
	Where results make sense

Topic: 46,XX

Related Topics

46,XY

Y chromosome

Chromosome

Sex chromosome

X chromosome

Sex

Gender of rearing

Man

Homosexuality

Penis

Greek mythology

In the News (Mon 6 Jul 09)

Northern Trust

Marvin Harrison

Peter Chernin

Gary Locke

Match Play

Penelope Cruz

Mickey Rourke

AR Rahman

Danny Boyle

Hugh Jackman

	Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome -- Kusz et al. 36 (6): 452 ...
		46,XX maleness is a rare abnormality of sex determination with an incidence of 1 in 20 000.
		STS sequences in two 46,XX males with hypospadias and three 46,XX true hermaphrodites are presented in table 2.
		The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.
	jmg.bmj.com /cgi/content/full/36/6/452 (2918 words)

	XX Male
		We describe here a case of 46,XX infertile azoospermic male with normal male phenotypes showing the absence of SRY region on Fluorescent In Situ Hybridization (FISH) analysis.
		It is possible that in the present case XX male (SRY negative) may have a recessive mutation in the Z locus, so that it cannot switch off the male determining genes [11] and therefore the present case has normal male phenotypes and testicular development.
		The role of the sex-determining region Y gene in the etiology of 46,XX maleness.
	www.priory.com /med/xx.htm (1356 words)

	eMedicine - Ovotestis : Article by Gail F Whitman-Elia, MD
		Ovarian differentiation appears to rely on a mechanism that is triggered in the absence of the testicular determinant.
		Surgical Care: With the exception of 46,XX individuals with CAH or documented maternal androgen excess, most patients with genital ambiguity require surgical exploration for diagnostic confirmation and removal of contradictory gonadal tissue.
		Inoue H, Nomura M, Yanase T, et al: A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.
	www.emedicine.com /med/topic1702.htm (4999 words)

	46,XX gonadal dysgenesis, gonadoblastoma, dysgerminoma,...
		46,XX gonadal dysgenesis, gonadoblastoma, dysgerminoma, and tumor markers
		A 20-years-old woman 46,XX without Y-chm by PCR is described with primary amenorrhea, normal height, rudimentary uterus and streak gonads, in which histopathological analysis disclosed a focal gonadoblastoma with dysgerminoma associated to hillus cell hyperplasia in the left gonad.
		In the present case dysgerminoma developed in a 46,XX milieu, in the absence of Y-chm pointing to the possibility of other markers alone or associated to the high levels of FSH.
	www.cancerprev.org /Journal/Issues/26/101/1291/4515 (343 words)

	46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism -- AMOR et al. 36 (11): 866 -- Journal of Medical ...
		The finding of a mixture of both 46,XX and 46,XY cells in amniotic fluid culture has been frequently described.
		In the sixth case, an amniocentesis performed at 16 weeks' gestation showed 46,XX and 46,XY cells in a 4:1 ratio.
		Resorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood.
	jmg.bmj.com /cgi/content/full/36/11/866 (1904 words)

	Familial Sex Reversal: A Review -- Sarafoglou and Ostrer 85 (2): 483 -- Journal of Clinical Endocrinology & Metabolism
		A, Translocations of SRY are known to be associated with 80% of cases of 46,XX maleness.
		B, Mutations in the SRY, SOX9, SF1, and WT1 genes are associated with 46,XY gonadal dysgenesis, as are deletions of chromosome 2q, 9p, and 10q, and duplication of chromosome Xp21.
		In contrast, the uncle was a 46,XX male with normal male phenotype.
	jcem.endojournals.org /cgi/content/full/85/2/483 (4927 words)

	BioMed Central \| Full text \| Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian ...
		Mutations in the coding regions of the KIT gene appear not to be a common cause of 46,XX spontaneous premature ovarian failure in North American women.
		Given the lack of symptoms/characteristics associated with trisomy 13 (multiple congenital anomolies with severe cognitive delays) we hypothesize that the derivative X chromosome is the inactivated X, thus sparing the patient the expected phenotype.
		All the exons of the gene (Figure 1A) were successfully amplified by PCR in all 10 controls and all 40 patients with 46,XX spontaneous premature ovarian failure.
	www.biomedcentral.com /1472-6874/2/8 (3520 words)

	Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA -- Barrett et al. 101 (51): ...
		Plots of CGH ratios, using a moving average of 1 Mb, for each chromosome in the tumor cell line using a 46,XX reference.
		Chromosome 17 plot (using a moving average of 50 kb) of 10-ng genomic DNA from MDA-MB-453 tumor cell line amplified with phi29 and hybridized to the CGH array.
		Raw data for X chromosome series; 46,XX vs. 46,XX from expression arrays.
	www.pnas.org /cgi/content/full/0407979101/DC1 (1023 words)

	UNSW Embryology-OMIM SEX REVERSAL, AUTOSOMAL, 2; SRA2
		Over 40 men with a 46,XX karyotype had been reported by 1972 (de la Chapelle, 1972); see 278850.
		Since molecular genetic analysis showed that both hermaphrodites as well as the 46,XX male were negative for Y-chromosomal sequences, testicular determination seemed to be due to varying expression of the same genetic defect, which presumably was incompletely penetrant.
		They pointed out that the 46,XX male could in fact have been a true hermaphrodite with unambiguous male external genitalia, since no surgical biopsy of both gonads to exclude the presence of ovarian parts was performed.
	embryology.med.unsw.edu.au /OMIMfind/gonad/OMIM-154230.htm (1619 words)

