Gonads results gonadal dysgenesis. Medical search. Frequent questions

Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (XX or XY), which directs the formation of the gonad (ovary or testis). (wikipedia.org)
Disorders/differences of sex development ( DSD , also referred to as intersex) are congenital conditions in which chromosomal, gonadal or phenotypic sex are different from what is seen as typically male or female. (pediatricurologybook.com)
Patients with chromosomal DSD as a result of a 45,X/46,XY karyotype (mixed gonadal dysgenesis) may present with a wide spectrum of phenotypes ranging from normal male through ambiguous genitalia to female with a TS phenotype [ 5 ]. (biomedcentral.com)
The presence of intermediate or atypical combinations of physical features that usually distinguish Female from Male due to congenital involving chromosomal, morphological, genital and/or gonadal anomalies, such as diversion from typical XX-female or XY-male presentations, e.g., sex reversal (XY female XX -male), genital ambiguity, or sex developmental differences. (ijcrr.com)
Some individuals may have a chromosomal mosacism or a chimerism that results in the presence of Y chromosome containing cells in the gonad. (orpha.net)
Human intersex is an organic phenomenon resulting from an imbalance between the factors and events responsible for sexual determination and differentiation, which takes place when an individual's body presents ambiguities, anomalies or inconsistencies in the biological components of his or her sexual identity, i.e., in his or her sex chromosomal, hormonal and/or morphological sex 2 . (bvsalud.org)
Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. (eurospe.org)
A disorder of sex development (DSD) occurs when there is incongruence between a child's external genitalia, gonads (ovaries or testes) and chromosomal sex (XX - female or XY - male). (uchicago.edu)

Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. (wikipedia.org)
Second, networks of genes and hormones regulate the advancement of sex determination and gonad differentiation, known as the gonadal sex phase. (lidsen.com)
An error during these developmental steps in females may lead to defective gonads, affecting the differentiation and/or function of the gonads and the development, differentiation, and maturity of the germ cells. (lidsen.com)
Among the intersex disorders, pure gonadal dysgenesis with male pseudohermaphroditism is the classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered. (medscape.com)
The WT1 protein mediates the mesenchymal-epithelial transition and differentiation during morphogenesis of the kidney and gonad by repressing genes that encode cell proliferation factors and by activating genes that encode markers of epithelial cell differentiation. (medscape.com)
Point mutations in the WT1 gene result in loss of its regulatory function, with the consequent abnormalities in glomerular formation and gonadal differentiation seen in Denys-Drash syndrome. (medscape.com)
Mutations that disrupt the second alternative splicing site of the WT1 gene alter the normal ratio of KTS-positive/negative isoforms from 2:1 to 1:2 and result in abnormalities in glomerular formation and gonadal differentiation seen in Frasier syndrome. (medscape.com)
Sex differentiation related genes such as SOX9 , FGF9 , DAX1 , WT1 , RSPO1 , and SOX10 , which are located on either autosomes or the X chromosome, may have a role in gonad development and function. (e-kjgm.org)
[ 1 ] Differentiation of the primitive gonad into testis is controlled by a multitude of genes, beginning with the sex-determining region on the Y chromosome (SRY), which is believed to represent the testis-determining factor. (medscape.com)
Time-line of gender verification testing, showing the method used and the resulting gender for individuals with selected disorders of sexual differentiation (DSD), cuenta resultado del ejercicio. (liddogranniestouch.com)

One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. (wikipedia.org)
Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics. (wikipedia.org)
Symptoms include short stature, lymphoedema or swelling of the hands and feet, broad chest and widely-spaced nipples, low hairline, sterility and rudimentary ovalied gonadal streak. (naturalcurefor.com)
These structures are called streak gonads. (medlineplus.gov)
The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. (medlineplus.gov)
They are characterized by the presence of dysgenetic testis and/or streak gonads, with persistence of the Müllerian ducts and inadequate virilization, and classically have a 45,X/46,XY karyotype. (biomedcentral.com)
This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS . (nih.gov)
The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. (blogspot.com)

