Phenotypes infertility male. Medical search. Frequent questions

Research into advanced computer-assisted diagnosis of male fertility issues - initially funded by the EPSRC - culminating in the development of the FAST (Flagellar Analysis and Sperm Tracking) software. (wikipedia.org)
The The Centre for Human Reproductive Science team alongside the Fertility Centre have made notable advances in various areas, including achievements in: Translational medicine, such as the invention of the male Fertell over-the-counter home fertility test. (wikipedia.org)
ENU-mutagenesis of male mice was followed by a standard three-generation breeding scheme, with fertility testing of all G3 offspring in order to identify putative reproductive mutants. (jax.org)
I describe a simple model, in which functional fertility (the success of ejaculates in fertilizing eggs) covaries with male phenotype, which can explain the observed associations equally well. (harvard.edu)
Several studies of birds suggest that a relation between male phenotype and functional fertility is often likely to exist and that there are many potential causes of functional infertility. (harvard.edu)
Important considerations include the duration of infertility, previous fertility in the patient and the partner, and prior evaluations. (medscape.com)
Using genome-wide association analysis we have mapped genetic variation of complex phenotypes such as stature, fertility, production traits and resistance to infections. (au.dk)
Inhibin B: comparison with indexes of fertility among formerly cryptorchid and control men. (ijmhr.org)
This case reports the total sperm immotility associated with the CCDC103 p.His154Pro mutation in a man with a normal respiratory phenotype and enriches the variant spectrum of ccdc103 variants and the associated clinical phenotypes in PCD, thus improving counseling of patients about their fertility and possible targeted treatments. (unisi.it)
However, with regard to the impact of male lifestyle on male fertility and offspring health, the data is less clear in my view. (sciencemediacentre.org)

Mcie homozygous for a null allele exhibit male infertility associated with acrosomal ultrastructural defects. (jax.org)
Male mice homozygous for a null allele display infertility, asthenozoospermia, teratozoospermia, and impaired spermiogenesis. (jax.org)

approximately 20,000 individual G3 mice were screened by phenotype analyses, and close to 50 new mutations were identified. (jax.org)
Despite the massive reduction of Dio1 and Sepp1 mRNAs, significantly more corresponding protein was detected in primary hepatocytes lacking Secisbp2 than in cells lacking tRNA[Ser]Sec. Regarding selenoprotein expression, compensatory nuclear factor, erythroid-derived, like 2 (Nrf2)-dependent gene expression, or embryonic development, phenotypes were always milder in Secisbp2-deficient than in tRNA[Ser]Sec-deficient mice. (nih.gov)
These defects resulted in a globozoospermia-like phenotype and male mice infertility. (uni-wuerzburg.de)
Male and female mutant mice have defects in meiotic chromosome segregation and are infertile. (elsevierpure.com)
PHENOTYPE: Homozygous null mice display male infertility with asthenozoospermia. (utsouthwestern.edu)
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. (utsouthwestern.edu)
Genetic mechanisms are implicated in aspects of male infertility and male mice lacking the gene Etv5 exhibited azoospermia with loss of germ cells: a phenotype identical to human Sertoli cell-only syndrome (SCOS). (imrpress.com)

All mutations were mapped to a chromosome region and all were archived as cryopreserved sperm from heterozygous males. (jax.org)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. (nih.gov)
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. (nih.gov)
This means that various mutations can lead to a similar condition but with different phenotype and severity degrees. (apegrade.com)
In addition, to eliminate hereditary defects, we have identified causative mutations of several monogenic diseases such as abnormal growth plate function and dwarfism in pigs, male pig infertility, bovine skeletal malformations, and bovine motor neuron dysmyelination and neurodegeneration. (au.dk)
Mutations that occur during the reproduction process, when the DNA of both parents is replicated, can lead to infertility in males later in life. (ubbcluj.ro)
Background Genetic causes of male infertility are hypothesized to involve multiple types of mutations, from single gene defects to complex chromosome rearrangements. (ubbcluj.ro)
The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. (ubbcluj.ro)
Mutations that delete some components produce fertile phenotypes with subtler effects that provide useful insights into acrosomal matrix function in fertilization. (nih.gov)
Mutations also result in interesting variety including white animals and white spotting phenotypes. (creation.com)
5 This explains why heritable loss-of-function mutations sometimes have pleiotropic effects, not only resulting in white color patterns, but also anemia and/or infertility. (creation.com)
Some of the stronger mutations cause a dominant white phenotype which is lethal in the homozygous condition. (creation.com)
This website provides information on conditions and phenotypes associated with mutations and copy number variations in the Nuclear Receptor Subfamily 5 Group A Member 1 ( NR5A1 , alias: steroidogenic factor 1, SF-1) gene, including clinical data, molecular data, management and research options. (humandiseasegenes.nl)
Mutations and copy number variants of the NR5A1 gene result in a plethora of phenotypes ranging from male infertility and primary ovarian insufficiency to 46,XY and 46,XX differences of sex development (DSD), reflecting its crucial role in gonadal development and gonadal hormone production. (humandiseasegenes.nl)