	NOVA Online \| Sex: Unknown \| The Intersex Spectrum
		The testes of normal 46,XY males secrete both Müllerian Inhibiting Substance (also known as MIS or antimüllerian hormone) and masculinizing androgenic hormones, while the ovaries of a normal 46,XX female secrete neither.
		In CAH, the absence of a critical enzyme allows a 46,XX fetus to produce androgens, resulting in ambiguous external genitals.
		Individuals with intact micropenises are often given testosterone to stimulate masculinizing puberty.
	www.pbs.org /wgbh/nova/gender/spectrum.html (773 words)

	Swyer's Syndrome (Complete 46, XY Gonadal Dysgenesis) - New Treatments, January 2, 2007 (Site not responding. Last check: 2007-10-09)
		Estrogen is given from age 11 years to 46,XY patients who have no uterus and in combination with cyclical progestogen to 46,XX patients who do have a uterus.
		The ovaries of 46,XX patients contain numerous follicles.
		In one case in which testosterone was provided as an aromatizable substrate, follicular maturation could be induced, but fertilization proved impossible.
	www.ccspublishing.com /journals4a/swyers_syndrome.htm (485 words)

	OCCURRENCE OF VIRILIXATION SIGNALS IN A FEMALE MARMOSET Leontopithecus chrysomelas (CALLITRICHIDAE; PRIMATES) WITH ...
		Two cell lineages were found with 46,XX and 46,XY chromosomes.
		This case is the first documented report of natural chimerism in marmosets without the freemartin condition.
		Figure 2 - Karyotype of metaphase with 46,XX chromosomes from a female Leontopithecus chrysomelas.
	www.isrvma.org /article/60_3_2.htm (1637 words)

	eMedicine - 17-Hydroxylase Deficiency Syndrome : Article by J Paul Frindik, MD (Site not responding. Last check: 2007-10-09)
		Reduced or absent levels of both gonadal and adrenal sex hormones result in sexual infantilism in 46,XX females and ambiguous genitalia in 46, XY males.
		The diagnosis may be suspected in an apparent female infant or young child with a history of an abdominal hernia, inguinal mass, or otherwise unexplained hypertension.
		Affected 46,XX females have normal external and internal female differentiation; newborn females appear normal.
	www.emedicine.com /ped/topic1046.htm (3081 words)

	Spontaneous Feminization in a 46,XX Female Patient with Congenital Lipoid Adrenal Hyperplasia Due to a Homozygous ...
		Spontaneous Feminization in a 46,XX Female Patient with Congenital Lipoid Adrenal Hyperplasia Due to a Homozygous Frameshift Mutation in the Steroidogenic Acute Regulatory Protein -- Bose et al.
		Spontaneous Feminization in a 46,XX Female Patient with Congenital Lipoid Adrenal Hyperplasia Due to a Homozygous Frameshift Mutation in the Steroidogenic Acute Regulatory Protein
		to adulthood (9, 30), but the small number of affected 46,XX patients precluded their study until recently.
	jcem.endojournals.org /cgi/content/full/82/5/1511 (4120 words)

	XX males without SRY gene and with infertility: Case report -- Abusheikha et al. 16 (4): 717 -- Human Reproduction
		Human males with a 46,XX karyotype are sterile males with normal
		(1990) The role of the sex-determining region Y gene in the aetiology of 46,XX maleness.
		(1986) Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,46XY and 46,X,dic(Y) females.
	humrep.oxfordjournals.org /cgi/content/full/16/4/717 (1555 words)

	Spontaneous Puberty in 46,XX Subjects with Congenital Lipoid Adrenal Hyperplasia . Ovarian Steroidogenesis Is Spared to ...
		Spontaneous Puberty in 46,XX Subjects with Congenital Lipoid Adrenal Hyperplasia.
		with 46,XX karyotypes were diagnosed with lipoid CAH as newborns
		A karyotype obtained at this time was 46,XX.
	www.jci.org /cgi/content/full/99/6/1265 (3978 words)

	WT1 splice site mutation in a 46,XX female with minimal-change nephrotic syndrome and Wilms' tumour -- Loirat et al. 18 ...
		Another point is that our patient is an additional case of FS in a 46,XX girl.
		Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.
		End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype.
	ndt.oxfordjournals.org /cgi/content/full/18/4/823 (1796 words)

	Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian ...
		Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian failure.
		Addison's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Addison's Disease, including details on chronic adrenal insufficiency, treatment, causes, medication.
		CONCLUSION(S): In women who present with 46,XX spontaneous premature ovarian failure as their primary concern there is a clear association between serum adrenal cortex autoantibodies and the presence of histologically confirmed autoimmune oophoritis.
	addisonsdisease.researchtoday.net /archive/1/8/64.htm (310 words)

	SciForums.com - View Profile: 46,XX
		SciForums.com - View Profile: 46,XX SciForums.com : View Profile
		You will need at least 20 posts to use this feature.
		46,XX is not a member of any public groups
	www.sciforums.com /member.php?u=18354 (29 words)

	UNSW Embryology- Reproductive System - Abnormalities
		True: 46,XX, Gonads both ovary and teste tissues, Ovotestes or ovary and testes
		Female Pseudohermaphrodites: 46,XX, Gonads are ovaries, external genitalia ambiguous, Hyperplastic adrenals secrete androgens
		Primary Hypogonadism: Defective anterior pituitary production of gonadotropin, lack of gonadotropin-releasing hormone
	embryology.med.unsw.edu.au /notes/genital2.htm (617 words)

Try your search on: Qwika (all wikis)