Anomalies In Men Research Articles

Outpatient surgery for penile hypospadias in pediatric urology: A monocentric experience with a mean follow-up of 3years

Hypospadias is one of the most common congenital anomalies in men. Outpatient surgery has been proposed but is not widespread. The aim of this study was to evaluate our experience of outpatient surgery for penile hypospadias repair and to specify the constraints for a result similar to a conventional inpatient procedure. Observational, retrospective and single-center study, including all the patients operated on hypospadias for the first time by one of the 3senior surgeons, between January 2011 and March 2018. Peno-scrotal and perineal hypospadias were excluded because systematically hospitalized. One hundred sixty-six patients were included. 67patients (40,4%) were treated on an outpatient basis. The mean age at the time of procedure was 15.6 (6-51) months. Forms with curvature were almost exclusively hospitalized (1 vs. 25, P<0.001). There was no significant difference for anterior penile forms (60 vs. 81, P=0.06). Middle and posterior hypospadias were more often hospitalized, although outpatient experience exists. There were no more complications in the outpatient group. Outpatient hypospadias surgery seems to be achievable in most of the cases, provided that medical care is standardized and multidisciplinary, the staff is trained and involved and a specific organization is put in place in the department. Evaluation of the socio-family environment is therefore fundamental.

An Orthopantomographic study of hypodontia in permanent teeth of Iraqi patients

The congenital lack of one or more permanent teeth is a common anomaly in man .By definition, congenitally missing teeth are those that fail to erupt in the oral cavity and remain invisible in a radiograph, which implies this caused by disturbance during the early stages of tooth development.389 orthopantomograms of healthy patients were used the number of males were 194 and the number of females were 195.The patients has visited the hospital of college of dentistry of Baghdad university between 2006 and 2008.Thy were aged between 13 and 27years at the time the OPGs were taken .All OPGs were analyzed by viewer .The congenitally missing teeth were identify first clinically and confirm by the OPGsThe hypodontia mostly seen in upper lateral incisors, and lower second premolar, flowed by lower central incisors, upper central incisors, and lastly the lower lateral incisor, there were gender difference in hypodontia, but both genders show high percentage of upper lateral incisors hypodontia, 60.31%for males, and 72.30%for females. The hypodontia of lower second premolar in males 18.56%,and in females 14.5%.The hypodontia of upper central incisors in males 2.577%,and 0%in females. The hypodontia for lower central incisor in males 12.89%, and 13.3%in females. The hypodontia for lower lateral incisors in males 5.67%, and in females 0%.From these percentages it was clear that there were difference in hypodontia of upper and lower arches.To evaluate the frequency of hypodontia and compare its appearance between males and females and between upper and lower jaw.

Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis

BackgroundDental agenesis is the most common developmental anomaly in man and may present either as an isolated trait or as part of a syndrome, such as ectodermal dysplasia. Until now, the underlying molecular pathogenic mechanisms responsible for dental agenesis are still largely unknown. Several genetic and molecular studies have demonstrated that at least 300 genes are involved in tooth formation and development, coding for specific transcriptional factors, receptors or growth factors that are expressed at specific developmental stages. Dental agenesis in this respect is believed to result from altered expression of one or more of these factors during initiation and early morphogenesis of the tooth germ, and the first actors identified were MSX1 and PAX9. DesignIn this study, we focalized on a Tunisian family with a non-syndromic autosomal dominant form of tooth agenesis. In order to screen for the eventual genetic cause of dental agenesis in this family we sequenced 4 genes; PAX9, WNT10A, MSX1 and AXIN2 using Sanger sequencing. ResultsDirect Screening analysis of PAX9 gene, revealed a novel mutation p.Asp200Serfs*13. It consists of a duplication of 5 basepairs leading to a codon stop 13 position downstream. This novel mutation was found in all affected family members. ConclusionsIn this report, we present the first genetic study of a Tunisian family with a non-syndromic autosomal dominant form of tooth agenesis, in which we identified in PAX9 gene a novel mutation. It most likely results in nonsense mediated RNA decay and haploinsifficiency that reduce the transactivation capacity of PAX9.

