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https://www.readbyqxmd.com/read/29333516/comparison-of-penile-length-at-6-24-months-between-children-with-unilateral-cryptorchidism-and-a-healthy-normal-cohort
#1
Dong Soo Ryu, Won Yeol Cho, Jae Min Chung, Dong Il Kang, Sang Don Lee, Sungchan Park
Purpose: Urologic diseases affected by testosterone can be associated with smaller penis size compared to the normal population. We sought to compare penile length in children with unilateral cryptorchidism and normative data from a cohort of healthy Korean boys. Materials and Methods: This study was performed in 259 Korean boys (212, normal cohort; 47, cryptorchidism) aged 6-24 months, each of whom had been brought to an outpatient clinic at one of five tertiary hospitals (Gyeongsangnam-do Province) between April 2014 and June 2015...
January 2018: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/29332065/a-novel-mutation-of-amhr2-in-two-siblings-with-persistent-m%C3%A3-llerian-duct-syndrome
#2
Aydilek D Çakır, Hande Turan, Hüseyin Onay, Haluk Emir, Senol Emre, Nil Comunoglu, Oya Ercan, Olcay Evliyaoglu
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the AMH gene or its type II receptor (AMHR2). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G>T). PMDS is a rare condition, but it has to be considered in differential diagnosis of cryptorchidism with normal male genitalia...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29331326/cryptorchidism-in-sweden-a-nationwide-study-of-prevalence-operative-management-and-complications
#3
Susanna Bergbrant, Erik Omling, Jonas Björk, Lars Hagander
OBJECTIVES: To review the cumulative prevalence, operative management, and complications of treatment for cryptorchidism in Sweden. STUDY DESIGN: A nationwide observational study from longitudinal register data of all Swedish-born boys 0-18 years of age, diagnosed with cryptorchidism from 2001 to 2014. Primary outcomes were occurrence and age at primary surgery. Secondary outcomes included type of procedure and surgical site infection. RESULTS: Of 20 375 boys diagnosed with cryptorchidism in 2001-2014, 12 766 were surgically treated...
January 10, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29320783/wt1-gene-mutation-p-r462w-in-a-46-xy-dsd-patient-from-egypt-with-gonadoblastoma-and-review-of-the-literature
#4
Inas Mazen, Heba Hassan, Alaa Kamel, Mona Mekkawy, Ken McElreavey, Mona Essawi
WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. However, in this study we report an Egyptian patient with a novel phenotype carrying the p.R462W mutation. We also review the heterogeneity of phenotypes of previously reported patients with the p...
January 11, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29285121/persistent-m%C3%A3-llerian-duct-syndrome-a-case-report-and-review
#5
Xiaoya Ren, Di Wu, Chunxiu Gong
Persistent Müllerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism caused by a deficiency in anti-Müllerian hormone (AMH) or a defect in its type II receptor. The current study reports the clinical data and results of the genetic analysis of a 17-month-old male diagnosed with PMDS. The clinical manifestations of the patient included a left transverse testicular ectopia and bilateral cryptorchidism. Pelvic ultrasonography indicated two testes on the same left inguinal ring and left inguinal hernia and uterine tissue located at the left rear of the bladder...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29243340/testicular-sperm-extraction-after-laparoscopic-orchiectomy-for-bilateral-postpubertal-intra-abdominal-cryptorchidism-what-chance-of-sperm-retrieval
#6
G Cito, P A Della Camera, S Degli Innocenti, M E Coccia, G Nesi, A Cocci, S Morselli, A Minervini, M Carini, M Serni, M Gacci, A Natali
Infertility occurs in up to 54% of men with bilateral undescended testes. Orchiectomy is considered the best therapeutic approach, especially when cryptorchidism is diagnosed in adulthood, due to a high risk of malignancy. A 33-year-old man was referred with a clinical presentation of empty scrotum and an ultrasonography and magnetic resonance imaging evaluation of intra-abdominal bilateral cryptorchidism. Follicle-stimulating hormone was 23.20 IU/L, luteinising hormone was 14.10 IU/L, total testosterone was 12...
