Occurs gonadal dysgenesis 46 xx. Medical search. Frequent questions

XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. (wikipedia.org)
however in Swyer syndrome the karyotype is 46,XY, and thus gonadectomy is recommended. (wikipedia.org)
The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). (wikipedia.org)
Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome ( 46,XY karyotype ). (medlineplus.gov)
is seminiferous tubule dysgenesis associated with the 47,XXY karyotype, in which an extra X chromosome is acquired through maternal or, to a lesser extent, paternal meiotic nondisjunction. (msdmanuals.com)
This karyotype can be associated with mixed gonadal dysgenesis in both boys and girls, depending on the tissue distribution of the 45,X and 46,X(r)Y cell lines. (juniperpublishers.com)
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)
Her karyotype is mosaic 45,X/46,XY. (obgynstudent.com)
Sex development starts with the initial setting of either a 46,XX or a 46,XY karyotype. (e-apem.org)
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). (ctsicn.org)
however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. (ctsicn.org)

In contrast XX gonadal dysgenesis has a normal female chromosome situation. (wikipedia.org)
Turner syndrome, one of the most common chromosomal abnormalities, occurs when there is a complete or partial absence of one sex chromosome in a female. (gponline.com)
The gender of a developing baby is determined at conception, when the embryo has either two XX chromosomes, or an X and a Y chromosome. (chkd.org)
The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)
A ring chromosome is an extremely rare chromosomal aberration, which can occur in autosomes and sex chromosomes. (juniperpublishers.com)
If the Y chromosome, SRY gene and TDF are absent (XX female), then the lack of testosterone and presence of maternal estrogens stimulate the development of female external genitalia. (uchicago.edu)
According to the Chicago classification (2006), DSDs can be classified into 3 categories: sex chromosome DSDs, which include Turner syndrome and Klinefelter syndrome, as well as 45,X/46,XY and 46,XX/46,XY variants. (e-apem.org)
Turner Syndrome occurs when the second sex chromosome is either incomplete or missing completely. (homeodoctor.co.in)
It has been hypothesized that in gonadal dysgenesis various deletions on the X chromosome cause such rapid atresia of oocytes 5 that few girls with this condition reach puberty with functioning ovaries. (ldysinger.com)

In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 46,XY. (wikipedia.org)
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)
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)
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)

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)
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)
Female infants have 6 to 7 million oocytes at 20 weeks of gestation, when progressive atresia occurs, resulting in 1 to 2 million oocytes at birth, approximately 25,000 at the age of 37 years, and 1000 at the age of 51 years, the average age of natural menopause in the United States. (ldysinger.com)

Disorders of sex differentiation, also known as disorders of sexual development or DSD, are conditions in which the sexual development that occurs during fetal growth does not happen as it should. (choc.org)
The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis. (choc.org)
Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
Errors of sex determination and gonadal development, such as gonadal dysgenesis (46,XX or 46,XY) and testicular and ovotesticular disorders of sex development, represent rare forms of male hypogonadism. (msdmanuals.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)
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)
DSDs range from common disorders like cryptorchidism to very rare and complex conditions like complete XX or XY sex reversal. (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)
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)

In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis. (wikipedia.org)
Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
The chromosomes are referenced as 46, XX, for a normal female or 46, XY, for a normal male. (choc.org)
People usually have 46 chromosomes in each cell. (medlineplus.gov)
You have 46 chromosomes in each cell of your body. (chkd.org)
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)
Or a person may be born with mosaic genetics, so that some of her cells have XX chromosomes and some of them have XY. (damienmarieathope.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)
Thus, testicular tissue must have been present during the first 12 weeks of embryogenesis because testicular differentiation occurred and testosterone and müllerian-inhibiting factor were produced. (msdmanuals.com)
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)

