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*  Gonadoblastoma
... is most often associated with an abnormal chromosomal karyotype, gonadal dysgenesis, or the presence of a Y ... Gonadoblastoma has been found in association with androgen insensitivity syndrome, mixed gonadal dysgenesis and Turner syndrome ... A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature ... Gonadoblastomas can contain elements of both germ cells and gonadal stroma. Formerly, gonadoblastoma was sometimes regarded as ...
*  Gender taxonomy
... other types of gonadal dysgenesis) Hormones (androgens: including testosterone; estrogens, including estradiol, estriol, ...
*  Gonadal dysgenesis
XX gonadal dysgenesis, also pure gonadal dysgenesis, 46,XX Swyer syndrome, also pure gonadal dysgenesis, 46,XY Perrault ... XX gonadal dysgenesis + sensorineural hearing loss Mixed gonadal dysgenesis Exposure to environmental endocrine disruptors ... Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by a progressive loss of ... As a result, if a gonad cannot express its sexual identity via its hormones-as in gonadal dysgenesis-then the affected person, ...
*  XY gonadal dysgenesis
Types include: There are several forms of gonadal dysgenesis. The term "pure gonadal dysgenesis" (PGD) has been used to ... Gonadal dysgenesis Stoicanescu D, Belengeanu V, et al. (2006). "Complete Gonadal Dysgenesis With XY Chromosomal Constitution". ... and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis. Swyer ... "A familial 46 XY gonadal dysgenesis and high incidence of embryonic gonadal tumors". Chinese Journal of Cancer Research. 6 (2 ...
*  XX gonadal dysgenesis
Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. ... The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to ... In contrast XX gonadal dysgenesis has a normal female chromosome situation. Another type of XX gonadal dysgenesis is known as ... In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs. XX gonadal dysgenesis is a type of ...
*  List of OMIM disorder codes
SRY 46XY complete gonadal dysgenesis; 233420; DHH 46XY complete gonadal dysgenesis; 400044; SRY 46XY gonadal dysgenesis, ... NR5A1 46XY gonadal dysgenesis, complete, CBS2-related; 613080; CBX2 46XY partial gonadal dysgenesis, with minifascicular ... ACE Renal tubular dysgenesis; 267430; AGT Renal tubular dysgenesis; 267430; AGTR1 Renal tubular dysgenesis; 267430; REN Renal- ... PIK3CA Ovarian dysgenesis 1; 233300; FSHR Ovarian dysgenesis 2; 300510; BMP15 Ovarian hyperstimulation syndrome; 608115; FSHR ...
*  45,X/46,XY mosaicism
XY mixed gonadal dysgenesis. Orfa.net; August 2015. Donahoe PK, Crawford JD, Hendren WH (1979). "Mixed gonadal dysgenesis, ... 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of sex development in ... Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (October 2002). "True hermaphroditism and mixed gonadal dysgenesis in young ... Gonadal dysgenesis Mosaic (genetics) Turner syndrome [1] "45,X/46,XY including Y chromosome rearrangements". (PDF) Rarechromo. ...
*  Frasier syndrome
Frasier, SD; Bashore, SD; Bashore, RA; Mosier, HD (May 1964). "Gonadoblastoma associated with pure gonadal dysgenesis in ... Its role as a transcription factor is related to proper kidney and gonadal development. The link between kidney and gonadal ...
*  XX male syndrome
XY gonadal dysgenesis (Swyer syndrome) de la Chapelle, A (January 1972). "Analytic review: nature and origin of males with XX ... In some cases gonadal surgery can be performed to remove partial or whole female genitalia. This may be followed by plastic and ...
*  Ovotestis
In humans, ovotestes are an anatomical abnormality associated with gonadal dysgenesis. In invertebrates that are normally ... 6) Ovotestis within B6-XYPOS mice allow for gonadal development research within the same tissue to take place in ways ...
*  Premature ovarian failure
If it has a genetic cause, it may be called gonadal dysgenesis. The term "primary ovarian insufficiency" was first used in 1942 ...
*  XYY syndrome
"A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)". Lancet. 273 (7075): 711-3. doi:10.1016/S0140- ...
*  Male reproductive system
"A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)". Lancet. 1 (7075): 711-3. doi:10.1016/S0140-6736( ... Maturation continues as the medial aspect of each mesonephros grows to form the gonadal ridge. The gonadal ridge continues to ... By week six, string-like cell congregations called primary sex cords form within the enlarging gonadal ridge. Externally, a ...