December 15, 2017: Andrologia
https://www.readbyqxmd.com/read/29226118/identification-of-a-novel-heterozygous-de-novo-7-bp-frameshift-deletion-in-pbx1-by-whole-exome-sequencing-causing-a-multi-organ-syndrome-including-bilateral-dysplastic-kidneys-and-hypoplastic-clavicles
#7
Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele
Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations. Materials and methods: Here, we report on a 14-year-old male patient with congenital bilateral dysplastic kidneys, cryptorchidism, hypoplastic clavicles, developmental delay, impaired intelligence, and minor dysmorphic features...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29213170/prune-belly-syndrome-a-report-of-15-cases-from-sudan
#8
Abdelmoneim E M Kheir, Eltigani M A Ali, Safaa A Medani, Huda S Maaty
Prune belly syndrome is a rare congenital malformation of unknown aetiology, composed of a triad of deficient abdominal wall muscle, cryptorchidism and urinary tract anomalies. The majority of patients have associated pulmonary, skeletal, cardiac, and gastrointestinal defects. This was a prospective, case finding study that was conducted in the main paediatric hospitals in Khartoum state, during the period December 2015 to September 2016. A total of 15 patients with prune belly syndrome were collected. Patients' characteristics were noted including socio-demographic data, laboratory and radiological investigations and any medical or surgical intervention...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29210485/a-novel-finding-of-oligodontia-and-ankyloglossia-in-a-14-year-old-with-floating-harbor-syndrome
#9
Akshara Singh, Hind Pal Bhatia, Shveta Sood, Naresh Sharma, Amit Mohan
Floating-Harbor syndrome (FHS) is a rare genetic condition characterized by distinct facial features, short stature and delayed skeletal development. Here we present case of a 14-year-old boy with short stature, typical facial features, impaired voice quality, clinodactyly, cryptorchidism and unilateral agenesis of kidney. In addition he had oligodontia and ankyloglossia with features suggestive of FHS. Treatment rendered was restoration of caries, application of pit and fissure sealants followed by frenectomy...
December 6, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/29197384/involvement-of-the-bone-morphogenic-protein-smad-signaling-pathway-in-the-etiology-of-congenital-anomalies-of-the-kidney-and-urinary-tract-accompanied-by-cryptorchidism
#10
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
https://www.readbyqxmd.com/read/29195026/effects-of-the-insulin-like-growth-factor-system-on-testicular-differentiation-and-function-a-review-of-the-literature
#11
REVIEW
R Cannarella, R A Condorelli, S La Vignera, A E Calogero
We recently described the occurrence of cryptorchidism, oligoasthenoteratozoospermia, and genital abnormalities in patients with distal 15q chromosome structural abnormalities. This observation brought us to hypothesize that insulin-like growth factor (IGF) receptor (IGF1R), mapping on the 15q 26.3 chromosomal band, may be involved in testicular function. To further evaluate this topic, we reviewed in vitro and in vivo studies exploring the role of the IGF system [IGF1, IGF2, IGF1R, insulin receptor substrates (IRS)] at the testicular level both in animals and in humans...
December 1, 2017: Andrology
https://www.readbyqxmd.com/read/29194807/prevalence-of-the-amhr2-mutation-in-miniature-schnauzers-and-genetic-investigation-of-a-belgian-malinois-with-persistent-m%C3%A3-llerian-duct-syndrome
#12
M M Smit, K J Ekenstedt, K M Minor, C K Lim, Paj Leegwater, E Furrow
Persistent Müllerian duct syndrome (PMDS) is a sex-limited disorder in which males develop portions of the female reproductive tract. Important consequences of PMDS are cryptorchidism and its sequelae of infertility and increased risk of testicular cancer. Anti-Müllerian hormone (AMH) and its receptor (AMHR2) induce the regression of the Müllerian ducts in male embryos. In Miniature Schnauzer dogs, the genetic basis has been identified as an autosomal recessive nonsense mutation in AMHR2, but the allele frequency of the mutation is unknown...
