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Cryptorchidism

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https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#1
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29163975/on-the-descent-of-the-epididymo-testicular-unit-cryptorchidism-and-prevention-of-infertility
#2
REVIEW
Faruk Hadziselimovic
This comprehensive review provides in-depth coverage of progress made in understanding the molecular mechanisms underlying cryptorchidism, a frequent pathology first described in about 1786 by John Hunter. The first part focuses on the physiology, embryology, and histology of epididymo-testicular descent. In the last 20 years epididymo-testicular descent has become the victim of schematic drawings with an unjustified rejection of valid histological data. This part also includes discussion on the roles of gonadotropin-releasing hormone, fibroblast growth factors, Müllerian inhibiting substance, androgens, inhibin B, and insulin-like 3 in epididymo-testicular descent...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29152312/a-4-year-study-of-the-proportional-distribution-of-male-reproductive-organ-abnormalities-in-cattle-slaughtered-at-nyagatare-abattoir-eastern-rwanda
#3
Erick Kandiwa, Leoncie Nyirakunzimana, Gervais Habarugira, Borden Mushonga, Alaster Samkange
Male reproductive performance has more impact on overall herd productivity than in the female. In order to assess herd productivity in cattle in Nyagatare, Eastern Rwanda, the proportional distribution of male reproductive organ abnormalities was investigated in 3087 bulls slaughtered over a 4-year period. The aim of the study was to investigate the proportional distribution of male reproductive organ abnormalities in exotic and indigenous bulls slaughtered over a 4-year period at Nyagatare abattoir in Eastern Rwanda...
November 2017: Veterinary Medicine and Science
https://www.readbyqxmd.com/read/29137935/prostatic-adenocarcinoma-in-the-setting-of-persistent-m%C3%A3-llerian-duct-syndrome-a-case-report
#4
Zulfia McCroskey, Tracie M Koen, David J Lim, Mukul K Divatia, Steven S Shen, Alberto G Ayala, Jae Y Ro
Persistent Müllerian Duct Syndrome (PMDS) is a form of disordered sex development in which rudimentary Müllerian structures are identified in phenotypically and genotypically normal males. It is caused by defects in the anti-Müllerian hormone (AMH) system. Since patients with PMDS present with undescended testes, testosterone production by Leydig cells later in life is often decreased. The role of androgens in prostate cancerogenesis is well known. Cryptorchid testes and diminished testosterone levels in post pubertal life in patients with PMDS play a protective role against prostate cancer, and hence, prostate cancer is a rare event in patients with PMDS...
November 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/29124248/circumcision-incision-orchidopexy-a-novel-technique-for-palpable-low-inguinal-undescended-testis
#5
Michael E Chua, Jan Michael A Silangcruz, Odina Gomez, Jun S Dy, Marcelino L Morales
Given that both orchidopexy and circumcision are commonly done in a single operative setting, we adopted a technique of combined orchidopexy and circumcision using a single circumcision incision. We applied this new technique to boys with palpable, low inguinal cryptorchidism. Here we describe a case series of 7 boys who underwent concurrent orchidopexy via the circumcision site. We present this novel technique and discuss our preliminary outcomes, including the anatomic basis and feasibility. The technique appears to be an alternative for concurrent circumcision and cryptorchid cases with palpable, low inguinal testes...
November 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/29112520/maternal-diabetes-mellitus-and-genital-anomalies-in-male-offspring-a-nationwide-cohort-study-in-two-nordic-countries
#6
Linn Håkonsen Arendt, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Sven Cnattingius, Gunnar Petersson, Erik Thorlund Parner, Cecilia Høst Ramlau-Hansen
BACKGROUND: Diabetes in pregnancy has been associated with an increased risk of congenital malformations overall, but studies on genital anomalies in boys are conflicting and possible causal mechanisms are not well understood. Previous studies have mainly assessed pre-gestational and gestational diabetes in combination. Yet considering the vulnerable time windows for the genital anomalies, associations could well differ between types of diabetes and between the two genital anomalies and we therefore aimed to study this further...
November 6, 2017: Epidemiology
https://www.readbyqxmd.com/read/29102298/orchidopexy-in-children-with-prader-willi-syndrome-results-of-a-long-term-follow-up-study
#7
Maurizio Pacilli, Yves Heloury, Mike O'Brien, Tess Lionti, Margaret Rowell, John Hutson
INTRODUCTION: Prader-Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86-100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children. STUDY DESIGN: A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed...
October 16, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29099758/the-hypothalamic-pituitary-axis-and-autoantibody-related-disorders
#8
REVIEW
Cristina Cocco, Carla Brancia, Giulia Corda, Gian-Luca Ferri
This review summarized different studies reporting the presence of autoantibodies reacting against cells of the pituitary (APAs) and/or hypothalamus (AHAs). Both APAs and AHAs have been revealed through immunofluorescence using different kinds of substrates. Autoantibodies against gonadotropic cells were mainly found in patients affected by cryptorchidism and hypogonadotropic hypogonadism while those against prolactin cells were found in different kinds of patients, the majority without pituitary abnormalities...
