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https://www.readbyqxmd.com/read/29770905/congenital-grouped-albinotic-spots-of-the-retinal-pigment-epithelium-in-a-patient-with-hemihypertrophy-and-caf%C3%A3-au-lait-spots
#1
Eugenia C White, Jesse D Sengillo, Galaxy Y Cho, Mathieu F Bakhoum, Stephen H Tsang
PURPOSE: To describe the finding of circularly grouped hypomelanotic spots in the central macula of a patient with syndromic characteristics. METHODS: Case report of a patient with albinotic spots grouped within the macula, café au lait spots, and left-sided hemihypertrophy. RESULTS: A 15-year-old boy presented with hypomelanotic spots which were hyperautofluorescent on fundus autofluorescence imaging with no disruption of the retinal laminae or photoreceptor inner and outer segment (IS/OS) junction on spectral domain optical coherence tomography...
May 16, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29757721/spectrum-of-extratesticular-and-testicular-pathologic-conditions-at-scrotal-mr-imaging
#2
Pardeep K Mittal, Ahmed S Abdalla, Argha Chatterjee, Deborah A Baumgarten, Peter A Harri, Jay Patel, Courtney C Moreno, Helena Gabriel, Frank H Miller
Diagnostic workup of scrotal lesions should begin with a complete clinical history and physical examination, including analysis of risk factors such as family history of testicular cancer, personal history of tumor in the contralateral testis, and cryptorchidism, followed by imaging. Scrotal ultrasonography (US) with a combination of gray-scale and color Doppler techniques has been the first-line imaging modality for evaluation of testicular and extratesticular lesions because of its low cost, wide availability, and high diagnostic accuracy...
May 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29757668/a-case-of-parasitic-twinning-or-caudal-duplication-in-a-dog
#3
Janet A Grimes, Adrien-Maxence Hespel, Robert C Cole, A Ray Dillon
A 6 mo old 13.5 kg (29.7 lb) male intact American Staffordshire terrier was evaluated for a history of supernumerary pelvic limbs, with malodorous discharge from a supernumerary penis. Imaging (radiographs, abdominal ultrasound, and computed tomography with excretory urogram) showed a supernumerary pelvis with associated pelvic limbs, no osseous continuity with the primary spinal column, a colonic diverticulum extending to the supernumerary pelvis, an enlarged left kidney with a ureter connecting to a single bladder, right renal aplasia, a single descended testicle in the primary scrotum, an intra-abdominal cryptorchid testicle, and two unidentifiable soft tissue masses...
May 14, 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29752777/study-of-ras-mapk-pathway-gene-variants-in-chilean-patients-with-cryptorchidism
#4
F Rodríguez, C Vallejos, D Ponce, N Unanue, M I Hernández, S Célis, K Arcos, F Belmar, M T López, F Cassorla
Cryptorchidism is one of the most common congenital disorders in boys, and several genetic, hormonal, and environmental factors have been proposed as possible causes for this genitourinary defect. Genetic factors have been intensively searched, but relatively few pathogenic variants have been described. Cryptorchidism is a frequent finding in patients with RASopathies, a group of syndrome caused by mutations in genes of the Ras/MAPK pathway. Our aim was to determine whether patients with isolated cryptorchidism (IC) exhibit Ras/MAPK pathway gene variants associated with RASopathies...
May 11, 2018: Andrology
https://www.readbyqxmd.com/read/29751027/nationwide-increase-in-cryptorchidism-after-the-fukushima-nuclear-accident
#5
Kaori Murase, Joe Murase, Koji Machidori, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri
OBJECTIVE: To estimate the change of discharge rate after cryptorchidism surgery between pre- and post-disaster in Japan. Cryptorchidism cannot be diagnosed before birth and is not a factor that would influence a woman's decision to seek an abortion. Therefore, this disease is considered suitable for assessing how the Great East Japan Earthquake and subsequent the Fukushima Daiichi nuclear accident (2011) influenced congenital diseases. MATERIALS AND METHODS: We obtained cryptorchidism discharge data collected over six years from hospitals that were included in an impact assessment survey of the Diagnosis Procedure Combination (DPC survey) database in Japan and used these data to estimate the discharge rate after cryptorchidism surgery before and after the disaster...