In embryogenesis, the development of the male gonads is primarily controlled by the testis determining factor located on the sex-determining region of the Y chromosome (SRY). (wikipedia.org)
The male gonad is dependent on SRY and the signalling pathways initiated to several other genes to facilitate testis development. (wikipedia.org)
The aetiology of 46,XY gonadal dysgenesis can be caused by mutations in the genes involved in testis development such as SRY, SOX9, WT1, SF1, and DHH. (wikipedia.org)
Full undermasculinization results in fully external female genitalia and internal testis where the ovaries usually are, which is caused by conditions such as complete androgen insensitivity syndrome. (wikipedia.org)
Figure 1 shows genes responsible for development of the undifferentiated gonad to either a testis or an ovary. (pediatricurologybook.com)
These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
The gonads present may be bilateral ovotestes, or they may be a combination of a unilateral ovary or testis with an ovotestis on the contralateral side. (medscape.com)
Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. (biomedcentral.com)
Our study is the first to evidence the presence of the ECS in the human fetal testis and to highlight the potential adverse effect of cannabis consumption by pregnant women onto the development of the male gonad. (biomedcentral.com)
Interestingly, in the gonad, it is also the only gene that has been found expressed uniquely in the ovary compared to the testis, and likely functions as an antagonist of the testis-determining SOX9 in gonadal development [ 4 ]. (biomedcentral.com)

Pure gonadal dysgenesis 46,XX also known as XX gonadal dysgenesis Pure gonadal dysgenesis 46,XY also known as XY gonadal dysgenesis Mixed gonadal dysgenesis also known as partial gonadal dysgenesis, and 45,X/46,XY mosaicism Turner syndrome also known as 45,X or 45,X0 Endocrine disruptions 46,XX gonadal dysgenesis is characteristic of female hypogonadism with a karyotype of 46,XX. (wikipedia.org)
Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)

This hypothalamic-pituitary-gonadal axis evolves throughout development, from fetal life through adulthood. (biomedcentral.com)
FSH is subject to oestrogen feed-back from the gonads via the hypothalamic pituitary gonadal axis. (wikidoc.org)

Ovotestis refers to the histology of a gonad that contains both ovarian follicles and testicular tubular elements. (medscape.com)
A diagnosis of OT-DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. (medscape.com)
Müllerian duct structures typically develop on the gonadal side not containing testicular tissue. (medscape.com)
Wolffian duct structures tend to be observed on the gonadal side containing functioning testicular tissue. (medscape.com)
Development of external genitalia ranges from apparent female to male genitalia with hypospadias or isolated bilaterally undescended ovotestes (gonads containing ovarian and testicular elements). (orpha.net)
Definitive diagnosis is based on gonadal histology (testicular and ovarian tissue). (orpha.net)
Differential diagnoses include other DSD, including mixed gonadal dysgenesis and 46,XX testicular DSD. (orpha.net)
In the next period, called sex determination (lasting from approximately 6 to 8 weeks of gestation), the bipotent gonadal anlagen eventually develops into ovarian or testicular cells. (e-apem.org)
Low circulating levels of AMH may reflect primary testicular dysfunction, e.g. in certain patients with cryptorchidism, monorchidism, partial gonadal dysgenesis, or central hypogonadism. (biomedcentral.com)
Therefore, it appears evident that the assessment of gonadal function and the definition of male hypogonadism should rely on the understanding of normal testicular physiology resulting from the integrated function of the tubular and interstitial compartments, and its developmental changes from fetal life through maturity [ 5 ]. (biomedcentral.com)

An abnormal postcoital test result is observed in 10% of infertile couples. (medscape.com)
the medical term "dysgenesis" means "abnormal development. (medlineplus.gov)
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. (nih.gov)
These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. (blogspot.com)