Leydig cell aplasia occurs when congenital absence of Leydig cells causes partially developed or ambiguous external genitals. (msdmanuals.com)
An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition. (icd10coded.com)
Serum AMH is undetectable in patients with congenital or acquired anorchidism, or with complete gonadal dysgenesis. (biomedcentral.com)

however, overtly ambiguous genitalia may occur in one in 4,500 live births, and complete XX or XY sex reversal with unequivocal male or female phenotype at birth is estimated to exist in one in 20,000 live births [ 2 ]. (e-apem.org)
On the C57BL/6J background, embryos homozygous for byg exhibit consistent XY gonadal sex reversal. (plos.org)
We identified a mouse mutant that causes embryonic gonadal sex reversal: the development of ovaries in an XY embryo. (plos.org)

Perrault syndrome is a sex-influenced disorder that is characterized by progressive, sensorineural deafness coupled with ovarian dysgenesis or premature ovarian failure (streak gonads), amenorrhea, and infertility in females. (preventiongenetics.com)

Some forms of XX gonadal dysgenesis occurs with sensorineural deafness. (wikipedia.org)

citation needed] The consequences to the girl with XX gonadal dysgenesis:[citation needed] Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen. (wikipedia.org)
Instead, the gonads are small and underdeveloped and contain little gonadal tissue. (medlineplus.gov)
In the XX newborn, gonads are not palpable, which classically leads to the diagnosis of female pseudohermaphroditism. (health.am)

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)
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)
The hypothalamic-pituitary-gonadal (HPG) axis plays a crucial and integrative role in the mammalian endocrine regulation to maintain homeostasis. (intechopen.com)
Endocrine-disrupting chemicals (EDCs) comprise a diverse group of naturally occurring and synthetic compounds that mimic and interfere with the endogenous chemical hormones. (intechopen.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)

Premature ovarian insufficiency (failure) is defined when ovarian failure occurs before the age of forty. (rajeevclinic.com)

A great proportion of 46,XY is caused by mutations in key transcription factors required for sex differentiation and androgen biosynthesis or action [ 2 ]. (biomedcentral.com)
Second, networks of genes and hormones regulate the advancement of sex determination and gonad differentiation, known as the gonadal sex phase. (lidsen.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)
Metaplastic theory suggests the differentiation of serosal surfaces or celomic epithelium into endometrial tissue, and arguments given in favour include the fact that endometriosis can also occur in patients with uterine agenesis, gonadal dysgenesis, and Turner syndrome [ 12 ]. (polradiol.com)

The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. (wikipedia.org)
Cardiovascular complications can occur in around 20% of patients with Turner syndrome (see box). (gponline.com)
However, spontaneous puberty can occur in around 5-15% of patients. (gponline.com)

If by age 13 menses has not occurred and the onset of puberty, such as breast development, is absent, a workup for primary amenorrhea should start. (medscape.com)
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)
the medical term "dysgenesis" means "abnormal development. (medlineplus.gov)
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)
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)
This hypothalamic-pituitary-gonadal axis evolves throughout development, from fetal life through adulthood. (biomedcentral.com)
However, it is also possible that such genetic defects result in a smaller complement of oocytes during gonadal development. (ldysinger.com)

At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis. (wikipedia.org)
History, examinations, and assistant examinations were available for clinical diagnosis of 46,XY DSD. (biomedcentral.com)
We implemented both approaches in parallel in the diagnosis of a Chinese adolescent with 46,XY DSD. (biomedcentral.com)
According to the medical history, physical examinations, karyotyping, gonadotropin levels test, and ultrasound examinations, it was not difficult to obtain clinical diagnosis as 46,XY DSD. (biomedcentral.com)
Diagnosis is by measurement of gonadal hormones (testosterone and/or estradiol), luteinizing hormone, and follicle-stimulating. (msdmanuals.com)
A gonadal biopsy may ultimately be necessary for the diagnosis. (uchicago.edu)

As girls' ovaries produce no important body changes before puberty, there is usually no suspicion of a defect of the reproductive system until puberty fails to occur. (wikipedia.org)
Interestingly, ovaries occur more commonly on the left side than the right. (medscape.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)