The origins of male infertility are not well known, such as asthenozoospermia teratozoospermia, or non-obstructive azoospermia. (jri.ir)
We present the first reported case of a male patient from a non-consanguineous Italian family who exhibited a severe form of asthenozoospermia factor infertility but no situs inversus and absolutely no signs of the clinical respiratory phenotype, the proband being a professional basketball player. (unisi.it)

Testicular biopsy is indicated in azoospermic men with a normal-sized testis and normal findings on hormonal studies to evaluate for ductal obstruction, to further evaluate idiopathic infertility, and to retrieve sperm. (medscape.com)
He physician suspects damage to muscle, bone, or adjacent structures sites and institutions can be delineated, then multivariate models can account for variable phenotypes in idiopathic infertility (78). (ben.edu)

The overall goals of this program were to produce and distribute mutant models for infertility and to investigate underlying causes in order to identify new genes and pathways contributing to reproductive function. (jax.org)
In field and laboratory studies of birds, positive associations between male phenotype and success at obtaining extra-pair copulations or extra-pair fertilizations are often interpreted as providing evidence that females are using extra-pair copulations to obtain indirect benefits for their offspring, either through genes for increased viability, or for a fisherian mating advantage. (harvard.edu)
Ten genes, selected in a screen for identifying genes essential for for the formation of either male or female gametocytes, were targeted for gene deletion in the parent line that produces green-fluorescent males and red-fluorescent females. (pberghei.eu)
Depending on the affected sex, we refer to the validated genes as "male development" (md1 to md5) or "female development" (fd1 to fd4. (pberghei.eu)
Semen analysis showed a less severe phenotype in patients with only two DAZ genes compared with patients missing all four genes. (nih.gov)
The aim of the study was to determine whether the expression level of genes annotated with the Gene Ontology (GO) term 'sperm motility' differed in sperm collected from healthy men and men diagnosed with oligoasthenozoospermia. (uni-saarland.de)
Reverse transcription quantitative real-time PCR (RT-qPCR), quantitative mass spectrometry (LC-MS/MS), and enrichment analyses were used to validate a set of 132 genes in 198 men present at an infertility clinic. (uni-saarland.de)
Out of the 132 studied sperm-motility-associated genes, 114 showed differentially expressed levels in oligoasthenozoospermic men compared to those of normozoospermic controls using an RT-qPCR analysis. (uni-saarland.de)
Our study reveals an extended number of sperm-motility-associated genes with altered expression levels in the sperm of men with oligoasthenozoospermia. (uni-saarland.de)
These genes and/or proteins can be used in the future for better assessments of male factor infertility. (uni-saarland.de)

We concluded that ginger extract may be potentially useful in the management of male infertility especially those with low sperm count. (ijmhr.org)

The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation. (medscape.com)

Some gene knockouts produce infertile phenotypes with obviously missing, specific activities that affect acrosome biogenesis during spermatogenesis or interfere with acrosome function in mature sperm. (nih.gov)
Among these deregulated proteins, there was a clear overrepresentation of annotation terms related to sperm integrity, the cytoskeleton, and energy-related metabolism, as well as human phenotypes related to spermatogenesis and sperm-related abnormalities. (uni-saarland.de)

An MS analysis of sperm from an independent cohort of healthy and subfertile men identified 692 differentially expressed proteins, of which 512 were significantly lower and 180 were significantly higher in oligoasthenozoospermic men compared to those of the normozoospermic controls. (uni-saarland.de)
These findings suggest that many of these proteins may serve as diagnostic markers of male infertility. (uni-saarland.de)

A team at Newcastle University has identified a genetic mechanism that causes severe male infertility Since infertility is also of great interest to the general public, the book also includes a detailed description of what infertility is and how one can understand the different types. (ubbcluj.ro)
Gonorrhea typically presents as urethritis in men and cervicitis in women but when left untreated can result in severe sequelae, such as infertility ( 2 , 3 ). (cdc.gov)

Comprehensive clinical and psychiatric assessment was performed at the baseline, when initial FMD phenotype was defined. (lookformedical.com)
The clinical phenotype of CAH depends on the nature and severity of the enzyme deficiency. (medscape.com)