Turner type Gonodal Dysgenesis, otherwise known as Turner Syndrome or Ullrich syndrome, is a condition wherein the monosomy of X chromosome is the most ommon, making the female sexual characteristics though present are generally underdeveloped. (naturalcurefor.com)
Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)
Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.com)
Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. (msdmanuals.com)
An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME , a mutation in the GENE, SRY , or a mutation in other autosomal genes that are involved in sex determination. (nih.gov)
Denys-Drash syndrome is the result of mutations in the WT1 gene on chromosome band 11p13. (medscape.com)
The critical gene for male sex determination, SRY (sex-determining region Y), which is located on chromosome Yp11.3, initiates gonads to differentiate into testes, induces Leydig cells to secrete testosterone, develops Wolffian ducts, and forms male external genitalia. (e-kjgm.org)
Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. (blogspot.com)
We speculate that as both ZZ and ZZW individuals develop male gonads, the ratio between the number of Z chromosomes and autosomes, and not the presence of the W chromosome in the genome, drives sex determination in the advanced snakes. (karger.com)

As defined by the World Health Organization, ovarian insufficiency can be caused by a primary disorder in the ovary or it can occur as a result of secondary causes. (medscape.com)

These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. (medlineplus.gov)
The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. (blogspot.com)
In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. (eurospe.org)

SF-1 and WT-1 have influence over gonadal development and subsequent endocrine communication to the Wolffian (mesonephric-blue) and Müllerian (paramesonephric-orange) ducts. (pediatricurologybook.com)
Nuclear receptor subfamily 5 group A member 1 ( NR5A1, also known as SF-1 , AD4BP and FTZF1 ) is a key transcription factor that determines gonadal development and regulates coordinates endocrine functions [ 9 ]. (biomedcentral.com)
In the adult male, the appraisal of the endocrine function of the gonadal axis usually relies on the assessment of serum levels of gonadotropins, testosterone and inhibin B. In pediatric ages, basal testosterone and gonadotropin levels may be largely uninformative. (biomedcentral.com)
The hypothalamic-pituitary-gonadal (HPG) axis plays a crucial and integrative role in the mammalian endocrine regulation to maintain homeostasis. (intechopen.com)

46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. (eurospe.org)
Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. (eurospe.org)

The WT1 protein is a transcription factor predominantly expressed in the embryonic kidneys and gonads. (medscape.com)

Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true hermaphroditism. (medscape.com)
Serum AMH measurements are useful, together with testosterone determination, in the diagnosis of patients with ambiguous genitalia: both are low in patients with gonadal dysgenesis, including ovotesticular disorders of sex development, testosterone is low but AMH is in the normal male range or higher in patients with disorders of androgen synthesis, and both hormones are normal or high in patients with androgen insensitivity. (biomedcentral.com)

Bonaminio G, Fechheimer N: The gonadal histology of triploid chicken ( Gallus domesticus ) embryos. (karger.com)

Malignancy: The vast majority of patients with Denys-Drash syndrome are destined to develop Wilms tumor in the native kidneys and are at significant risk for development of gonadoblastoma in the dysgenetic gonads. (medscape.com)

Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early foetal development. (wikipedia.org)
Interruption during ovarian development in embryogenesis can cause 46,XX gonadal dysgenesis with cases of changes in the FSH receptor and mutations in steroidogenic acute regulatory protein (StAR protein) which regulates steroid hormone production. (wikipedia.org)
In Denys-Drash syndrome, the presence of nephropathy (mesangial sclerosis) and gonadal dysgenesis is associated with the development of Wilms' tumour. (your-doctor.net)
In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. (lidsen.com)
Although this level of plasticity is still found in the fully differentiated gonads, errors like mutations or epigenetic modifications impact ovarian development and, later, folliculogenesis, resulting in infertility. (lidsen.com)
The development of the gonadal and reproductive tract (uterus and vagina in females, and seminal vesicles, prostate glands, and penis in males) starts around E10.5 in mice, and they are almost completely developed at birth. (lidsen.com)
Anatomical resources for either male or female development and variations are present in the early weeks of gestation ( Table 2 ) gonadal ridge, Wolffian (mesonephric) and Müllerian (paramesonephric) ducts, cloaca and subsequent urogenital sinus, genital tubercle and labioscrotal swellings. (pediatricurologybook.com)
Primordial germ cells migrate to the gonadal ridge prior to 6 weeks and the infrastructure to support gonad development is further influenced by various genes. (pediatricurologybook.com)
To investigate the role of laparoscopy for the early detection of gonadal tumours, with emphasis on gonadal preservation, in patients with 46XY disorders of sex development (DSD). (uni-luebeck.de)
We described a novel NR5A1 variant and demonstrated its adverse effects on the functional integrity of the NR5A1 protein resulting in serious impairment of its modulation of gonadal development. (biomedcentral.com)
Internal duct development usually corresponds to the adjacent gonad. (medscape.com)
These conditions may be caused by numerical or structural variations in sex chromosomes as well as autosomes, variations in genes involved in gonadal and/or genital development, and changes in gonadal and/or adrenal steroidogenesis. (e-apem.org)
46,XY and 46,XX DSDs can be further subdivided into the subclasses of disorders of gonadal development, disorders of androgen biosynthesis and excess, and unclassified. (e-apem.org)
The WT1 gene mutations that cause Frasier syndrome lead to the production of a protein with an impaired ability to control gene activity and regulate the development of the kidneys and reproductive organs, resulting in the signs and symptoms of Frasier syndrome. (blogspot.com)
Its action overlaps that of SOX9, though they are antagonistic in female vs male gonadal sex determination but conjoint in cartilage and skeletal development. (biomedcentral.com)
The pleiotropic harmful effects of EDCs act through hormone-dependent downstream signaling pathways responsible for gonad development either through direct interaction with steroid hormone receptor or via epigenetic regulation. (intechopen.com)
Clinton M: Sex determination and gonadal development: a bird's eye view. (karger.com)

In the XX newborn, gonads are not palpable, which classically leads to the diagnosis of female pseudohermaphroditism. (health.am)
In patients with DSD, gonadectomy is frequently recommended and depending on the age and the molecular diagnosis, an increased gonadal tumour risk exists and undesired hormone effects may arise. (uni-luebeck.de)
A gonadal biopsy may ultimately be necessary for the diagnosis. (uchicago.edu)

This results in the phenotype corresponding to the karyotype (46,XX for females and 46,XY for males). (wikipedia.org)
46,XY gonadal dysgenesis is characteristic of male hypogonadism with karyotype 46,XY. (wikipedia.org)
Our modeling results suggest that during Triatominae diversification, at least nine cladogenetic events may be associated with karyotype change. (bvsalud.org)
SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. (biomedcentral.com)

Turner syndrome (TS) is characterized by gonadal dysgenesis, short stature, and dysmorphic features (neck webbing amongst others). (biomedcentral.com)

Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.com)
Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of congenital nephropathy, Wilms tumor , and intersex disorders resulting from mutations in the Wilms tumor suppressor ( WT1 ) gene. (medscape.com)

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in humans. (wikipedia.org)
Neither cross resulted in hybrids, demonstrating that there are pre-zygotic reproductive barriers installed between T. petrocchiae and the other species of the T. brasiliensis complex. (bvsalud.org)
And both systems experience maturation of their reproductive organs, which become functional during puberty as a result of the gonads secreting sex hormones. (wikibooks.org)

Although both sexes can be affected, the presence of intersex disorders makes the estimation of the male-to-female ratio misleading because individuals with Denys-Drash syndrome who are assigned the female gender may be genotypic males (XY gonadal dysgenesis with female phenotype). (medscape.com)

In the absence of aromatase, androgens cannot be converted to estrone, estradiol or estriol, and large quantities of androstenedione and testosterone are transferred to the maternal and fetal circulation, resulting in masculinization of the urogenital sinus and external genitalia of the female fetus. (health.am)

Instead, the gonads are small and underdeveloped and contain little gonadal tissue. (medlineplus.gov)

Malignant gonadal tumors are rare (less than 3% of cases). (orpha.net)
Childhood extracranial germ cell tumors are grouped as gonadal or extragonadal extracranial tumors. (cigna.com)
Gonadal germ cell tumors form in the gonads (testicles and ovaries). (cigna.com)
Extragonadal extracranial germ cell tumors form in areas of the body other than the brain or gonads (testicles and ovaries). (cigna.com)

