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https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#1
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29019938/dmrtc2-pax7-brachyury-t-and-tert-are-implicated-in-male-germ-cell-development-following-curative-hormone-treatment-for-cryptorchidism-induced-infertility
#2
Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler, Faruk Hadziselimovic
Defective mini-puberty results in insufficient testosterone secretion that impairs the differentiation of gonocytes into dark-type (Ad) spermatogonia. The differentiation of gonocytes into Ad spermatogonia can be induced by administration of the gonadotropin-releasing hormone agonist, GnRHa (Buserelin, INN)). Nothing is known about the mechanism that underlies successful GnRHa treatment in the germ cells. Using RNA-sequencing of testicular biopsies, we recently examined RNA profiles of testes with and without GnRHa treatment...
October 11, 2017: Genes
https://www.readbyqxmd.com/read/28979012/focal-dermal-hypoplasia-goltz-syndrome-a-cross-sectional-study-from-eastern-india
#3
Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal
INTRODUCTION: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. METHOLOGY: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India...
September 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28974876/laparoscopy-in-the-evaluation-of-impalpable-testes-and-its-short-term-outcomes-a-7-years-experience
#4
Rajarshi Kumar, Kartik Chandra Mandal, Pankaj Halder, Md Hadiuzzaman, Madhumita Mukhopadhyay, Biswanath Mukhopadhyay
AIMS: The aim of this study is to report and analyze results of laparoscopy in impalpable testes performed between 2009 and 2016 and its short-term outcomes. MATERIALS AND METHODS: Demographic data, laterality, laparoscopic findings, operative time, procedure, hospital stay, complications, and follow-up data of 76 patients with 79 impalpable testes from 2009 to 2016 were retrospectively collected and analyzed. Successful outcome was defined as maintenance of intrascrotal position with no atrophy at a follow-up of at least 6 months...
October 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28901936/advances-in-paediatric-urology
#5
REVIEW
David A Diamond, Ivy H Y Chan, Andrew J A Holland, Michael P Kurtz, Caleb Nelson, Carlos R Estrada, Stuart Bauer, Paul K H Tam
Paediatric urological surgery is often required for managing congenital and acquired disorders of the genitourinary system. In this Series paper, we highlight advances in the surgical management of six paediatric urological disorders. The management of vesicoureteral reflux is evolving, with advocacy ranging from a less interventional assessment and antimicrobial prophylaxis to surgery including endoscopic injection of a bulking agent and minimally invasive ureteric reimplantation. Evidence supports early orchidopexy to improve fertility and reduce malignancy in boys with undescended testes...
September 9, 2017: Lancet
https://www.readbyqxmd.com/read/28876683/histological-evaluation-of-smooth-muscle-cell-in-the-patent-processus-vaginalis
#6
S M R Gilbert, K S Hamunyela
BACKGROUND: Inguinal hernia is a common pathology that necessitates surgical treatment during childhood. Most uncomplicated inguinal scrotal pathologies are considered to occur due to incomplete obliteration of the processes vaginalis (PV). The incomplete obliteration is proposed to be due to the persistence of smooth muscle cell (SMC) in the PV after birth. Immuno-histochemical studies have been published to evaluate the diversity and differentiation of SMC phenotypes in the PV resected in patients' inguinal hernia and hydrocele...
June 2017: South African Journal of Surgery. Suid-Afrikaanse Tydskrif Vir Chirurgie
https://www.readbyqxmd.com/read/28868229/a-very-unlikely-finding-in-a-male-child-urethral-prolapse
#7
Çiğdem Ulukaya Durakbaşa, Gonca Gercel, Murat Huseyin Mutus, Burhan Aksu, Seyma Ozkanli
Urethral prolapse is a disease of prepubertal black girls and postmenopausal women with an unknown cause. It may be congenital in origin or an acquired condition. It has never been reported in males. We report a 10-year-old Caucasian boy who presented because of recurrent right undescended testis. He had been operated on for bilateral undescended testes 7 years ago in another hospital, and circumcision was done during the same operation. The boy complained of a weak urinary stream during voiding. The physical examination was consistent with recurrent right undescended testis...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28860052/management-of-bilateral-undescended-bilobed-testes-and-review-of-the-literature
#8
Tal Cohen, Hannah Agard, Neel Parekh, Curtis Clark
Polyorchidism is a rare anomaly of testicular development. Particularly, a bilobed testis is an extremely rare congenital malformation, which is thought to be a variant expression of polyorchidism. Only 5 cases of bilobed testis have been reported in the literature to date. This report is of bilateral, undescended, bilobed testes in a 15-month-old boy who has multiple other malformations of possible genetic etiology.
August 30, 2017: Urology
https://www.readbyqxmd.com/read/28836968/infrarenal-high-intra-abdominal-testis-fusion-of-t2-weighted-and-diffusion-weighted-magnetic-resonance-images-and-pathological-findings
#9
Seiji Hoshi, Yuichi Sato, Junya Hata, Hidenori Akaihata, Soichiro Ogawa, Nobuhiro Haga, Yoshiyuki Kojima
BACKGROUND: Several recent reports have demonstrated that the preoperative sensitivity and accuracy of identifying and locating non-palpable testes increases with the use of conventional MRI, in addition to diffusion-weighted imaging (DWI). Therefore, pre-operative prediction of the presence and location of testes using imaging techniques may guide management of intra-abdominal testis. Fowler-Stephens orchiopexy is effective for treating patients with intra-abdominal testis; however, long-term testicular function after this procedure has not been clarified...