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and as a syndromal feature. We performed exome sequencing on 20 unrelated individuals with apparent non-syndromic oligodontia and failed to detect mutations in genes previously associated with oligodontia. In three of the probands, we detected heterozygous variants in LRP6, and sequencing of additional oligodontia-affected individuals yielded one additional mutation in LRP6. Three mutations (c.1144_1145dupAG [p.Ala383Glyfs(∗)8], c.1779dupT [p.Glu594(∗)], and c.2224_2225dupTT [p.Leu742Phefs(∗)7]) are predicted to truncate the protein, whereas the fourth (c.56C>T [p.Ala19Val]) is a missense variant of a conserved residue located at the cleavage site of the protein's signal peptide. All four affected individuals harboring a LRP6 mutation had a family history of tooth agenesis. LRP6 encodes a transmembrane cell-surface protein that functions as a co-receptor with members from the Frizzled protein family in the canonical Wnt/β-catenin signaling cascade. In this same pathway, WNT10A was recently identified as a major contributor in the etiology of non-syndromic oligodontia. We show that the LRP6 missense variant (c.56C>T) results in altered glycosylation and improper subcellular localization of the protein, resulting in abrogated activation of the Wnt pathway. Our results identify LRP6 variants as contributing to the etiology of non-syndromic autosomal-dominant oligodontia and suggest that this gene is a candidate for screening in DNA diagnostics.

Hypospadias

Hypospadias is one of the most common congenital anomalies in men. We searched the recent literature (since 1 January 2011) using the following keywords in the title or abstract: hypospadia or hypospadias, in order to provide the reader with an updated view of the subject. Early repair is recommended; distal forms are mainly treated by the tubularized incised plate technique; however, meatal stricture concerns are still noticed, limiting its use on proximal forms. The debate of proximal primary repair in either one or two stages is still ongoing. Minor modifications for preparing the distal bed for the urethroplasty in two stages are presented. One-stage repairs, either with reconstruction of the urethral plate (three-in-one concept) or simply with the onlay to tunica albuginea (Rigamonti), is a viable option with over 70% success in one surgery. The importance of barriers, such as tunica vaginalis and dartos flap, was reassessed and flow rates may indicate obstructive voiding patterns after 1-year follow-up. Further experience and comparative studies for distal and proximal hypospadias are required. Long-term data may indicate the appropriate procedure selected for primary repair.

Management Missing Later Incisor in Monozygotic Twins: Two Case Reports

Tooth loss of anterior region is the result of congenital anomaly or of a traumatic event. Maxillary lateral incisor is very important in masticatory function because permit lateral protrusion movement of mandible and is a key point in aesthetic of smile. Tooth agenesis is one of the most common developmental anomalies in man and it often is a feature of syndromes. Tooth developmental results by interactions of genetic and environmental factors, in particular mutations in MSX1, PAX9 contribute tooth agenesis, but also radiotherapy, chemotherapy, maternal systemic diseases aid genetic aberrations. Upper lateral incisor is in a unfavorable anatomical position because it's in fusion area of facial processes for this it's the most common tooth loss in oral cleft. The management of these patients is complex and it includes an orthodontic, prosthetic and surgical analysis This report addresses the fundamental considerations related to replacement of congenitally missing lateral incisors by a team approach.

Genetically alike Syrian hamsters display both bifoliate and trifoliate aortic valves

The bifoliate, or bicuspid, aortic valve (BAV) is the most frequent congenital cardiac anomaly in man. It is a heritable defect, but its mode of inheritance remains unclear. Previous studies in Syrian hamsters showed that BAVs with fusion of the right and left coronary leaflets are expressions of a trait, the variation of which takes the form of a phenotypic continuum. It ranges from a trifoliate valve with no fusion of the coronary leaflets to a bifoliate root devoid of any raphe. The intermediate stages are represented by trifoliate valves with fusion of the coronary aortic leaflets, and bifoliate valves with raphes. The aim of this study was to elucidate whether the distinct morphological variants rely on a common genotype, or on different genotypes. We examined the aortic valves from 1 849 Syrian hamsters belonging to a family subjected to systematic inbreeding by full-sib mating. The incidence of the different trifoliate aortic valve (TAV) and bifoliate aortic valve (BAV) morphological variants widely varied in the successive inbred generations. TAVs with extensive fusion of the leaflets, and BAVs, accounted for five-sixths of the patterns found in Syrian hamsters considered to be genetically alike or virtually isogenic, with the probability of homozygosity being 0.999 or higher. The remaining one-sixth hamsters had aortic valves with a tricuspid design, but in most cases the right and left coronary leaflets were slightly fused. Results of crosses between genetically alike hamsters, with the probability of homozygosity being 0.989 or higher, revealed no significant association between the valvar phenotypes in the parents and their offspring. Our findings are consistent with the notion that the BAVs of the Syrian hamster are expressions of a quantitative trait subject to polygenic inheritance. They suggest that the genotype of the virtually isogenic animals produced by systematic inbreeding greatly predisposes to the development of anomalous valves, be they bifoliate, or trifoliate with extensive fusion of the leaflets. We infer that the same underlying genotype may account for the whole range of valvar morphological variants, suggesting that factors other than genetic ones are acting during embryonic life, creating the so-called intangible variation or developmental noise, and playing an important role in the definitive anatomic configuration of the valve. The clinical implication from our study is that congenital aortic valves with a trifoliate design, but with fusion of coronary aortic leaflets, may harbour the same inherent risks as those already recognised for BAVs with fusion of right and left coronary leaflets.