At least three distinct meiotic drive alleles, one on each S. kambucha chromosome, independently contribute to hybrid infertility by causing nonrandom spore death. (elifesciences.org)
KS is the most common sex chromosome disorder in males, affecting one in 660 men. (mensfe.net)
Recently, several recurrent X-chromosome microdeletions (located in subtelomeric region of the long arm) were reported to be associated with male infertility in Spanish and Italian males. (ubbcluj.ro)
Males with Klinefelter's syndrome have an extra X chromosome, which causes abnormal development of the testicles. (ubbcluj.ro)
The Y chromosome contains the genetic material with the codes that determine the male gender, and related masculine characteristics and development. (ubbcluj.ro)
This mosaicism, due to the presence of the ring Y chromosome and depending upon on the presence or absence of the SRY gene can result in a wide spectrum of manifestations ranging from females with a Turner syndrome-like phenotype to phenotypic males. (juniperpublishers.com)
Variability of phenotype depends on the percentage of monosomic cells in different tissues and on the genetic material deleted during the formation of ring Y chromosome. (juniperpublishers.com)

In this regard, metabolomics as a new field of omics has been suggested to have the potential of solving and diagnosis of the male infertility problems. (jri.ir)
Based on our own results, using human seminal plasma for metabolomics studies is highly recommended to find potential biomarkers and developing diagnosis tests for detection of main deficiencies in infertile men. (jri.ir)
In spite of so many studies on male infertility treatments and diagnosis, there are a lot of questions that need to be addressed (1-3). (jri.ir)
The recent advances in the use of high-throughput techniques such as genomics, transcriptomics, proteomics and metabolomics give hope to infertile men for a better diagnosis and treatment. (jri.ir)
An infertility diagnosis is given to a couple who are unable to conceive over the course of one year. (ubbcluj.ro)

Some patients show maturation arrest, and Sertoli cell-only phenotype has been observed (Hardy et al. (nih.gov)
Single-nucleotide polymorphisms in ETV5: a risk factor for Sertoli cell-only syndrome in Japanese men? (imrpress.com)

Since the evolutionary forces driving genetic changes that cause infertility between species are likely also acting within species, the study of hybrid sterility also promises significant insight into mechanisms underlying infertility within species. (elifesciences.org)
Many things can cause infertility in men. (ubbcluj.ro)

Under such a model, females pursue extra-pair copulations as insurance against the functional infertility of their mate, and obtain only direct benefits for themselves in their current reproductive event. (harvard.edu)
Males and females contribute equally to this problem. (jri.ir)
Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. (beds.ac.uk)
Patients with mosaic 45, X/46,X(r)Y karyotype, present with phenotypes ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, to almost phenotypic normal males [ 4 , 5 ]. (juniperpublishers.com)
Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect. (msdmanuals.com)

Klinefelter's syndrome (KS) is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. (mensfe.net)

Sperm motility is a prerequisite for achieving pregnancy, and alterations in sperm motility, along with sperm count and morphology, are commonly observed in subfertile men. (uni-saarland.de)
But we have no solid evidence for what is the threshold, if any, for the sperm count to exceed in order to allow the male to be fertile [4,5,7]. (infertile.com)

Phenotype screening protocols covered basic aspects of reproductive histology and physiology. (jax.org)
In males, decreased general health status appears to be associated with impaired male reproductive health. (medscape.com)
Ginger has been shown to have a positive effect on the function of the male reproductive organ. (ijmhr.org)
With stem cell biology and molecular understanding of reproductive failure, new therapies for previously untreatable infertility are currently on the near horizon. (infertile.com)

a transmission experiment and a cross with a cloned line of md3-KO showed that fertile male gametocytes were still present. (pberghei.eu)

X-linked spermatogenic failure-4 (SPGFX4) is characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. (nih.gov)

Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. (beds.ac.uk)

Diagnostic semen analysis fails to identify 50% of male infertility disorders. (jri.ir)

An estimated 15% of couples meet this criterion and are considered infertile, with approximately 35% due to female factors alone, 30% due to male factors alone, 20% due to a combination of female and male factors, and 15% unexplained. (medscape.com)
Infertility affects 15% of couples and male factor is associated with almost half of them. (jri.ir)
Happily, many couples treated for infertility are able to have babies. (medlineplus.gov)
Author summary Male sterility affects one in seven couples, and around half of these are the result of male factor disorders. (ubbcluj.ro)
of infertility in Canada range from 10% to 15.5% of couples (6). (ubbcluj.ro)
In about a quarter of couples, doctors can't find any specific cause (this is sometimes called unexplained infertility). (ubbcluj.ro)
Approximately 15% of couples are infertile, and male and female factors are believed to be equally important. (imrpress.com)

