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Cryptorchidism

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https://www.readbyqxmd.com/read/28449295/kbg-syndrome-an-australian-experience
#1
Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin, Himanshu Goel
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. Consistent features included intellectual disability, macrodontia, and the characteristic broad forehead with hypertelorism, and a prominent nasal bridge. Common features included hand anomalies, cryptorchidism, and a large number of palate abnormalities...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28439006/murine-model-indicates-22q11-2-signaling-adaptor-crkl-is-a-dosage-sensitive-regulator-of-genitourinary-development
#2
Meade Haller, Qianxing Mo, Akira Imamoto, Dolores J Lamb
The spectrum of congenital anomalies affecting either the upper tract (kidneys and ureters) or lower tract (reproductive organs) of the genitourinary (GU) system are fundamentally linked by the developmental origin of multiple GU tissues, including the kidneys, gonads, and reproductive ductal systems: the intermediate mesoderm. Although ∼31% of DiGeorge/del22q11.2 syndrome patients exhibit GU defects, little focus has been placed on the molecular etiology of GU defects in this syndrome. Among del22q11.2 patients exhibiting GU anomalies, we have mapped the smallest relevant region to only five genes, including CRKLCRKL encodes a src-homology adaptor protein implicated in mediating tyrosine kinase signaling, and is expressed in the developing GU-tract in mice and humans...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28434984/the-nonpalpable-testis-a-narrative-review
#3
REVIEW
Courtney L Shepard, Kate H Kraft
PURPOSE: While the nonpalpable testis represents only a small portion of all cryptorchid testes, it remains a clinical challenge for pediatric urologists. Many controversies about the best evaluation and management exist. This narrative review serves as an update on what is known about the nonpalpable testis: etiology, pre-operative evaluation, the best surgical management, novel techniques, and ongoing controversies. MATERIALS AND METHODS: A Pubmed® and MEDLINE® search limited to January 2000 to January 2017 was performed using relevant key terms...
April 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28432720/androgen-receptor-dysfunction-as-a-prevalent-manifestation-in-young-male-carriers-of-a-flna-gene-mutation
#4
Laura Carrera-García, Maximiliano Francisco Rivas-Crespo, María Soledad Fernández García
Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impairment causes diverse blockage degrees of androgenic steroid action, known as androgen insensitivity syndromes. Filamin A, a protein coded by the FLNA gene, is a co-activator of various cytoplasmic factors, including AR. The mutational inactivation of the FLNA gene induces insufficiency of translocation and activation of AR...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28408128/health-disparities-in-the-appropriate-management-of-cryptorchidism
#5
Kate B Savoie, Marielena Bachier-Rodriguez, Elleson Schurtz, Elizabeth A Tolley, Dana Giel, Alexander Feliz
OBJECTIVE: To assess regional practices in management of cryptorchidism with regard to timely fixation by the current recommended age of 18 months. STUDY DESIGN: A retrospective study was performed. Charts of all patients who underwent surgical correction for cryptorchidism by a pediatric general surgeon or urologist within a tertiary pediatric hospital in an urban setting were systematically reviewed. RESULTS: We identified 1209 patients with cryptorchidism...
April 10, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28403078/renal-dysplasia-characterized-by-prominent-cartilaginous-metaplasia-lesions-in-vacterl-association-a-case-report
#6
Takeo Nakaya, Taiju Hyuga, Yukichi Tanaka, Shina Kawai, Hideo Nakai, Toshiro Niki, Akira Tanaka
BACKGROUND: Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28402530/mutations-in-the-human-robo1-gene-in-pituitary-stalk-interruption-syndrome
#7
Anu Bashamboo, Joelle Bignon-Topalovic, Nasser Moussi, Ken McElreavey, Raja Brauner
Context: Pituitary stalk interruption syndrome (PSIS) is characterised by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure or combined pituitary hormone deficiencies. Although genetic causes have been identified, they explain only around 5% of PSIS cases. Objective: To identify genetic causes of PSIS by exome sequencing...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28392474/novel-fsh%C3%AE-mutation-in-a-male-patient-with-isolated-fsh-deficiency-and-infertility
#8
Junjie Zheng, Jangfeng Mao, Mingxuan Cui, Zhaoxiang Liu, Xi Wang, Shuyu Xiong, Min Nie, Xueyan Wu
Isolated follicle stimulating hormone (FSH) deficiency due to mutations in FSHβ is an extremely rare autosomal recessive disease that has only been reported in ten patients to date. Symptoms of the disease include amenorrhoea and hypogonadism in women and azoospermia and normal testosterone levels in men. This study describes a Chinese male patient who presented with cryptorchidism and infertility. His serum hormonal profile revealed low FSH, elevated LH and normal testosterone levels. Sequence analysis identified a novel homozygous mutation in the FSHβ gene (c...