*  Follicle-stimulating hormone receptor
There are forms of 46 xx gonadal dysgenesis wherein abnormalities in the FSH-receptor have been reported and are thought to be ... Women with 46 XX gonadal dysgenesis experience primary amenorrhea with hypergonadotropic hypogonadism. ...
*  Turner syndrome
Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH (1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis ( ... underdeveloped gonadal structures that later become fibrotic) Amenorrhoea, the absence of a menstrual period Increased weight, ... and widely spaced nipples Low posterior hairline Low-set ears Reproductive sterility Rudimentary ovaries gonadal streak ( ...
*  XY sex-determination system
FORD CE, JONES KW, POLANI PE, DE ALMEIDA JC, BRIGGS JH (Apr 4, 1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis ...
*  M33 (gene)
In humans, the mutations in this gene are also associated with gonadal dysgenesis. Compound heterozygous mutations in M33 were ... 1998) indicates that homozygous M33-mutant mice represent the first case in which male-to-female gonadal sex reversal results ... suggesting that Cbx2 is required for the expression of Sry in gonadal development. Moreover, the deficient of M33 also ...
*  2q37 deletion syndrome
1998). "Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome". Clin. Genet. 53 (4): 278-80. doi: ...
*  True hermaphroditism
Although similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically. External ... "True Hermaphroditism and Mixed Gonadal Dysgenesis in Young Children: A Clinicopathologic Study of 10 Cases". Modern Pathology. ... There are no documented cases in which both types of gonadal tissue function. Although fertility is possible in true ... caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and ...
*  Androgen insensitivity syndrome
Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (October 2002). "True hermaphroditism and mixed gonadal dysgenesis in young ... XX gonadal dysgenesis (46,XX karyotype) Leydig cell agenesis or hypoplasia, not otherwise specified (46,XY karyotype) Absent ( ... Mixed gonadal dysgenesis (45,XO/46,XY karyotype) Tetragametic chimerism (46,XX/46,XY karyotype) Androgen biosynthetic ... Ahmed SF, Cheng A, Hughes IA (April 1999). "Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome". ...
*  Amenorrhea
Gonadal dysgenesis, often associated with Turner's Syndrome, or premature ovarian failure may also be to blame. If secondary ... R-metHuLeptin has appeared effective in restoring defects in the hypothalamic-pituitary-gonadal axis and improving reproductive ...
*  Desert hedgehog (protein)
Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy ... Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy ... This protein may be involved in both male gonadal differentiation and perineurial development. GRCh38: Ensembl release 89: ... This protein may be involved in both male gonadal differentiation and perineurial development. ...
*  Sexual differentiation in humans
A form of complete gonadal dysgenesis, mostly due to mutations in the first step of sex determination; the SRY genes. A 5-alpha ... Many other genes found on other autosomes, includingWT-1, SOX9, SF-1 also play a role in gonadal development. Females: Without ... It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal ...
*  Testis-determining factor
XY gonadal dysgenesis: its relevance to the understanding of sex differentiation". Medicine (Baltimore). 70 (6): 375-83. doi: ... "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis". Am. J. ... The SF1 protein, on its own, leads to minimal transcription of the SOX9 gene in both the XX and XY bipotential gonadal cells ...
*  DNA transposon
The Hobo transposons in Drosophila have been extensively studied due to their ability to cause gonadal dysgenesis. The ...
*  Follicle-stimulating hormone
... menopause also known as Premature Ovarian Failure Poor ovarian reserve also known as Premature Ovarian Aging Gonadal dysgenesis ... FSH is subject to oestrogen feed-back from the gonads via the hypothalamic pituitary gonadal axis. FSH stimulates the growth ... Diminished secretion of FSH can result in failure of gonadal function (hypogonadism). This condition is typically manifested in ... Infertility Kallmann syndrome Hypothalamic suppression Hypopituitarism Hyperprolactinemia Gonadotropin deficiency Gonadal ...
*  High-dose estrogen
"High-dose estrogen-progestogen injections in gonadal dysgenesis, ovarian hypoplasia, and androgen insensitivity syndrome: ... Smith KP, Madison CM, Milne NM (2014). "Gonadal suppressive and cross-sex hormone therapy for gender dysphoria in adolescents ... and in men are able to completely suppress gonadal androgen production and reduce testosterone levels into the castrate range. ...