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Topic: Gonadal dysgenesis

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Gonadal dysgenesis Turner type

Gonadal dysgenesis mixed

Buster Gonad

Gonadal dysgenesis, XY female type

Gonadal dysgenesis, XX type

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	Gonadal dysgenesis (Site not responding. Last check: 2007-11-06)
		Gonadal Dysgenesis by Nichole E. Justus Gonadal dysgenesis also known as Swyer syndrome is characterized by "streak gonads" isa phenotypic female with a 46,XY karyotype.
		The syndrome is sometimes called "pure gonadal dysgenesis", however, thisdesignation may also refer to the presence of streak gonads with a 46,XX karyotype.
		It hasbeen suggested that mixed gonadal dysgenesis may be an extreme variant of true hermaphroditism and has been regarded as the mainform of manifestation of 45,X / 46,XY mosaicism.
	www.therfcc.org /gonadal-dysgenesis-8431.html (710 words)

	Mixed Gonadal Dysgenesis with Structural Anomalies of the Y Chromosome: 14(3): Letter (Site not responding. Last check: 2007-11-06)
		The present case was diagnosed as mixed gonadal dysgenesis because of the presence of unilateral testis, a contralateral streak gonad and gonosomal mosaicism with both XO and XY cell lines.
		We reported3 a two-year, six-month-old Arab female with mixed gonadal dysgenesis.4 She showed ambiguous external genitalia, right intra-abdominal testis, left streak gonad, bilateral müllerian derivatives, gonosomal mosaicism with multiple cell lines including structural aberrations of the Y chromosome in 36% of cells.
		The streak gonads of 45,X/46,XY individuals are histologically indistinguishable from the streak gonads of individuals with 45,X gonadal dysgenesis.
	www.kfshrc.edu.sa /annals/143/1435.html (826 words)

	Ozsoy
		The P element-associated dysgenesis, hybrid dysgenesis, of an individual fly is thought to be determined by the very presence of genomic P elements in that fly, and the categories are constructed by the levels of dysgenesis measured by appropriate genetical tests (Kidwell, 1986; Engels, 1996).
		The gonadal dysgenesis assay allows one to analyze the results of dysgenic crosses with marker strains, the visible changes in the overall morphology of gonads of the F
		A curious observation is that for one of the strains, Eryaman, the decisiveness of the GD determination from its A* cross is not unambiguous as for the rest of the populations; control (25°C) and induction (29°C) temperatures gavealmost the same activities in this population (21% GD at 29°C, and 18% at 25°C, Table 1).
	www.ou.edu /journals/dis/DIS85/Research/Ozsoy.htm (1170 words)

	Gonadal Dysgenesis - New Treatments, January 22, 2005 (Site not responding. Last check: 2007-11-06)
		Incomplete differentiation of the bipotential gonad into either an ovary or a testis (partial gonadal dysgenesis) is one of the most frequently encountered causes of genital ambiguity.
		One gonad is usually a streak (a tiny gonad with ovarian stroma and no ova), and the other is likely to be a fairly well-developed testis in which Leydig cells can usually be identified.
		Studies of XY gonadal hermaphroditism in an experimental animal model show that both true hermaphroditism and partial gonadal dysgenesis can stem from a common etiology and seem more like different parts of the same spectrum than distinct and separate disorders.
	www.ccspublishing.com /journals4a/gonadal_dysgenesis.htm (643 words)

	Human Reproduction, Seminars: Sexual Differentiation, Gonadal Dysgenesis
		Gonadal dysgenesis is characterized by Turner's syndrome in which women preset with an XO karyotype, short stature (mean adult height 141 + 0.6 cm), primary amenorrhea, streak gonads, and sexual infantilism.
		While Turner's syndrome (45, X) is the sine quo non of gonadal dysgenesis and is the chromosomal-complement found by pediatricians in 80% of young women manifesting these signs and symptoms, only 40% of women presenting with primary amenorrhea have the 45,X complement.
		Approximately 20-30% of patients with 46,XY gonadal dysgenesis develop a dysgerminoma or gonadoblastoma, therefore gonads should be removed from individuals with 46,XY gonadal dysgenesis.
	www-medlib.med.utah.edu /kw/human_reprod/seminars/seminar1B3.html (318 words)