Agenesis of a Mandibular Canine: A case report

Hypodontia is one of the most common developmental anomalies in man. The most frequently missing tooth is the third molar. Agenesis of canine in the secondary dentition is rarely reported . To report a very rare form of missing tooth in the secondary dentition due to agenesis. A 49-year Nigerian male consulted with a desire to have a dental check-up. Extra- and intr-oral exminations were carried out. Following observation of a a missing tooth orthopanthomograph was carried out. with a missing lower right canine. All other teeth were well formed and have all erupted into the oral cavity. There was no history of systemic disease or family history of oligodontia and was generally well. Systemic examination was essentially normal. Intra oral examination revealed that he had full complement of teeth but for a missing lower right canine. There was a gap of about 2mm between the lower right lateral incisor and the lower right first premolar and a buccal displacement of the upper left second molar as well as a carious lesion on the upper first left molar. The orthopanthomograph showed that the tooth was not within the mandible in this patient. The cause of the aplasia resulting in this rare condition is not clear but may be due to inadequate secretion of some of the signaling molecules or localized absence of their receptors in the ectomesenchye destined to differentiate into the right canine tooth.

Association Between Venous Leg Ulcers and Sex Chromosome Anomalies in Men

We report here two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrations: one with a 47,XXY/48,XXXY karyotype (Klinefelter syndrome) and the other with a 47,XYY karyotype (Jacob syndrome). In both patients, the occurrence of leg ulcers was the reason for seeking medical care; their medical history was other-wise unremarkable. Chromosomal analyses were performed due to the unusually young age for development of venous leg ulcers. The pathophysiology behind the occurrence of venous leg ulcers in patients with numerical aberrations of the sex chromosomes is incompletely understood. Involvement of elevated plasminogen activator inhibitor-1 levels in the pathogenesis of venous leg ulcers has been reported in patients with Klinefelter syndrome. Notably, our patient with 47,XXY/48,XXXY presented with androgen deficiency but normal plasminogen activator inhibitor-1 activity.

Genetic basis of tooth agenesis

Tooth agenesis or hypodontia, failure to develop all normally developing teeth, is one of the most common developmental anomalies in man. Common forms, including third molar agenesis and hypodontia of one or more of the incisors and premolars, constitute the great majority of cases. They typically affect those teeth that develop latest in each tooth class and these teeth are also most commonly affected in more severe and rare types of tooth agenesis. Specific vulnerability of the last developing teeth suggests that agenesis reflects quantitative defects during dental development. So far molecular genetics has revealed the genetic background of only rare forms of tooth agenesis. Mutations in MSX1, PAX9, AXIN2 and EDA have been identified in familial severe agenesis (oligodontia) and mutations in many other genes have been identified in syndromes in which tooth agenesis is a regular feature. Heterozygous loss of function mutations in many genes reduce the gene dose, whereas e.g. in hypohidrotic ectodermal dysplasia (EDA) the complete inactivation of the partially redundant signaling pathway reduces the signaling centers. Although these mechanisms involve quantitative disturbances, the phenotypes associated with mutations in different genes indicate that in addition to an overall reduction of odontogenic potential, tooth class-specific and more complex mechanisms are also involved. Although several of the genes so far identified in rare forms of tooth agenesis are being studied as candidate genes of common third molar agenesis and incisor and premolar hypodontia, it is plausible that novel genes that contribute to these phenotypes will also become identified.