The hormonal sex is determined through the gonads, testicles in men, and ovaries in women, as well as by other glands (pituitary and thyroid) responsible for male and female traits. (bvsalud.org)

Thus, the hybrids resulting from the cross between T. sordida and T. rosai presented segregation of phenotypic characters of both parental species, 100% homeology between homeologous chromosomes, phylogenetic relationship with T sordida and with T. rosai (with CytB and ITS-1, respectively), and, finally, feeding and defecation patterns similar to the parents. (bvsalud.org)

Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying causes. (wikipedia.org)

In case of insufficiency of the luteal phase, hypofunction of the corpus luteum occurs, a decrease in the level of progesterone in the blood plasma, insufficient secretory transformation of the epithelium, and as a result, impaired implantation of the embryo. (clomid-info.com)
Using the bicoid 3' UTR, localized Toll(10b) products result in the formation of an ectopic, anteroposterior (AP) Dl nuclear gradient along the length of the embryo. (sdbonline.org)
These results raise the possibility that Toll signaling components diffuse in the plasma membrane or syncytial cytoplasm of the early embryo (Huang, 1997). (sdbonline.org)

In complete gonadal dysgenesis, a highly variable morphology of the gonads was found. (uni-luebeck.de)

We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting gonadal cells or germ cells of both sexes. (lidsen.com)

12 ] described the first two NR5A1 variants in individuals with 46,XY DSD who presented primary adrenal insufficiency and complete gonadal dysgenesis. (biomedcentral.com)

No palpable gonads. (ijcrr.com)

At the formation of the developed gonad, steroid production influences local and distant receptors for continued morphological and biochemical changes. (wikipedia.org)
The biological elements involve genetic, hormonal and morphological sex aspects from which result in a person's physical configuration. (bvsalud.org)

Laparoscopy improved exposure of gonads and Müllerian structures, and facilitated biopsies and organ-preserving procedures. (uni-luebeck.de)

In striking contrast, complete deletions of band 11p13 result in the Wilms tumor, aniridia, genitourinary malformations, and mental retardation (WAGR) syndrome , which is characterized by structural urinary tract abnormalities without nephropathy. (medscape.com)
Serum AMH is undetectable in patients with congenital or acquired anorchidism, or with complete gonadal dysgenesis. (biomedcentral.com)

A disruption of this process may result in anovulation and ovarian steroid hormone deficiency. (medscape.com)

In CAIS, gonadopexy improved the visibility of the gonads on postoperative ultrasonography. (uni-luebeck.de)

Nevertheless, it negatively affects the ontogenesis of male gonads and brain areas homologous to the mammalian hippocampus, as well as body size and fitness. (frontiersin.org)

Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. (blogspot.com)

Gonadal dysgenesis (Shereshevsky-Turner syndrome), chronic renal failure (decreased kidney function by more than 50%) in the prepubertal period. (ironbro.co)

Anatomy10

Diseases20

Chemicals and Drugs7

Analytical, Diagnostic and Therapeutic Techniques and Equipment6

Psychiatry and Psychology2

Phenomena and Processes13

Anthropology, Education, Sociology and Social Phenomena1

Information Science2

Chromosomal8

Differentiation10

Streak8

Testis10

Pure Gonadal Dy2

Hypothalamic-pitu2

Testicular10

Abnormal4

Chromosome9

Ovary1

Testes3

Endocrine4

Partial2

Kidneys and gonads1

Ovotesticular3

Histology1

Dysgenetic1

Development17

Diagnosis3

Karyotype4

Short stature1

Mutations2

Reproductive3

Intersex1

Fetal1

Tissue1

Tumors4

Testicles1

Chromosomes1

Manifestations1

Embryo3

Morphology1

Pathways1

Adrenal1

Palpable1

Morphological2

Structures1

Complete2

Steroid hormone1

Ultrasonography1

Homologous1

Females1

Turner1