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Topic: Gonadal dysgenesis, XY female type

	XX gonadal dysgenesis - Wikipedia, the free encyclopedia
		XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46, XX.
		Her gonads cannot make progesterone, so her menstrual periods will not be predictable until she is given a progestin, still usually as a pill.
		The XX gonadal dysgenesis is the related to the Swyer syndrome inasmuch as both conditions have the same phenotype and clinical issues, however in Swyer syndrome the chromosome constellation is 46, XY, and thus requires gonadectomy.
	en.wikipedia.org /wiki/XX_gonadal_dysgenesis (711 words)

	Bebunking X and Y - The Reggae Boyz Forum
		Their endorsement of an XY chromosome article genuine in itself, and extrapolate meaning of scientific Nomenclature symbols XY as a universal language to describe narrowly the meaning of XY and somehow associate this with an individual serves as a classic examples of this cognitive underdevelopment and pointedly evidences examples of a concrete thinking mindset.
		Xy represents a classification or taxonomy and is used to indicate ‘the unknown’ under principles of general scientific convention.
		XY chromosome, at no time did I indicate that I represented any chromosome, but due to your innate tendencies (frame of reference) you could not resist the urge of latching onto what you know: yaad man sey bird of a feather ‘stuck’ together, dats you ‘Dick’ and your chromosome twin ‘Moby’, your psuedo tells all.
	www.thereggaeboyz.com /ubb/Forum1/HTML/014810.html (6360 words)

	DBGET Result: OMIM 480000
		Mutations in this gene give rise to XY females with gonadal dysgenesis (one type of Swyer syndrome, 306100) and translocation of part of the Y chromosome containing this gene to the X chromosome in XX males (278850).
		XY mice that were mutant for all 3 receptors developed ovaries and showed a completely female phenotype.
		XY mice with this mutation are fertile females, although fertility is reduced and their ovaries fail early, a picture similar to that in the patient reported by Brown et al.
	www.genome.ad.jp /dbget-bin/www_bget?omim+480000 (6492 words)

	UNSW Embryology-OMIM GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY
		Gonadal dysgenesis, XY female type, is associated with point mutations or deletions of the SRY gene (480000), but also in some cases with changes in the X chromosome.
		A high incidence of neoplasia (gonadoblastomas and germinomas) in streak gonads of patients with the XY karyotype was claimed by Taylor et al.
		One of the males had 8 children; all were phenotypic females, 2 of whom were sex-reversed XY females carrying the mutation mentioned.
	embryology.med.unsw.edu.au /OMIMfind/gonad/OMIM-306100.htm (3240 words)

	Congenital Anomalies and Inherited Disorders of the Horse
		XY female type, Swyer syndrome, Sry -XX hermaphroditism, and XX male pseudohermaphroditism.
		An example is a horse with stallion-like behaviour with gonads retained in the abdomen which histologically were testes but, when karyotyped (looking at the chromosomes), the stallion had the normal 64 chromosomes, two of which were XX (female) chromosomes.
		These types of abnormalities are usually a part of a larger picture where other congenital abnormalities related to the urogenital tract are present.
	omafra.gov.on.ca /english/livestock/horses/facts/info_congenital.htm (2524 words)

	DBGET Result: OMIM 306100
		At birth the patients with the XY female type of gonadal dysgenesis (Swyer syndrome) appear to be normal females; however, they do not develop secondary sexual characteristics at puberty, do not menstruate, and have 'streak gonads.' They are chromatin negative and have a 46,XY karyotype.
		The gonads begin to develop as ovaries, but in the absence of the second X chromosome, the germ cells die, the follicles become atretic, and the ovaries degenerate.
		In the human sex-determining region in a 35-kb interval near the pseudoautosomal boundary of the Y chromosome, there is a candidate gene for testis-determining factor, termed SRY ('sex-reversed, Y,' from mouse terminology), which is conserved and specific to the Y chromosome in all mammals tested (Sinclair et al., 1990); see 480000.
	www.genome.ad.jp /dbget-bin/www_bget?omim+306100 (3218 words)

	Xy Female
		Northwestern on trail of gene mutations that trigger sex reversal
		XY female mice resulting from a heritable mutation in the primary...
		XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy...
	www.medicality.org.uk /diseases/xy-female.php (204 words)