May 8, 2018: Urology
https://www.readbyqxmd.com/read/29750004/testicular-microlithiasis-in-a-clinically-healthy-cynomolgus-monkey-macaca-fascicularis
#6
Norimitsu Shirai, Mark G Evans
The present article describes an occurrence of testicular microlithiasis in a cynomolgus monkey from a routine regulatory toxicology study. The monkey was from a negative control group. Microscopically, the lesion was characterized by multiple extracellular mineralized calculi within seminiferous tubular epithelia of both testes without any tissue reaction or abnormal condition such as cryptorchidism, testicular neoplasm, or hypogonadism. The present case is remarkable in that there is a paucity of reports on spontaneous testicular microlithiasis in nonhuman primates...
April 2018: Journal of Toxicologic Pathology
https://www.readbyqxmd.com/read/29740335/amniotic-fluid-insl3-measured-during-the-critical-time-window-in-human-pregnancy-relates-to-cryptorchidism-hypospadias-and-phthalate-load-a-large-case-control-study
#7
Ravinder Anand-Ivell, Arieh Cohen, Bent Nørgaard-Pedersen, Bo A G Jönsson, Jens-Peter Bonde, David M Hougaard, Christian H Lindh, Gunnar Toft, Morten S Lindhard, Richard Ivell
The period of the first to second trimester transition in human pregnancy represents a sensitive window for fetal organogenesis, particularly in regard to the development of the male reproductive system. This is a time of relative analytical inaccessibility. We have used a large national biobank of amniotic fluid samples collected at routine amniocentesis to determine the impacts of exogenous endocrine disruptor load on specific fetal biomarkers at this critical time. While adrenal and testicular steroids are highly correlated, they are also mostly positively influenced by increasing phthalate load, represented by the metabolites 7cx-MMeHP and 5cx-MEPP, by perfluorooctane sulfonate (PFOS) exposure, and by smoking, suggesting an adrenal stress response...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29739453/spontaneous-renal-hemorrhage-secondary-to-choriocarcinoma-in-a-man-with-congenital-hypospadias-and-cryptorchidism-a-case-report-and-literature-review
#8
Yi Li, Gang Chen, Han Chen, Shuang Wen, Chao-Yu Xiong, Zi-Yi Yang, Yun-Xiao Zhu, Nathan Jeffreys
BACKGROUND: Choriocarcinoma is a rare malignant germ-cell tumour, most commonly found in adult women. It infrequently presents as spontaneous renal haemorrhage (SRH). Genital malformation and SRH secondary to choriocarcinoma has previously been only reported in females. We present what we believe to be the first case of a male patient with genital malformation (hypospadias and cryptorchidism) and SRH at presentation of choriocarcinoma. CASE PRESENTATION: A 25-year-old man presented to the department with intense pain in the right flank region and lower back...
May 8, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29735702/high-mobility-group-a2-hmga2-deficiency-in-pigs-leads-to-dwarfism-abnormal-fetal-resource-allocation-and-cryptorchidism
#9
Jaewook Chung, Xia Zhang, Bruce Collins, Renan B Sper, Katherine Gleason, Sean Simpson, Sehwon Koh, Jeffrey Sommer, William L Flowers, Robert M Petters, Jorge A Piedrahita
Expression of HMGA2 is strongly associated with body size and growth in mice and humans. In mice, inactivation of one or both alleles of Hmga2 results in body-size reductions of 20% and 60%, respectively. In humans, microdeletions involving the HMGA2 locus result in short stature, suggesting the function of the HMGA2 protein is conserved among mammals. To test this hypothesis, we generated HMGA2-deficient pigs via gene editing and somatic cell nuclear transfer (SCNT). Examination of growth parameters revealed that HMGA2 -/+ male and female pigs were on average 20% lighter and smaller than HMGA2 +/+ matched controls ( P < 0...