	Atrazine-Induced Hermaphroditism at 0.1 ppb in American Leopard Frogs (Rana pipiens): Laboratory and Field Evidence
		The posterior portion of the gonad is filled with oocytes that are protruding through the testicular lobules and can be seen on the surface of the gonad; white arrows show areas where transverse cross-sections were taken.
		Both the proportion of males with gonadal dysgenesis and the proportion with testicular oocytes (hermaphrodites) were higher at the lower dose.
		This hypothesis is testable in the laboratory, as the proportion of exposed males with gonadal dysgenesis at metamorphosis should reflect the proportion of normal males in the population after metamorphosis.
	ehp.niehs.nih.gov /members/2003/5932/5932.html (5822 words)

	Disorders of Sexual Differentiation - New Treatments, January 22, 2005 (Site not responding. Last check: 2007-11-06)
		Complete XY gonadal dysgenesis usually is diagnosed when a healthy girl of normal stature becomes concerned in her midteens about lack of pubertal development.
		Chromosomal mosaicism is the cause in most cases; however, in the last 8 years, several genes that regulate gonadal differentiation and testis determination have been discovered, and mutations in several of them have been found in association with gonadal dysgenesis.
		The phenotype in XY subjects is similar to that in XY gonadal dysgenesis; the external genital genitalia are either female or ambiguous, gonads are usually not palpable, the serum gonadotropin levels are elevated.
	www.ccspublishing.com /journals4a/sexual_differentiation_disorders.htm (1290 words)

	GONADOBLASTOMA: A CLINICOPATHOLOGIC STUDY
		One had Swyer syndrome (pure gonadal dysgenesis) with a 46-XY karyotype, the second patient had a mixed 46-XY and 46-XO karyotype, and the third patient had male pseudohermaphrodism and a 46-XY karyotype.
		The nature of the gonad in which a gonadoblastoma originates is frequently not determined because there is often a mixed pattern of growth by the gonadoblastoma or a neoplastic germ cell element, most frequently a dysgerminoma.
		Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome.
	www.ams.ac.ir /AIM/0254/0254259.htm (978 words)

	Pure 46XY gonadal dysgenesis (Site not responding. Last check: 2007-11-06)
		The patients are phenotypic females with a 46 XY karyotype and hypoplastic gonads without germ cells.
		To date, 20% of 46 XY pure gonad dysgenesia are explained by a mutation or a deletion in SRY.
		The risk of gonadal neoplasia is high, dictating early prophylactic removal of these dysgenetic gonads.
	www.meb.uni-bonn.de /cgi-bin/mycite?ExtRef=ICDB/97161638 (131 words)

	eMedicine - Gonadoblastoma : Article Excerpt by: Dimitri Kuznetsov, MD (Site not responding. Last check: 2007-11-06)
		The 2 essential findings that predispose these abnormal gonads to undergo neoplastic transformation into gonadoblastoma are (1) the karyotype has either macroscopic or molecular evidence of a Y chromosome and (2) the gonads nearly always are located intra-abdominally.
		By the fifth week of fetal development, the path of gonadal differentiation is directed by the chromosomal sex of the fetus and, thereafter, the phenotypic sexual development of the individual.
		Patients with mixed gonadal dysgenesis (45,X/46,XY) have a 55% incidence, while the incidence of developing gonadoblastoma in individuals with androgen insensitivity/male pseudohermaphrodism (46,XY) has be.....
	www.emedicine.com /ped/byname/gonadoblastoma.htm (596 words)

	Familial Sex Reversal: A Review -- Sarafoglou and Ostrer 85 (2): 483 -- Journal of Clinical Endocrinology & Metabolism
		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.
		1994 Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene.
		1995 XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene.
	jcem.endojournals.org /cgi/content/full/85/2/483 (4896 words)

	NOVA Online \| Sex: Unknown \| The Intersex Spectrum
		In gonadal dysgenesis, the androgen receptors are intact while the androgen-secreting testes are not.
		Complete Gonadal Dysgenesis, in which neither androgens nor MIS are produced, yields female genitals and Müllerian duct formation, despite a genetic profile suggesting maleness.
		Partial Gonadal Dysgenesis results in ambiguous genitals and duct development, as some androgens and MIS are produced.
	www.pbs.org /wgbh/nova/gender/spectrum.html (773 words)

	Determinants of bone density and height in women with Androgen insenstivity,46XY Gonadal dysgenesis and 46XX Gonadal ... (Site not responding. Last check: 2007-11-06)
		Women with 46XY karyotype were 6 cm taller than those with 46XX.When controlled for height, bone mineral density [BMD] was significantly reduced and similar in each of the three study groups AIS 84 percent of control, 46XY gonadal dysgenesis 84 percent and 46XX gonadal dysgenesis 85 percent.
		gonadal dysgenesis, age of gonadectomy positively correlated with height [AIS,r=0.57,p=0.03;46XYgonadal dysgenesis,r=0.58,p=0.02].
		The association between age of gonadectomy and height is likely to be an epiphenomenon of late presentation and suggests that both androgen and oestrogen deficiency contribute to tall stature in 46XY women.
	www.endocrine-abstracts.org /ea/0004/ea0004p4.htm (279 words)

