for congenital anomalies. Herein, we describe a critical review of the literature conducted between February and March 2014 yielding 3057 references from which 97 unique relevant articles published from 2003 through 2014 were evaluated. Common congenital anomalies including hypospadias, cryptorchidism, anogenital distance (AGD), congenital heart defects and oral clefts were well represented in the literature whereas other outcomes such as neural tube defects, limb deficiency defects and gastroschisis were rarely described...
August 11, 2016: Critical Reviews in Toxicology
Y Qian, L Hong, Y H Chen, W L Ge, Q Y Yin, H Xian
Objective: To study the mRNA and protein expression of aldehyde dehydrogenase 1A1(ALDH1A1)in rat cryptorchidism and normal testis. Methods: We established the cryptorchidism model by flutamide and took normal testis as normal group.The testicular tissue samples were collected on 15 days, 45 days, and 90 days after birth respectively.The expression of ALDH1A1 in rat cryptorchidism and normal testis were investigated by real-time PCR, Western blot and immunohistochemisty intissue microarray. Results: The mRNA expression of ALDH1A1 in cryptorchidism group in infant, adolescent and adult period were 1...
September 13, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Desmaré van Rooyen, Therina du Toit, Renate Louw-du Toit, Donita Africander, Pieter Swart, Amanda C Swart
16α-hydroxyprogesterone (16OHP4) is not well characterised in terms of metabolism and receptor interaction. We therefore investigated its metabolism by adrenal CYP11B and peripheral steroidogenic enzymes, SRD5A and AKR1C2. UHPLC-MS/MS analyses identified novel steroids: the biosynthesis of 4-pregnen-11β,16α-diol-3,20-dione catalysed by CYP11B2; the 5α-reduction of the latter and 16OHP4 catalysed by SRD5A yielding 5α-pregnan-11β,16α-diol-3,20-diovne and 5α-pregnan-16α-ol-3,20-dione (16OH-DHP4); and 16OH-DHP4 converted by AKR1C2 to 5α-pregnan-3α,16α-diol-20-one...
September 21, 2016: Molecular and Cellular Endocrinology
Dina Cortes, Rune Holt, Victoria Elizabeth de Knegt
A normal functioning hypothalamic-pituitary-testicular axis is required for normal testicular descent. The percentage of cases that result from a disturbance in this axis remains controversial. Much has yet to be learnt about cryptorchidism, but is seems that the existence of A dark spermatogonia (Ad spermatogonia) is essential for later fertility. Bilateral cryptorchid patients have a high risk of later infertility, even though they undergo early surgery for cryptorchidism. It is possible today to distinguish-to a certain extent-between three different groups of cryptorchid patients based on testicular histology, gonadotropins, and inhibin B at the time of early surgery: Group 1, patients suspected of prepubertal transient hypothalamic-pituitary-testicular hypofunction and a high risk of later infertility; Group 2, patients with hypergonadotropic hypogonadism and a primary testicular dysfunction; and Group 3, patients with normal histology and normal serum levels of inhibin B and gonadotropins at the time of early surgery and a low risk of later infertility...
October 2016: European Journal of Pediatric Surgery
Julia Spencer Barthold, Susanne Reinhardt, Jorgen Thorup
Unilateral or bilateral cryptorchidism is an isolated anomaly in the majority of cases, with evidence to date suggesting that it is a complex disorder resulting from interactions between genetic and environmental factors. Population, family, and limited genome-wide association data suggest moderate genetic risk, multiple susceptibility loci, and a role for the maternal environment. Epidemiologic studies have identified low birth weight or intrauterine growth retardation as factors most strongly associated with cryptorchidism, with additional evidence suggesting that maternal smoking and gestational diabetes increase risk...
October 2016: European Journal of Pediatric Surgery
Richard G Lea, Andrew S Byers, Rebecca N Sumner, Stewart M Rhind, Zulin Zhang, Sarah L Freeman, Rachel Moxon, Holly M Richardson, Martin Green, Jim Craigon, Gary C W England
No abstract text is available yet for this article.