November 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29089662/morcellation-for-testes-extraction-in-horses-undergoing-standing-laparoscopic-cryptorchidectomy
#9
Lucas Nolazco Sassot, Claude A Ragle, Kelly D Farnsworth, Caleb M Lund
The major objective of this study was to describe the use of morcellation for standing laparoscopic cryptorchidectomy in 30 client-owned horses. A second objective was to describe a laparoscopic-assisted standing scrotal technique for removal of a descended testis in unilateral cryptorchids. Morcellation for extraction of abdominal testes is effective, efficient, and well-tolerated. Morcellation enabled safe and straightforward extraction of testes from the abdomen through an approximately 13- to 20-mm incision using a 2-portal technique...
November 2017: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/29080015/expression-of-xenobiotic-biomarkers-cyp1-family-in-preputial-tissue-of-patients-with-hypospadias-and-phimosis-and-its-association-with-dna-methylation-level-of-srd5a2-minimal-promoter
#10
Seiichiroh Ohsako, Toshiki Aiba, Mami Miyado, Maki Fukami, Tsutomu Ogata, Yutaro Hayashi, Kentaro Mizuno, Yoshiyuki Kojima
Several epidemiological studies have suggested that the incidence of male reproductive organ malformations, including hypospadias or cryptorchidism, has increased due to fetal-stage exposure to environmental pollutants. However, the association of chemical exposure with the expression of target regulatory genes in the tissues of patients has not yet been reported. Because experimental approaches or clinical trials in human studies are limited, especially those using fetal and/or infants, it is difficult to obtain clear physiological evidence of mechanisms underlying male reproductive malformations...
October 27, 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/29065375/cryptorchidism-and-increased-risk-of-neurodevelopmental-disorders
#11
Jianping Chen, Henrik Toft Sørensen, Maohua Miao, Hong Liang, Vera Ehrenstein, Ziliang Wang, Wei Yuan, Jiong Li
Male congenital malformations as cryptorchidism may contribute to the development of neurodevelopmental disorders directly or via shared familial genetic and/or environmental factors, but the evidence is sparse. Using population-based health registries, we conducted a cohort study of all liveborn singleton boys in Denmark during 1979-2008. Boys with a diagnosis of cryptorchidism were categorized into the exposed cohort and the other boys into the unexposed comparison cohort. The outcomes were diagnoses of any neurodevelopmental disorders and their subtypes...
October 13, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29061174/de-novo-chromosome-7q36-1q36-2-triplication-in-a-child-with-developmental-delay-growth-failure-distinctive-facial-features-and-multiple-congenital-anomalies-a-case-report
#12
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab
BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29055888/prenatal-exposure-to-glycol-ethers-and-cryptorchidism-and-hypospadias-a-nested-case-control-study
#13
Charline Warembourg, Jérémie Botton, Nathalie Lelong, Florence Rouget, Babak Khoshnood, Florent Le Gléau, Christine Monfort, Laurence Labat, Fabrice Pierre, Barbara Heude, Rémy Slama, Luc Multigner, Marie-Aline Charles, Sylvaine Cordier, Ronan Garlantézec
OBJECTIVES: Glycol ethers (GE) are oxygenated solvents frequently found in occupational and consumer products. Some of them are well-known testicular and developmental animal toxicants. This study aims to evaluate the risk of male genital anomalies in association with prenatal exposure to GE using urinary biomarkers of exposure. METHODS: We conducted a case-control study nested in two joint mother-child cohorts (5303 pregnant women). Cases of cryptorchidism and hypospadias were identified at birth and confirmed during a 2-year follow-up period (n=14 cryptorchidism and n=15 hypospadias)...
October 21, 2017: Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29045475/association-between-rna-binding-protein-ptbp2-and-germ-cell-injury-in-an-experimentally-induced-unilateral-cryptorchidism-murine-model
#14
Xianming Dou, Jingjing Gao, Pan Gao, Dongdong Tang, Dangwei Peng, Jun Mao, Zhenyu Huang, Peng Chen, He Chen, Shengwei Ke, Chaozhao Liang, Xiansheng Zhang
RNA binding protein polypyrimidine tract binding protein 2 (Ptbp2) as a key alternative splicing regulator for male germ cell development is well established. However, its expression levels and role in cryptorchidism testes tissues has not been explored. Additionally, the molecular mechanism of heat stress impacts the correct proliferation and differentiation of germ cells is unclear. To investigate whether changes in Ptbp2 expression are correlated with heat stress-induced germ cell injury in testicular tissue, we used a murine model of intraperitoneal cryptorchidism with surgical operation...