	Ovarian dysgenesis with balanced autosomal translocation. Tullu MS, Arora P, Parmar RC, Muranjan MN, Bharucha BA J ... (Site not responding. Last check: 2007-11-06)
		In an attempt to correlate the phenotypic variations in Turner syndrome, it was proposed that deletions of the short arm result in short stature with the Turner phenotype whereas the deletions of the long arm of one of the X chromosomes in the q13-q27 band leads to failure of ovarian development.
		The enigma of gonadal dysgenesis in such cases could possibly be attributed to the presence of autosomal gene(s) playing a role in the normal gonadal development.
		To summarise, autosomal abnormalities can be associated with gonadal dysgenesis, but in the absence of overwhelming evidence at present, it may be premature to implicate such abnormalities as having an aetiological role.
	www.jpgmonline.com /article.asp?issn=0022-3859;year=2001;volume=47;issue=2;spage=113;epage=5;aulast=Tullu (1099 words)

	Encyclopedia of Life Sciences (Site not responding. Last check: 2007-11-06)
		Among the latter is the locus responsible for camptomelia dysplasia and XY gonadal dysgenesis (sex reversal), located on 17q24.3 → q25.1.
		In most 45,X adults with gonadal dysgenesis, the normal gonad is replaced by a white fibrous streak, located in the position ordinarily occupied by the ovary.
		Gonadal tissue may be located in the ovarian, inguinal or labioscrotal regions.
	www.els.net /els/public/article/article_main.asp?id=91D76D93-96E5-4394-8630-C9E7AC6B8D46 (3810 words)

	Swyer syndrome
		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.
		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.
		A high incidence of neoplasia (gonadoblastomas and germinomas) in streak gonads of patients with the XY karyotype was claimed by Taylor et al.
	www.lymphedemapeople.com /thesite/swyer_syndrome.htm (4078 words)

	Gonadal tumor and H-Y antigen in 46,XY pure gonadal dysgenesis (Site not responding. Last check: 2007-11-06)
		Gonadal tumor and H-Y antigen in 46,XY pure gonadal dysgenesis.
		Six cases of Swyer's syndrome (46,XY pure gonadal dysgenesis) are reported.
		These findings suggest a relation between the tumorization potentiality of the gonadal remnants and the H-Y antigen levels in 46,XY pure gonadal dysgenesis.
	www.meb.uni-bonn.de /cgi-bin/mycite?ExtRef=ICDB/86133098 (153 words)

	Dysgerminoma in a Patient with Partial Deletion of X Chromosome (Site not responding. Last check: 2007-11-06)
		The patients who have gonadal dysgenesis are at increased risk of development of germ cell tumors.
		Germ cell tumors occur at a much higher frequency in subjects with gonadal dysgenesis associated with presence of a Y chromosome or structural abnormalities of the X chromosome (as noted in this patient).
		If dysgenetic gonads are found with Y cell line in phenotypic females, bilateral gonadectomy should be strongly considered in view of the known high incidence of gonadal malignancy in these patients.
	www.kfshrc.edu.sa /annals/203_204/99-298R.htm (1349 words)

	Medicine: Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex ... (Site not responding. Last check: 2007-11-06)
		Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.
		The term "gonadal dysgenesis" is generally used to describe a variety of clinical conditions in which development of the fetal gonad is abnormal.
		The 46,XY pure gonadal dysgenesis is characterized by a lack of testicular determination.
	highbeam.com /library/doc0.asp?docid=1G1:13742347&... (228 words)

	Publication Details - Patricia Fechner - Stanford University School of Medicine
		The condition termed 46,XY complete gonadal dysgenesis is characterized by a completely female phenotype and streak gonads.
		In contrast, subjects with 46,XY partial gonadal dysgenesis and those with embryonic testicular regression sequence usually present ambiguous genitalia and a mix of Müllerian and Wolffian structures.
		Although it is possible that the deletion was unrelated to the subject's phenotype, we propose that the deletion was responsible for the abnormal gonadal development by diminishing expression of SRY.
	www-med.stanford.edu /profiles/frdActionServlet?choiceId=showPublication&pubid=40785&fid=4691 (356 words)