2016: Scientific Reports
Lene Osterballe, Erik Clasen-Linde, Dina Cortes, Gerda Engholm, Rasmus Hertzum-Larsen, Susanne Reinhardt, Jorgen Thorup
INTRODUCTION: Cryptorchidism is a risk factor for testicular cancer in adult life. It remains unclear how prepubertal surgery for cryptorchidism impacts later development of adult testicular cancer. The aim of study was to investigate tools to identify the cryptorchid boys who later develop testicular cancer. METHODS: The study cohort consisted of 1403 men operated prepubertally/pubertally for undescended testis between 1971 and 2003. At surgery testicular biopsies were taken from the cryptorchid testes...
August 27, 2016: Journal of Pediatric Surgery
B G Fisher, A Thankamony, I A Hughes, K K Ong, D B Dunger, C L Acerini
STUDY QUESTION: What is the relationship between maternal paracetamol intake during the masculinisation programming window (MPW, 8-14 weeks of gestation) and male infant anogenital distance (AGD), a biomarker for androgen action during the MPW? SUMMARY ANSWER: Intrauterine paracetamol exposure during 8-14 weeks of gestation is associated with shorter AGD from birth to 24 months of age. WHAT IS ALREADY KNOWN: The increasing prevalence of male reproductive disorders may reflect environmental influences on foetal testicular development during the MPW...
September 8, 2016: Human Reproduction
Jorgen Thorup, Erik Clasen-Linde, Dina Cortes
Introduction Intratubular germ cell neoplasia (ITGCN) is a precursor to testicular germ cell cancer. Adult germ cell cancer immunohistochemical markers may fail to detect ITGCN in prepubertal boys with congenital cryptorchidism, because positive immunohistochemistry is commonly seen in boys younger than the age of 2 years, where most orchiopexies are performed. The aim of the study was to evaluate the diagnostic challenge to differentiate between a histological pattern of ITGCN and a histological pattern with some atypical germ cells and all positive cancer immunohistochemical markers, but no increased risk of malignancy...
September 8, 2016: European Journal of Pediatric Surgery
Young Dong Yu, Young Kwon Hong
Introduction and Aims. Congenital absence of the vas deferens is an uncommon anomaly and this clinical condition is responsible for up to 1-2% of male infertility. It can be either unilateral or bilateral and the associated anomalies include cryptorchidism, seminal vesicles and ejaculatory ducts anomalies, and renal anomalies such as renal agenesis. We hereby present a case of congenital unilateral absence of vas deferens, which was found incidentally during an evaluation of undescended testis in a patient with ipsilateral renal agenesis...
2016: Case Reports in Urology
Jorgen Thorup, Dina Cortes
When considering long-term prognosis and results in adult age following treatment of cryptorchidism in childhood there are three main issues to be discussed: cosmetics, fertility, and malignancy. In the present review, the most recent research on the topics related to summaries of well-known knowledge on the field is presented.To some extent a smaller testis in a higher scrotal position than normal must be accepted as a fair cosmetic result after orchidopexy in childhood. The smaller testis size is related to the impaired fertility potential of the testis...
October 2016: European Journal of Pediatric Surgery
Alex Muturi, Vihar Kotecha, Cynthia Ojee, Desmond Mang'oka, John Muthuri
BACKGROUND: Inflammatory pseudotumour refers to a non-malignant tumour-like mass resulting from an inflammatory reaction that is composed of granulation tissue with leukocyte infiltration that commonly occurs in the paediatric or young adult population. These tumours occur more commonly in the lungs and the orbit but rarely does it affect the gastrointestinal tract. It poses a clinical diagnostic challenge since it is a benign condition than can mimic the malignant counterpart. Our case is a rare presentation of the caecal pseudotumour in the presence of a right undescended abdominal testis evaluated as a caecal tumour with a differential diagnosis of a testicular malignancy...
2016: World Journal of Surgical Oncology
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