L1CAM mutation in a boy with hydrocephalus and duplex kidneys

Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome). Although L1CAM is expressed during renal development and L1cam-deficient mice have congenital malformations of the kidney and the urinary tract, L1CAM mutations have not been associated with renal anomalies in men. We report on a boy with prenatally detected hydrocephalus. After his birth, bilateral duplex kidneys and ureters, with a unilateral mega-ureter serving a hydronephrotic upper pole, as well as agenesis of the corpus callosum, adducted thumbs, spasticity, and mental retardation were recognized, fulfilling the criteria of an L1-spectrum disease. Genetic testing of the patient and his mother identified a 2 bp deletion in the invariant splice consensus sequence of intron 18 of L1CAM, predicting a largely truncated or absent protein. At the age of 9 years, 7 years after heminephrectomy, the boy has normal renal function. This observation suggests that patients with L1CAM mutations may have renal abnormalities as seen in the L1cam-deficient mouse model. L1CAM might, therefore, also be considered a possible candidate gene for renal malformations.

Report on evaluation of the azoospermic male

Report on evaluation of the azoospermic male

Clinical features of hypodontia and associated dental anomalies: a retrospective study

Hypodontia is the most commonly known developmental dental anomaly in man. This paper aims to investigate the characteristics of tooth absence and associated dental anomalies among the patients attending our paediatric dentistry clinic. For this study, 192 patients aged between 1 and 18 years with congenitally missing teeth were selected among the patients who attended the Department of Paediatric Dentistry of Süleyman Demirel University between January 2000 and December 2003. Clinical and radiographic examinations were performed by two dentists in order to detect the missing teeth. We determined 503 congenitally missing teeth in 192 patients (male = 93, female = 99), excluding third molars. Twelve of these teeth were deciduous and 491 were permanent. A higher incidence of missing teeth was observed in girls than boys, in mandibular arch than maxillary and on the right side than left side. However the differences between arches and sides were not statistically significant in both sexes. The diagnosis of the hypodontia should be performed as early as possible, thus alternative treatment modalities can be planned and performed in a multidisciplinary team approach, in order to establish an aesthetic and functional dentition in the future.

A prospective study of the prevalence of gastroesophageal reflux disease and confounding factors

The prevalence of gastroesophageal reflux disease (GERD) has reportedly risen in recent years. Difficulties associated with endoscopic diagnosis mean it is not easy to determine its precise prevalence. A prospective study of the prevalence of endoscopy-positive GERD (EP-GERD) was conducted at Higuchi Hospital, a general hospital in Northwestern Kyushu, Japan. The study also correlated factors that might affect prevalence (age, sex, and functions of the gastroesophageal junction). From consecutive patients undergoing endoscopic examination at Higuchi Hospital between January 2000 and April 2003, 1234 patients without severe complications were examined for the possible presence of GERD. Patients were stratified by age and sex, and the prevalence in each group ascertained. EP-GERD was defined on the four-level scale of the Los Angeles classification. Endoscopic classification of gastroesophageal flap valve ([GEFV] functional anomalie; using a four-level scale), was done as proposed by Hill et al. in 1996, to assess flap-valve morphology. Six items were evaluated: (1) symptoms and primary diseases; (2) prevalence of development of EP-GERD classified by age and sex; (3) endoscopic morphology of the GEFV as an expression of the functions of the gastroesophageal junction, and its prevalence by age and sex; (4) regression analysis and Spearman's rank correlation of GEFV and EP-GERD grades; (5) prevalence of EP-GERD and GEFV stratified by age and analyzed; and (6) multiple regression analysis of EP-GERD and explanatory variables (age, sex, and GEFV). The overall prevalence of EP-GERD was 5.8% (72/1234) and this patient group was dominated by men. Aging had minimal effect on prevalence in men, but the prevalence rose among women as they aged. The age-stratified prevalence of GEFV functional anomalies was similar to the age-stratified prevalence of EP-GERD in both sexes. The correlation between EP-GERD and GEFV functional anomalies was high regardless of sex. We postulate that the mechanisms leading to the development of GEFV functional anomalies in men are different from those in women. Future evaluations of EP-GERD should also observe GEFV function.

Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

This study analyses the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques. Prior to receiving either IVF or ICSI treatment, each partner of 2078 infertile couples was screened for karyotype changes by GTG-banding technique on peripheral lymphocytes. No subject presented with obvious phenotype of chromosomal rearrangement. All the oligo/azoospermic men with normal karyotype were further investigated by PCR for Yq11 microdeletions. Eighty-two out of 2078 couples (3.95%) had one partner carrying a chromosomal change, and 10 out of 202 (4.95%) men showed Yq11 microdeletions. The chromosomal rearrangements were 44 (2.1%) translocations, 23 (1.1%) gonosomal mosaics, six (0.3%) 47,XXY, five (0.24%) marker chromosomes, three (0.14%) inversions and one (0.05%) duplication. Frequency of anomalies in men and women were similar: 42 and 40 cases respectively. Partners of infertile couples requiring IVF or ICSI treatment appear to be affected by higher frequency of chromosomal rearrangements than the general population. Categories with greater risk were represented by men with sperm cell count <20 x 10(6) sperm/ml, and women with history of pregnancy loss.