May 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29726661/-micro-dissection-testicular-sperm-extraction-for-patients-with-non-obstructive-azoospermia-a-report-of-196-cases
#10
Jing Zhang, Gui-Hua Liu, Lu-Gang Zhao, Xiao-Yan Liang, Zhong-Yang Wang
Objective: To investigate the effect of micro-dissection testicular sperm extraction (microTESE) for patients with non-obstructive azoospermia (NOA) and the indications of the strategy. METHODS: This retrospective study included 196 cases of NOA undergoing microTESE in our center from September 2014 to March 2017. We recorded the sperm retrieval rate (SRR) and analyzed its correlation with the patients' age, testis volume, level of blood follicle-stimulating hormone (FSH), and etiological factors...
September 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29726646/-orchidopexy-increases-the-levels-of-serum-anti-m%C3%A3-llerian-hormone-and-inhibin-b-in-cryptorchidism-patients
#11
Shun-Shun Cao, Yang-Yang Hu, Cun-Jin Nan
Objective: To investigate the levels of serum anti-Müllerian hormone (AMH) and inhibin B (INHB) in patients with unilateral cryptorchidism before and after orchidopexy. METHODS: This study included 58 cases of unilateral cryptorchidism treated by orchidopexy and 32 healthy controls. Before and at 6 months after surgery, we measured the length and circumference of the penis, the volume of the undescended testis, and levels of serum AMH and INHB. RESULTS: There were statistically significant differences between the unilateral cryptorchidism and healthy control groups in the levels of serum AMH ([102...
August 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29714466/the-relation-between-isolated-micropenis-in-childhood-with-cag-and-ggn-repeat-polymorphisms-in-the-androgen-receptor-gene
#12
Esra Tuğ, Sezen Güntekin Ergün, Mehmet Ali Ergün, Fatma Nihal Dilek, Emriye Ferda Perçin
Background/aim: In micropenis cases accompanied by external genital abnormalities such as hypospadias and cryptorchidism, infertility and spermatogenic failures have been reported to correlate with androgen receptor ( AR ) gene CAG and GGN repeat polymorphisms. While there is one study on isolated micropenis and CAG repeats, no study related to GGN repeats has been reported. We investigated the relation between CAG and GGN repeats in the AR gene with development of penis length in boys with isolated micropenis...
April 30, 2018: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29713311/cryptorchidism-in-boys-with-cerebral-palsy-is-associated-with-the-severity-of-disease-and-with-co-occurrence-of-other-congenital-anomalies
#13
Julia Spencer Barthold, Anton Wintner, Jennifer A Hagerty, Kenneth J Rogers, Md Jobayer Hossain
Background: Cryptorchidism is reported in 40-50% of small case series of cerebral palsy (CP) and attributed to hypothalamic-pituitary-gonadal axis abnormalities, intellectual disability (ID), or cremaster spasticity. We collected demographic and clinical data to define the frequency of cryptorchidism and clinical comorbidities in a large CP population. Methods: Electronic health record data were collected for all male patients ≥7 years of age seen in a large, multidisciplinary CP clinic between 2000 and 2016...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29706444/impaired-serum-inhibin-b-and-number-of-germ-cells-in-boys-with-cryptorchidism-following-heavily-gestational-maternal-smoking
#14
Simone Hildorf, Erik Clasen-Linde, Lihua Dong, Dina Cortes, Jorgen Thorup
PURPOSE: A meta-analysis including 11,900 cases showed that maternal gestational smoking was associated with increased risk of cryptorchidism. The aim of study was to investigate whether a hormone profile of cryptorchid boys and a supplementing histopathological evaluation of testicular biopsies could add detailed knowledge to the impact of maternal gestational smoking on pathogenesis of cryptorchidism. METHODS: 601 cryptorchid boys aged 4 months to 14 years old were included...