August 24, 2017: BMC Urology
https://www.readbyqxmd.com/read/28780301/prevalence-and-chronological-changes-of-testicular-microlithiasis-in-isolated-congenital-undescended-testes-operated-at-less-than-3-years-of-age
#10
Yoko Nishimura, Kimihiko Moriya, Michiko Nakamura, Mutsumi Nishida, Megumi Sato, Yusuke Kudo, Satomi Omotehara, Takahito Iwai, Yamato Wakabayashi, Yukiko Kanno, Takeya Kitta, Masafumi Kon, Nobuo Shinohara
OBJECTIVE: To clarify the prevalence and chronological changes of testicular microlithiasis in isolated congenital undescended testes, retrospective chart review was performed. METHODS: Among children with palpable isolated undescended testes who underwent orchiopexy at less than 3 years of age between January 2009 and May 2016, those who had preoperative testicular ultrasonography were enrolled. Testicular microlithiasis was classified as limited or classic. RESULTS: Sixty-five patients (54 unilateral undescended testes and 11 bilateral undescended testes) were enrolled...
August 2, 2017: Urology
https://www.readbyqxmd.com/read/28753808/undescended-testes-diagnostic-algorithm-and-treatment
#11
Bernhard Haid, Patrick Rein, Josef Oswald
Undescended testis persistently present at the 6th month of life in a term born boy should be treated, with the aim of bringing them to a scrotal position until the 12th month of life. Acquired undescended testes has to be looked for actively and treated at the earliest possible after diagnosis, that might be deferred due to a lack of attention and less access to a regular physical exam in older boys as opposed to infants.
June 3, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28698942/mri-of-the-scrotum-recommendations-of-the-esur-scrotal-and-penile-imaging-working-group
#12
Athina C Tsili, Michele Bertolotto, Ahmet Tuncay Turgut, Vikram Dogra, Simon Freeman, Laurence Rocher, Jane Belfield, Michal Studniarek, Alexandra Ntorkou, Lorenzo E Derchi, Raymond Oyen, Parvati Ramchandani, Mustafa Secil, Jonathan Richenberg
OBJECTIVES: The Scrotal and Penile Imaging Working Group (SPI-WG) appointed by the board of the European Society of Urogenital Radiology (ESUR) has produced recommendations for magnetic resonance imaging (MRI) of the scrotum. METHODS: The SPI-WG searched for original and review articles published before September 2016 using the Pubmed and Medline databases. Keywords used were 'magnetic resonance imaging', 'testis or testicle or testicular', 'scrotum', 'intratesticular', 'paratesticular', 'extratesticular' 'diffusion-weighted', 'dynamic MRI'...
July 11, 2017: European Radiology
https://www.readbyqxmd.com/read/28686324/demographics-and-co-occurring-conditions-in-a-clinic-based-cohort-with-down-syndrome-in-the-united-arab-emirates
#13
Jennifer Price Corder, Fatima Jaber Sehmi Al Ahbabi, Hind Saif Al Dhaheri, Fares Chedid
The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28637089/sperm-dna-damage-measured-by-sperm-chromatin-structure-assay-in-men-with-a-history-of-undescended-testes
#14
J van Brakel, M Dinkelman-Smit, S M P F de Muinck Keizer-Schrama, F W J Hazebroek, G R Dohle
The aim of this study was to compare sperm DNA damage between men with a history of congenital undescended testis (UDT) and men with a history of acquired UDT. A long-term follow-up study of men with previous UDT was performed. Fifty men with congenital UDT who had undergone orchiopexy at childhood age, 49 men with acquired UDT after a 'wait-and-see'-protocol (e.g. awaiting spontaneous descent until puberty and perform an orchiopexy in case of non-decent), and 22 healthy proven fertile men were included. The DNA fragmentation index (DFI) using sperm chromatin structure assay (SCSA) was used to express the level of sperm DNA damage...
June 21, 2017: Andrology
https://www.readbyqxmd.com/read/28617788/age-at-referral-for-undescended-testes-has-anything-changed-in-a-decade
#15
Mohit Bajaj, Vipul Upadhyay
AIM: Undescended testis (UDT) affects 1-6% of males and is one of the most common disorders in paediatric surgery.Updated consensus guidelines now recommend surgical management of UDT by 18 months. We compare the age at referral and subsequent timing of orchiopexy with data published from 1996-1998 at our institution, prior to the advent of updated guidelines. METHODS: A retrospective review of all patients undergoing an orchiopexy for UDT from 2014 to 2016 was conducted...
June 16, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28615391/practical-approach-to-evaluating-testicular-status-in-infants-and-children
#16
REVIEW
Elke E Mau, Michael P Leonard
OBJECTIVE: To review the differences between normal, retractile, ectopic, ascended, and undescended testes and to describe the optimal way to perform a testicular examination to distinguish one from the other, as well as to demonstrate that ultrasound imaging is not necessary and to clarify when to consider specialist referral. SOURCES OF INFORMATION: This paper is based on selected findings from a MEDLINE search on undescended testes and orchiopexy referrals, and on our experience at the Urology Clinic at the Children's Hospital of Eastern Ontario in Ottawa, including review of referrals to our clinic for undescended testes and the resultant findings of normal variants versus surgical cases...
June 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28589677/telehealth-in-paediatric-surgery-accuracy-of-clinical-decisions-made-by-videoconference
#17
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/28580040/pseudo-prune-belly-syndrome-diagnosis-revealed-by-imaging-a-case-report-and-brief-review
#18
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/28557710/a-case-control-study-of-maternal-polybrominated-diphenyl-ether-pbde-exposure-and-cryptorchidism-in-canadian-populations
#19
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/28542403/ghrelin-modulates-testicular-damage-in-a-cryptorchid-mouse-model
#20
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
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