April 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28389750/the-role-of-heat-shock-factors-in-mammalian-spermatogenesis
#9
Wieslawa Widlak, Natalia Vydra
Heat shock transcription factors (HSFs), as regulators of heat shock proteins (HSPs) expression, are well known for their cytoprotective functions during cellular stress. They also play important yet less recognized roles in gametogenesis. All HSF family members are expressed during mammalian spermatogenesis, mainly in spermatocytes and round spermatids which are characterized by extensive chromatin remodeling. Different HSFs could cooperate to maintain proper spermatogenesis. Cooperation of HSF1 and HSF2 is especially well established since their double knockout results in meiosis arrest, spermatocyte apoptosis, and male infertility...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28383690/semen-quality-of-young-men-from-the-general-population-in-baltic-countries
#10
Juris Erenpreiss, Margus Punab, Birute Zilaitiene, Solveiga Hlevicka, Pawel Zayakin, Valentinas Matulevicius, Romualdas Tomas Preiksa, Niels Jørgensen
STUDY QUESTION: What are the parameters of semen quality in Baltic men? SUMMARY ANSWER: Combined parameters of sperm concentration, motility and morphology revealed that 11-15% of men had low semen quality, 37-50% intermediate and 38-52% high semen quality. WHAT IS KNOWN ALREADY: Previous studies have revealed regional differences in semen parameters, and semen quality of Baltic men has been suggested to be better than that of other European men...
April 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28371217/inherited-germline-atrx-mutation-in-two-brothers-with-atr-x-syndrome-and-osteosarcoma
#11
Jianling Ji, Catherine Quindipan, David Parham, Lishuang Shen, David Ruble, Moiz Bootwalla, Dennis T Maglinte, Xiaowu Gai, Sulagna C Saitta, Jaclyn A Biegel, Leo Mascarenhas
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother and both parents) was performed and a nonsense NM_000489.4:c.7156C>T (p.Arg2386*) mutation in the ATRX gene was identified in the proband (hemizygous) and in the mother's peripheral blood DNA (heterozygous). The mother is healthy, does not exhibit any clinical manifestations of ATR-X syndrome and there was no family history of cancer...
March 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28352662/experimentally-induced-testicular-dysgenesis-syndrome-originates-in-the-masculinization-programming-window
#12
Sander van den Driesche, Karen R Kilcoyne, Ida Wagner, Diane Rebourcet, Ashley Boyle, Rod Mitchell, Chris McKinnell, Sheila Macpherson, Roland Donat, Chitranjan J Shukla, Anne Jorgensen, Ewa Rajpert-De Meyts, Niels E Skakkebaek, Richard M Sharpe
The testicular dysgenesis syndrome (TDS) hypothesis, which proposes that common reproductive disorders of newborn and adult human males may have a common fetal origin, is largely untested. We tested this hypothesis using a rat model involving gestational exposure to dibutyl phthalate (DBP), which suppresses testosterone production by the fetal testis. We evaluated if induction of TDS via testosterone suppression is restricted to the "masculinization programming window" (MPW), as indicated by reduction in anogenital distance (AGD)...