April 5, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29700810/refining-the-phenotype-associated-with-biallelic-dnajc21-mutations
#15
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard, E Lemyre, J L Michaud, V-A Pelletier, Y D Pastore, J-F Soucy
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of five unreported affected children and all individuals reported in the literature...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29692900/a-case-of-kallmann-syndrome-associated-with-a-non-functional-pituitary-microadenoma
#16
Taieb Ach, Hela Marmouch, Dorra Elguiche, Asma Achour, Hajer Marzouk, Hanene Sayadi, Ines Khochtali, Mondher Golli
Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented with eunuchoid body proportions, absence of facial, axillary and pubic hair, micropenis and surgically corrected cryptorchidism. Associated findings included anosmia. Karyotype was 46XY and hormonal measurement hypogonadotropic hypogonadism. MRI of the brain showed bilateral agenesis of the olfactory bulbs and 3...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29678567/germ-cell-specific-apoptosis-by-extracellular-clusterin-in-cryptorchid-dog-testes
#17
Hyunjhung Jhun, Hyun-Jung Park, Ran Lee, Hyuk Song, Tai-Young Hur, Seunghoon Lee, Jin-Ki Park, Won-Young Lee
Mammalian testes are maintained at a relatively lesser temperature than the abdominal region so that normal spermatogenesis can occur. Germ cell apoptosis has resulted in heat-damaged testes that occurs as a result of cryptorchidism, but the mechanism is not yet fully understood. To elucidate the cause of germ-cell death by cryptorchidism, cryptorchidism was surgically induced in dog testes and histological and molecular analyses were performed. Histological data indicated that the seminiferous tubules of cryptorchid testes and epididymis contained fewer germ cells...
April 13, 2018: Animal Reproduction Science
https://www.readbyqxmd.com/read/29674406/spontaneous-rupture-of-seminoma-in-undescended-testis-with-hemoperitoneum-a-rare-presentation
#18
Deepak Kumar Diwakar, Nikita Wadhwani, Ravi Shekhar Pradhan, Ravi Prakash Verma
Cryptorchidism is associated with increased risk of malignancy and infertility. We present a case of a 30-year-old man who presented to the Emergency Department of our tertiary care hospital with spontaneous intra-abdominal rupture of the seminoma in undescended testis with hemoperitoneum. This is a rare presentation of seminoma and emphasises the importance of scrotal examination in young men presenting with acute abdomen. Surgical management is the definitive treatment and should be instituted as soon as possible, after appropriate resuscitation...
April 19, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29671528/testicular-cancer-diagnosis-and-treatment
#19
Drew C Baird, Garrett J Meyers, Jocelyn S Hu
Testicular cancer is the most common solid tumor among males 15 to 34 years of age, with an estimated 8,850 new cases and 410 deaths during 2017 in the United States. With effective treatment, the overall five-year survival rate is 97%. Risk factors for testicular cancer include undescended testis (cryptorchidism), personal or family history of testicular cancer, age, ethnicity, and infertility. The U.S. Preventive Services Task Force recommends against routine screening in asymptomatic men. Men with symptoms should receive a complete history and physical examination...
February 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29653441/the-impact-of-groin-surgery-during-childhood-on-the-incidence-of-inguinal-hernia-repair-and-its-postoperative-complications-in-adult-life
#20
Arestis Sokratous, Johanna Österberg, Gabriel Sandblom
BACKGROUND:  Pediatric inguinal hernia, hydrocele, and cryptorchidism are common congenital anomalies affecting children, and require surgical intervention in some cases. The association between surgical treatment of these conditions and acquired inguinal hernia later in life is poorly understood. The aim of this cohort study was to examine the effect of groin surgery during childhood on the incidence and surgical outcome of inguinal hernia repair in adult life. MATERIALS AND METHODS:  Data from the Swedish Inpatient Register and the Swedish Hernia Register were cross-linked using the patient personal identity numbers...
April 13, 2018: European Journal of Pediatric Surgery
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