	Gonadal Histology with Testicular Carcinoma in Situ in a 15-Year-Old 46,XY Female Patient with a Premature Termination ...
		Gonadal Histology with Testicular Carcinoma in Situ in a 15-Year-Old 46,XY Female Patient with a Premature Termination in the Steroidogenic Acute Regulatory Protein Causing Congenital Lipoid Adrenal Hyperplasia -- Korsch et al.
		Gonadal Histology with Testicular Carcinoma in Situ in a 15-Year-Old 46,XY Female Patient with a Premature Termination in the Steroidogenic Acute Regulatory Protein Causing Congenital Lipoid Adrenal Hyperplasia
		-reductase type 2 gene for the diagnosis of 5
	jcem.endojournals.org /cgi/content/full/84/5/1628 (3178 words)

	Swyer syndrome
		Swyer's syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype.
		This tumor arises on dysgenesic gonads with a Y chromosome.
		Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her Y chromosome.
	www.lymphedemapeople.com /thesite/swyer_syndrome.htm (4078 words)

	XY Female at The Medical Dictionary
		Swyer syndrome, or XY gonadal dysgenesis, is a type of female hypogonadism in which no functional gonads are present to induce puberty in an otherwise normal girl whose karyotype is then found to be XY.
		The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging).
		Her gonads cannot produce eggs so she will not be able to conceive children the natural way.
	the-medical-dictionary.com /xy_female.htm (889 words)

	XY Female Pregnancy by M. Italiano (Site not responding. Last check: 2007-09-22)
		However, another syndrome, XY gonadal dysgenesis or the XY sex reversal syndrome(1) is convincing enough, to require that even some persons with a normal Y chromosome must be regarded as female.
		A disturbance with any of these genes, or possibly environmental influences, may cause an XY person to become a female with a uterus and ONLY female anatomy, who is capable of giving birth.
		Although these females have ovarian tissue which degenerates prematurely(11),when they are provided with donor eggs, their giving birth to single pregnancies(5,8), twin pregnancies(6), and even more than one successive pregnancy(7), leaves us with a new indisputable fact: XY can sometimes equal female.
	www.gendercare.com /library/italiano_paper3.html (440 words)

	Question and Answers About Mixed Gonadal Dysgenesis - Detroit, Michigan, MI, Henry Ford
		Gonadoblastomas (type of testes cancer) are rare tumors in the general popula-tion but are associated with gonadal dysgenesis and, more specifically, the Y chromatin.
		Female outward appearance and intra-abdominal testes also are risk factors.
		Your sons chromosomes have a mixture of XY and XO so the risks are not clear.
	www.henryfordhealth.org /19178.cfm (530 words)

	UniProtKB/Swiss-Prot entry Q05066 [SRY_HUMAN] Sex-determining region Y protein
		They suffer rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma.
		In contrast, subjects with 46,XY partial gonadal dysgenesis have ambiguous genitalia, a mix of Muellerian and Wolffian structures, and dysgenic gonads.
		It is characterized by gonadal dysgenesis with short stature, "streak gonads", variable abnormalities such as webbing of the neck, cubitus valgus, cardiac defects, low posterior hair line.
	www.expasy.org /uniprot/Q05066 (1392 words)

	GeneCard for SRY (Site not responding. Last check: 2007-09-22)
		A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.
		Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
		True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.
	bioinfo.cnio.es /cgi-bin/genecards/carddisp?SRY&pubmed=46 (737 words)

	Abstracts2'00 (Site not responding. Last check: 2007-09-22)
		Development of types of vaccines against AIDS is being discussed.
		This report studies two patients of 16 and 17 years of age with delayed pubertal development.Clinical examination and laboratory investigations showed female fenotype, apparently normal female features including external genitalia and primary gonadal failure indicated by hypergonadotropic sexual infantilism: eunuchoid skeletal proportions delayed bone age and infantile internal genitalia with streak gonads.
		Results have been assessed on the base of genetic heterogeneity, stressing on complete 46,XY gonadal dysgenesis (Swyer syndrome) as a failure of testicular differentiation.
	www.medicalnet-bg.org /bpa/pabs2'00.html (2450 words)