December 1, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29184883/small-bowel-obstruction-caused-by-cryptorchidism-in-an-adult
#13
Chang Woo Kim, Gyeong Eun Min, Suk-Hwan Lee
Small bowel obstruction (SBO) is a common complication after abdominal surgery, and can occur due to many reasons. However, cryptorchidism can cause SBO in patients with no history of abdominal surgery. We report the case of a 67-year-old man with SBO caused by adhesions between an undescended testis and the terminal ileum.
November 2017: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/29183799/is-testicular-dysgenesis-syndrome-a-genetic-endocrine-or-environmental-disease-or-an-unexplained-reproductive-disorder
#14
REVIEW
Jian-Sheng Xing, Zhi-Ming Bai
Progressive increases in the incidence of male reproductive disorders inclusive of hypospadias, cryptorchidism, poor semen quality, and testicular germ cell cancer (TGCC) have been observed in recent times. The central hypothesis of this study asserted that these disorders may all collectively signify testicular dysgenesis syndrome (TDS). This review aimed to provide evidence verifying the reality of TDS based on four key aspects: environmental endocrine-disrupting chemicals (EDCs), genetic factors, intrauterine growth disorders and lifestyle factors...
November 25, 2017: Life Sciences
https://www.readbyqxmd.com/read/29178636/a-novel-splice-site-variant-in-cyp11a1-in-trans-with-the-p-e314k-variant-in-a-male-patient-with-congenital-adrenal-insufficiency
#15
Montserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn, Jennifer M Gass, Thomas R Caulfield, Paldeep S Atwal
BACKGROUND: The CYP11A1 gene encodes the cytochrome P450 side-chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum in affected 46XY males may vary from surgically repairable defects including cryptorchidism and hypospadias to complete feminization of external gonads, accompanied by symptoms of adrenal dysfunction...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29176027/identification-of-a-novel-mutation-of-nr0b1-in-a-patient-with-x-linked-adrenal-hypoplasia-and-symptomatic-treatment
#16
Jing Yang, Yuncheng Lv, Ye Zhou, Xinhua Xiao
BACKGROUND: X-linked congenital adrenal hypoplasia (X-linked AHC) is characterized by acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty. Mutations in NR0B1, the gene located on Xp21.3 and encoding an orphan nuclear receptor named DAX1, are responsible for this disease. METHODS: The entire coding region of the NR0B1 gene of a 14-year-old X-linked AHC proband as well as his family members was sequenced...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29174092/rare-copy-number-variants-identified-in-prune-belly-syndrome
#17
Nansi S Boghossian, Robert J Sicko, Andreas Giannakou, Aggeliki Dimopoulos, Michele Caggana, Michael Y Tsai, Edwina H Yeung, Nathan Pankratz, Benjamin R Cole, Paul A Romitti, Marilyn L Browne, Ruzong Fan, Aiyi Liu, Denise M Kay, James L Mills
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4 females) with PBS identified from all live births in New York State (1998-2005) were genotyped using Illumina HumanOmni2...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29169774/sir-denis-browne-the-father-of-modern-pediatric-surgery
#18
REVIEW
Don K Nakayama
Sir Denis John Wolko Browne (1892-1967), while not the first in the British Isles to devote his entire surgical practice to pediatric surgery, is accepted as "the father of pediatric surgery in the United Kingdom." He made contributions to operations as varied as tonsillectomy, pyloromyotomy, and hypospadias repair, and provided fundamental insights into the proper treatment of club foot, congenital dislocation of the hip, and cryptorchidism. He introduced the transverse laparotomy incision, primary repair of congenital intestinal obstruction, and the end-to-back anastomosis for intestinal atresia, techniques so commonly used that it is difficult to think of pediatric surgical operations done any differently...
October 26, 2017: Journal of Pediatric Surgery
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
#19
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
#20
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
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