39(3): 269-274, 2023 Mar 20. (bvsalud.org)

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

Apparently either the germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia so that at the end of childhood only a streak gonad is present, unable to induce pubertal changes. (wikipedia.org)
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)

Recurring supersecondary structures characterized by 20 amino acids folding into two alpha helices connected by a non-helical "loop" segment. (lookformedical.com)

It occurs in around one in 2,500 live female births. (gponline.com)
The menstrual cycle is an orderly progression of coordinated hormonal events in the female body that stimulates growth of a follicle to release an egg and prepare a site for implantation if fertilization should occur. (medscape.com)
It occurs in about 1% of the female population. (rajeevclinic.com)
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)
When a combination of female and male factors of infertility occurs, the term "combined infertility" is used. (clomid-info.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)

Turner syndrome is also sometimes called gonadal dysgenesis. (gponline.com)
Scoliosis occurs in around 10% of adolescent girls with Turner syndrome and may contribute to short stature. (gponline.com)
Turner Syndrome is also known as Gonadal Dysgenesis. (homeodoctor.co.in)

The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. (medlineplus.gov)

Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. (wikipedia.org)
Swyer syndrome occurs in approximately 1 in 80,000 people. (medlineplus.gov)

Compared with other age stages, adolescents with 46,XY DSD face additional medical and psychological challenges, which are particularly prominent and difficult for newly diagnosed adolescents [ 3 ]. (biomedcentral.com)

citation needed] Another type of XX gonadal dysgenesis is known as 46,XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid (eye disorder). (wikipedia.org)
citation needed] Familial cases of XX gonadal dysgenesis are on record. (wikipedia.org)

Ovulation occurs approximately 34-36 hours after the onset of the LH surge or 10-12 hours after the LH peak and 24-36 hours after peak E2 levels. (medscape.com)
The tumor (see the images below) occurs in both hereditary and sporadic forms, and approximately 6% are bilateral. (medscape.com)

Transient hypothyroxinemia (low free T4, normal TSH,) occurs in ~50% of premature infants. (torontocentreforneonatalhealth.com)

Primary amenorrhea is the failure of menses to occur by age 16 years, in the presence of normal growth and secondary sexual characteristics. (medscape.com)
In a classic study of normal women undergoing donor insemination, pregnancy rates at one year declined from 74.0 percent among 20-year-olds to 61.5 percent among women between the ages of 31 and 35 years and to 55.8 percent among women between the ages of 36 and 40 years. (ldysinger.com)

Leiomyosarcoma is a malignant non-epithelial smooth muscle tumor that can occur anywhere in the body. (nepjol.info)

The clinical, molecular, and cytogenetic findings in a boy with 45,X/46,X(r)Y mosaicism are described here. (juniperpublishers.com)

Gonadal failure is treated with estrogens and progesterone. (gponline.com)

Background staining occurs in wild type mice and embryos at an incidental rate. (mousephenotype.org)

Leydig cell hyperplasia may also occur with aging. (medscape.com)

Anatomy9

Diseases21

Chemicals and Drugs7

Analytical, Diagnostic and Therapeutic Techniques and Equipment6

Psychiatry and Psychology2

Phenomena and Processes12

Anthropology, Education, Sociology and Social Phenomena1

Information Science1

Karyotype11

Chromosome9

Chromosomal4

Weeks of gestat3

Disorders9

Chromosomes7

Testicular5

Congenital3

Reversal3

Streak gonads1

Sensorineural deafness1

Gonads3

Endocrine5

Ovarian1

Differentiation5

Patients3

Development7

Diagnosis6

Ovaries2

Ovary1

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Adrenal1

Germ2

Structures1

Female5

Male1

Turner Syndrome3

Tissue1

Swyer2

Adolescents1

Citation2

Approximately2

Premature1

Normal2

Tumor1

Clinical1

Failure1

Embryos1

Leydig1