Developmental genetics in ophthalmology

Much of our knowledge about the function of genes in mammalian development has been derived from the molecular analysis of spontaneous or induced mutations in the mouse. Since mutations affecting the mouse eye can be easily identified, a remarkable number of mutant lines provide animal models for congenital anomalies in man. To understand the mechanisms of lens development in detail, the isolation of the corresponding genes and the characterization of the mutations at the molecular level are important. A prerequisite for molecular analysis is the chromosomal localization of the gene. In this review, some mutants from our institute will be discussed according to the embryological time scale of the expression of the affected genes, reflecting also their genetic hierarchy. (1) In the aphakia mouse mutant, two deletions in the promoter of the homeobox transcription factor Pitx3 lead to a loss of its function and to an arrest of eye development at the lens stalk stage. Mutations in the homologous human PITX3 gene have been demonstrated to be causative of cataracts and the dysmorphology of the anterior segment of the eye. (2) Connexin50 is present in the lens vesicle. Later on, it becomes abundant in the anterior part of the fiber cells and in the lens epithelial cells. Mutations in the connexin50-encoding gene Gja8 lead to dominant cataracts. (3) aAcrystallin is present in the mouse lens cup, in the posterior half of the lens vesicle, and later in a high concentration in the lens fiber cells. Mutations in the aA-crystallin-encoding gene Cryaa lead to recessive and dominant cataracts. (4) Mutations in the ?-crystallin -encoding genes ( Cryg ) are the most frequent cause of congenital, dominant nuclear, or total cataracts in the mouse. Indications from our first studies in congenital human cataracts support these data. (5) Some postnatal, progressive cataracts have been characterized by mutations in the ß-crystallin -encoding genes ( Cryb ). Since at least one of them is also expressed in the retina and the brain, effects on these tissues have to be considered, too.

Urogenital Anomalies in Men with Congenital Absence of the Vas Deferens

Purpose We evaluated urogenital anomalies in men with congenital absence of the vas deferens. Materials and Methods A retrospective review was done of 104 subfertile men with congenital absence of the vas deferens (84 bilaterally and 20 unilaterally). Results Of men with unilateral or bilateral congenital absence of the vas deferens 26 and 11 percent, respectively, had renal agenesis. Of men with unilateral congenital absence of the vas deferens and infertility 80 percent had genitourinary anomalies affecting the contralateral testis. No man with congenital absence of the vas deferens and renal anomalies had cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations detected. Conclusions Other urogenital anomalies are common for men with congenital absence of the vas deferens. CFTR gene mutations frequently contribute to maldevelopment of the vas deferens but vasal agenesis can occur without any evidence of CFTR defects. CFTR abnormalities are rarely detected in men with congenital absence of the vas deferens and renal anomalies.

Urogenital Anomalies in Men with Congenital Absence of the Vas Deferens

Urogenital Anomalies in Men with Congenital Absence of the Vas Deferens

Development of the pulmonary vein in the American alligator (Alligator mississippiensis).

The origin of the embryonic common pulmonary vein in terrestrial vertebrates is still uncertain. Most earlier studies in nonhuman embryos describe the vein as entering the sinus venosus. The currently prevailing view, however, based largely on the study of human material, is that the embryonic common pulmonary vein is associated with the left atrium from its inception. We recently observed the pulmonary vein entering the sinus venous part of the right atrium in several normal dog embryos of a stage comparable to horizon XIV in man (Streeter: Contrib. Embryol. Carnegie Inst. Wash., 31:53, 1945). In slightly older specimens the vein entered the left atrium just to the left of septum primum. This observation, and the fact that some atrial septal and pulmonary venous anomalies in man still await a plausible pathogenetic explanation, stimulated a restudy of the origin of the vein. The alligator was used because we already had prepared a large number of closely graded serially sectioned embryos for other purposes. Wax plate reconstructions clearly showed that the common pulmonary vein entered the left side of the sinus venosus. With the formation of the atrial septum, this part of the sinus venosus is "pinched off" and becomes incorporated into the left atrium, thus transferring the pulmonary venous ostium to that atrium.

Sexual strands—understanding and treating sexual anomalies in men

Sexual strands—understanding and treating sexual anomalies in men