2017: PloS One
https://www.readbyqxmd.com/read/29044734/association-of-androgen-receptor-gene-cag-and-ggn-repeat-polymorphism-with-cryptorchidism-a-meta-analysis
#15
Qi Wang, Xing Ge, Heng-Xue Wang, Qiao-Mei Shi, Zhen Ding, Li-Chun Xu
Researches on association between variations in the androgen receptor (AR) gene repeat polymorphisms and cryptorchidism (CO) had conflicting results. The aim of this meta-analysis was to analyse the potential effects of AR CAG and/or GGN repeat polymorphism on CO. Studies were independently appraised by two investigators on PubMed, Web of Science, EBSCO databases and Foreign Medical Retrieval System. Case-control studies with measurement of CAG and/or GGN repeat length were included. Weighted mean difference (WMD) and 95% confidence intervals (CIs) for the CAG or GGN repeat polymorphism and CO were calculated...
October 18, 2017: Andrologia
https://www.readbyqxmd.com/read/29037749/psychopathological-features-in-noonan-syndrome
#16
Francesca Perrino, Serena Licchelli, Giulia Serra, Giorgia Piccini, Cristina Caciolo, Patrizio Pasqualetti, Flavia Cirillo, Chiara Leoni, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Paolo Alfieri, Stefano Vicari
INTRODUCTION: Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical and molecular diagnosis of NS...
September 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29032240/natural-history-and-conservative-treatment-outcomes-for-hydroceles-a-retrospective-review-of-one-center-s-experience
#17
Tuğba Acer-Demir, Berk Yasin Ekenci, Doğancan Özer, Mehmet Ali Turanoğlu, Kadem Cem Haberal, Elif Bengisu Bilgin, Akgün Hiçsönmez
OBJECTIVES: To elucidate epidemiological data and hydrocele progression, we reviewed pediatric patients diagnosed with hydroceles in our institution retrospectively. METHODS: We reviewed data from 355 pediatric patients with hydroceles. Questionnaires regarding age at diagnosis, time of delivery, presence of hydroceles in the father and brothers, age at recovery, age at surgery, cause of hydrocele (if present), type of hydrocele, associated pathologies, treatments, and post-hydrocelectomy complications were completed by reviewing patients' medical records and interviewing their families...
October 12, 2017: Urology
https://www.readbyqxmd.com/read/29029632/fatal-haemorrhage-and-neoplastic-thrombosis-in-a-captive-african-lion-panthera-leo-with-metastatic-testicular-sex-cord-stromal-tumour
#18
Omar Antonio Gonzales-Viera, Angélica María Sánchez-Sarmiento, Natália Coelho Couto de Azevedo Fernandes, Juliana Mariotti Guerra, Rodrigo Albergaria Ressio, José Luiz Catão-Dias
BACKGROUND: The study of neoplasia in wildlife species contributes to the understanding of cancer biology, management practices, and comparative pathology. Higher frequencies of neoplasms among captive non-domestic felids have been reported most commonly in aging individuals. However, testicular tumours have rarely been reported. This report describes a metastatic testicular sex cord-stromal tumour leading to fatal haemorrhage and thrombosis in a captive African lion (Panthera leo). CASE PRESENTATION: During necropsy of a 16-year-old male African lion, the left testicle and spermatic cord were found to be intra-abdominal (cryptorchid), semi-hard and grossly enlarged with multiple pale-yellow masses...
October 13, 2017: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/29026422/treatment-for-incarcerated-indirect-hernia-with-cross-internal-ring-inguinal-oblique-incision-in-children
#19
Xue-Qiang Yan, Jun Yang, Nan-Nan Zheng, Hou-Fang Kuang, Xu-Fei Duan, Hong-Qiang Bian
BACKGROUND: This study aims to evaluate the utility of the "Cross-Internal Ring" inguinal oblique incision for the surgical treatment of incarcerated indirect hernia (IIH) complicated with severe abdominal distension. MATERIALS AND METHODS: Patients of IIH complicated with severe abdominal distension were reviewed retrospectively. All patients received operation through the "Cross-Internal Ring" inguinal oblique incision. RESULTS: There were totally 13 patients were included, male to female ratio was 9-4...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/29026274/a-case-of-an-infant-with-congenital-combined-pituitary-hormone-deficiency-and-normalized-liver-histology-of-infantile-cholestasis-after-hormone-replacement-therapy
#20
Keisuke Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda, Yuichi Mushimoto, Yuki Hasegawa, Kazumichi Onigata, Koji Kumori, Noriyoshi Ishikawa, Riruke Maruyama, Tsuyoshi Sogo, Lynne Murphy, Takeshi Taketani
Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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