The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). (beds.ac.uk)

Patients were subjected to controlled ovarian stimulation (COS) for timed intercourse, intrauterine insemination, or in vitro fertilization, according to the presence or absence of other infertility factors (male or tubal). (medscape.com)

Precocious puberty, defined as the onset of puberty before age 9 years in males, may be the sign of a serious underlying endocrinologic disorder. (medscape.com)

Am. Diagnosing male infertility problems usually involves: General physical examination and medical history. (ubbcluj.ro)

Of the mutant lines established, about 75% exhibited a male infertility phenotype only, almost 10% exhibited female infertility only, and about 15% exhibited infertility of both sexes. (jax.org)
Characterizing and marker-assisting a novel chili pepper (Capsicum annuum L.) yellow bud mutant with cytoplasmic male sterility. (geneticsmr.com)
P. berghei ANKA 820cl1m1cl1 (RMgm-164) is a reference ANKA mutant line which expresses GFP under control of a male and RFP under control of a female gametocyte specific promoter. (pberghei.eu)
The mutant lacks expression of PBANKA_0413400 and expresses RFP and GFP in female and male gametocytes, respectively. (pberghei.eu)

The breeding of this crop is performed to obtain cultivars with high ethanol yield, which necessarily requires associating favorable phenotypes for multiple traits. (geneticsmr.com)

The initial step in the evaluation of an infertile male is to obtain a thorough medical and urologic history. (medscape.com)

Infertility in men can result from deficiencies in sperm formation, concentration, or transportation. (medscape.com)

Mouse models are needed to understand selenoprotein-dependent processes underlying the patients' pleiotropic phenotypes. (nih.gov)
Furthermore, there are patients with normal semen parameters which are called idiopathic infertile men. (jri.ir)
While the association between KS and infertility has been well documented, few studies have investigated sexual function in the KS patients. (mensfe.net)
One hundred and thirty-nine patients with male factor infertility. (nih.gov)
Dr. Sherman Silber, Infertility Center of St. Louis, is offering video consultations for patients who need to plan now for their treatment while stay-at-home orders are in place. (infertile.com)
In most of the reported cases, patients have presented later in life due to infertility. (juniperpublishers.com)

The developed world is in the midst of a widespread infertility epidemic. (infertile.com)

Searching the Google scholar, PubMed and Scopus databases by combining the terms metabolomics and male infertility apparently shows a few related studies. (jri.ir)
The IAs apparently have shown a normal phenotype. (geneticsmr.com)

Mutagenesis-generated mouse models of human infertility with abnormal sperm. (jax.org)
Ranolazine rescues the heart failure phenotype of PLN-deficient human pluripotent stem cell-derived cardiomyocytes. (stembook.org)

Translational medicine research funded by the National Institute for Health and Care Research (NIHR) on Andrology and male factors in healthy live birth which, for the first ever time, has revealed a strong male factor for miscarriage in the male related to the choice / selection of sperm for fertilisation in assisted conception. (wikipedia.org)

There is no consistent phenotype. (msdmanuals.com)

Complications of PID can include ectopic pregnancy, chronic pelvic pain, and infertility. (lecturio.com)

Symptomatic presentation of slides with phobic objects results in different lymphocytes, and then carry shame and difficulty in stopping to confounding by indication, wherein men who feel men. (ben.edu)
On presentation, he had a normal male phenotype, short stature, palpable testes and delayed sexual development. (juniperpublishers.com)

Man-made versus female-made environment-will the real capacitation please stand up? (wikipedia.org)
News / Lifestyle / Health / Microplastics can cause semen quality decline in males and female infertility. (hindustantimes.com)
The male and female GU tracts are regions specialized in reproduction via natural insemination. (lecturio.com)
In this course, the student will be introduced to the pathophysiologies of conditions that affect the female and male GU tracts, STDs, diseases of the ovaries and testicles, and hormone-related ailments. (lecturio.com)

Normal male ductal anatomy. (medscape.com)
Here, we present the molecular cytogenetics of 45,X/46,X(r)Y mosaicism in a 12-year-old boy with normal male phenotype, chordee, short stature andpubertal delay. (juniperpublishers.com)

Anatomy29

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Psychiatry and Psychology3

Phenomena and Processes75

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena4

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Fertility10

Homozygous for a null allele2

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Genes10

Management of Male Infertility1

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Chromosome7

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Females5

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Azoospermia1

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Couples7

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Ovarian1

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Infertile male1

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