	GeneCard for SRY
		Vilain E. A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.
		Su H. and Lau Y.-F.C. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.
		Fellous M. Defective calmodulin-mediated nuclear transport of the sex-determining regionof the Y chromosome (SRY) in XY sex reversal.
	www.genecards.org /cgi-bin/carddisp.pl?gene=SRY (1000 words)

	Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells -- Bouma et al. 132 ...
		Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells -- Bouma et al.
		Confocal and whole-mount immunohistochemical analyses of marker gene expression and gonad morphology in B6 E12.5 and E13.5 gonad-mesonephros complexes.
		The effect of Chr 8 on the tendency to produce females differs depending on the allelic stage of Chr 1, and Chr 1 has an effect on the sex ratio only when the Chr 8 locus is heterozygous.
	dev.biologists.org /cgi/content/full/132/13/3045 (6350 words)

	Medical Dictionary: Pure gonadal dysgenesis 46, XY - WrongDiagnosis.com - WrongDiagnosis.com
		Medical Dictionary: Pure gonadal dysgenesis 46, XY Introdution: Pure gonadal dysgenesis 46, XY Pure gonadal dysgenesis 46, XY: This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilateral streak or dysgenetic gonads, and a 46,XY karyotype.
		This XY gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome, a mutation in SRY gene or a mutation in autosomal genes.
		The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (GONADAL DYSGENESIS, 46,XX).
	wrongdiagnosis.com /medical/pure_gonadal_dysgenesis_46_xy_printer.htm (213 words)

	viewANDmorbid
		Heterocellular hereditary persistence of fetal hemoglobin- Swiss type (2)
		Heterocellular hereditary persistence of fetal hemoglobin Swiss type
		Glycogenosis X-linked hepatic type I (3); Glycogenosis X-linked
	www.fortunecity.com /skyscraper/epson/1227/genetics/chromoxy.htm (683 words)

	Testicular Dysgenesis without Adrenal Insufficiency in a 46,XY Patient with a Heterozygous Inactive Mutation of ...
		Testicular Dysgenesis without Adrenal Insufficiency in a 46,XY Patient with a Heterozygous Inactive Mutation of Steroidogenic Factor-1 -- Hasegawa et al.
		Testicular Dysgenesis without Adrenal Insufficiency in a 46,XY Patient with a Heterozygous Inactive Mutation of Steroidogenic Factor-1
		Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL 2002 Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
	jcem.endojournals.org /cgi/content/full/89/12/5930 (3034 words)

	Birth Disorder Information Directory - S
		Sandhoff Disease (Type I is from birth, but some of these links include info on Type II and/or Adult Onset as well)
		Type 1 (Bulldog Syndrome; Dysplasia Gigantism Syndrome, X-Linked; Golabi-Rosen Syndrome; Simpson Dysmorphia Syndrome)
		Type II (Spinocerebellar Ataxia, Type VII; Olivopontocerebellar Atrophy (OPCA), Type III; OPCA with Retinal Degeneration/Macular Degeneration and External Ophthalmoplegia)
	www.bdid.com /defects.htm (436 words)

	Mixed gonadal dysgenesis : Definition(s) from the Unified Medical Language System ® Diseases Database (Site not responding. Last check: 2007-09-22)
		Mixed gonadal dysgenesis : Definition(s) from the Unified Medical Language System ®
		"A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants.
		Content is not asserted complete or error free, please see also our disclaimer.
	www.diseasesdatabase.com /umlsdef.asp?glngUserChoice=29266 (157 words)

	Reproductive Physiology 2
		WL Hurley’s comprehensive Lactation Biology course has disappeared from the web.
		Report of a case of XY pure gonadal dysgenesis
		There was an excellent article on BioMedNet on how the trophoblast protects fetal tissues from attack by maternal NK cells in the decidua, but, alas, the BioMedNet web site closed on 30 June 2004, and took the article with it.
	webpages.charter.net /cfmoxey/lectures/reproductive_physiology_2.html (813 words)

	CCR: NIGMS HGCR Diagnosis List
		APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO
		EHLERS-DANLOS SYNDROME, TYPE I; E-D I; EDS I
		EHLERS-DANLOS SYNDROME, TYPE II; E-D II; EDS II
	ccr.coriell.org /nigms/diag/diaglist.html (266 words)

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