March 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28351651/a-population-based-study-of-prevalence-trends-and-geospatial-analysis-of-hypospadias-and-cryptorchidism-compared-with-non-endocrine-mediated-congenital-anomalies
#13
Ciaran Lane, James Boxall, Dawn MacLellan, Peter A Anderson, Linda Dodds, Rodrigo L P Romao
INTRODUCTION: Several reports have suggested an increase in the prevalence of hypospadias and cryptorchidism over the last few decades. Endocrine disruption caused by exposure to environmental chemicals has been postulated as a possible cause. OBJECTIVES: The objectives of our study were: 1) to determine whether the prevalence of hypospadias and cryptorchidism is increasing compared with other congenital anomalies not known to be mediated by endocrine factors; and 2) to perform a geospatial analysis of these congenital malformations looking for clustering that could offer insight into environmental risk factors...
March 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#14
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333256/analgesia-use-during-pregnancy-and-risk-of-cryptorchidism-a-systematic-review-and-meta-analysis
#15
Jason Gurney, Lorenzo Richiardi, Katherine A McGlynn, Virginia Signal, Diana Sarfati
STUDY QUESTION: Are boys who are born to mothers who use analgesics during pregnancy at increased risk of cryptorchidism compared to those born to mothers who do not take analgesia? SUMMARY ANSWER: In this systematic review and meta-analysis of 10 published studies, we observed only weak evidence of an association between analgesia use during pregnancy and risk of cryptorchidism in the son. WHAT IS KNOWN ALREADY: Concentrations of analgesia relevant to human exposure have been implicated as causing endocrine disturbances in the developing foetal testis...
May 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28331809/persistent-mullerian-duct-syndrome-presenting-in-an-incarcerated-recurrent-inguinal-hernia-with-hydrocele
#16
Lauren Pulido, Gosta Iwasiuk, Michael Sparkuhl, Dang Bui, Haley Springs
Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair. A 49-year-old man presented to the clinic for recurrent inguinal hernia with enlarging left scrotum consistent with hydrocele on imaging. Upon exploration of the left groin, the left testis was pulled up into the abdomen, revealing a uterus, fallopian tube, and a second atrophic testis. Despite the rarity of HUI, the differential diagnosis for inguinal hernia with associated cryptorchidism and/or hydrocele should include this rare form of pseudohermaphroditism...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28319024/the-prostatic-utricle-an-under-recognized-condition-resulting-in-significant-morbidity-in-boys-with-both-hypospadias-and-normal-external-genitalia
#17
Austin G Hester, Stanley J Kogan
INTRODUCTION: Pediatric presentations of a prostatic utricle have received only scant attention. Though recognized with increased frequency in boys with hypospadias, little is described about their incidence and potential for morbidity in boys with normal external genitalia. METHODS: We initially reviewed a cohort of 64 patients with hypospadias seen over a 3-year period to determine the frequency of investigative lower urinary tract studies and utricle identification...
March 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#18
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28295560/castration-in-the-standing-horse-combining-laparoscopic-and-conventional-techniques
#19
A B M Rijkenhuizen, M R van der Harst
BACKGROUND: Standing laparoscopic castration without orchidectomy has been shown to be a reliable method of castration in animals with abdominal cryptorchidism, but it cannot be recommended as a method of castration in those with inguinal cryptorchidism or normal males. An alternative laparoscopic method for the castration of horses with descended testes was developed. OBJECTIVES: To report the results of laparoscopy-assisted abdominal transection of the spermatic cord and a modified open method in the standing horse for castration of descended testes in unilateral abdominal cryptorchids...
March 12, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28295519/single-nucleotide-polymorphisms-associated-with-nonsyndromic-cryptorchidism-in-mexican-patients
#20
M Chávez-Saldaña, R M Vigueras-Villaseñor, E Yokoyama-Rebollar, D A Landero-Huerta, J C Rojas-Castañeda, L Taja-Chayeb, J O Cuevas-Alpuche, E Zambrano
Cryptorchidism is a frequent genitourinary malformation considered as an important risk factor for infertility and testicular malignancy. The aetiology of cryptorchidism is multifactorial in which certain SNPs, capable of inhibiting the development of the gubernaculum, are implicated. We analysed 16 SNPs by allelic discrimination and automated sequencing in 85 patients and 99 healthy people, with the objective to identify the association between these variants and isolated cryptorchidism. In two different patients with unilateral cryptorchidism, we found the variants rs121912556 and p...
March 10, 2017: Andrologia
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