	INTERSEX DISORDERS Pediatric Oncall (Site not responding. Last check: 2007-11-06)
		Classification: In the past Intersex disorders were classified as female pseudohermaphroditism, male pseudohermaphroditism, mixed gonadal dysgenesis and true hermaphroditism.
		Risk of gonadal malignancy: Presence of Y chromosome in a child with intersex increases the risk of gonadoblastoma and dysgerminoma.
		If raised as a male, the gonads should be brought down to the scrotum and examined at a regular interval.
	www.pediatriconcall.com /fordoctor/diseasesandcondition/intersex_disorders.asp (590 words)

	eMedicine - Gonadoblastoma : Article by Dimitri Kuznetsov, MD (Site not responding. Last check: 2007-11-06)
		Patients with mixed gonadal dysgenesis (45,X/46,XY) have a 55% incidence, while the incidence of developing gonadoblastoma in individuals with androgen insensitivity/male pseudohermaphrodism (46,XY) has been reported to be 30-66%.
		The physical examination of patients with mixed gonadal dysgenesis (45,X/46,XY) is noteworthy for ambiguous genitalia with varying degrees of phallic enlargement, undescended testis, and a urogenital sinus with labioscrotal fusion.
		In a review of 140 patients with dysgenic gonads, Troche and Hernandez (1986) found that the neoplastic transformation of abnormal gonads was common, and bilateral involvement occurred in 38.6% of patients.
	www.emedicine.com /PED/topic882.htm (3873 words)

	Intersex Support Group INTERSEX DEFINED
		In general, the likelihood of gonadal tumors is small (~5%) before mid-twenties, and
		gonads are at elevated risk, and should be carefully monitored.
		gonads, are a big advantage over hormone replacement therapy.
	www.xyxo.org /isgi/isdef.html (683 words)

	Intersex Initiative: News - Prenatal Diagnosis of Partial Mixed Gonadal Dysgenesis
		The case involves a pregnant woman whose first son had partial mixed gonadal dysgenesis, who came in to test her fetus for the recurrence of the same condition.
		Doctors proposed the parents that the child be raised as a girl, explaining that "it is possible to treat with appropriate means and to enable a good quality of life," but the parents chose to terminate the pregnancy.
		According to the article, the child went through laparotomy (to examine the intra-abdominal gonads) at age three, bilateral gonadectomy at age four, and masculinizing genitoplasty at age six--all before he was old enough to understand the procedure.
	www.ipdx.org /news/000053.html (423 words)

	Atrazine-Induced Hermaphroditism at 0.1 PPB in American Frogs (Rana pipiens): Laboratory and Field Evidence ...
		Furthermore, we observed gonadal dysgenesis and hermaphroditism in animals collected from atrazine-contaminated sites across the U.S. These coordinated laboratory and field studies revealed the potential biological impact of atrazine contamination in the environment.
		The entire posterior gonad is ovarian and oocytes are beginning to grow in the anterior portion.
		The posterior portion of the gonad is filled with oocytes that are protruding through the testicular lobules and can be seen on the surface of the gonad (8a).
	www.mindfully.org /Pesticide/2002/Atrazine-Induced-Hermaphroditism23oct02.htm (5873 words)

	A FEW OF THE CAUSES
		If the gonad fails to progress beyond the indifferent stage, it may produce no testosterone Swyer's Syndrome, complete 46 XY gonadal dysgenesis, swyer syndrome, swyers syndrome.
		Eunuchoid skeletal proportions may be found, and the bone age will be delayed Swyer's Syndrome, complete 46 XY gonadal dysgenesis, swyer syndrome, swyers syndrome.
		Primary gonadal failure is indicated by elevated levels of serum follicle-stimulating (FSH) and luteinizing hormone (LH) and a low plasma estradiol level.
	www.2beornot2be.com /Chromosomes/intersexed/afewcauses.html (1291 words)

	Turner Syndrome - Bonnevie-Ullrich Syndrome - information page with HONselect
		Definition: A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (
		Broader term(s): - Gonadal Dysgenesis - Chromosome Disorders - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
		Broader term(s): - Gonadal Dysgenesis - Sex Differentiation Disorders - Urogenital Abnormalities - Urogenital Diseases - Urologic and Male Genital Diseases - Sex Chromosome Disorders - Chromosome Disorders - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	www.hon.ch /HONselect/RareDiseases/EN/C13.371.820.700.842.309.872.html (730 words)

	Testis and Scrotum
		True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases.
		True hermaphroditism (TH) refers to individuals who have both unequivocal ovarian tissue and testicular elements regardless of their karyotypes; whereas mixed gonadal dysgenesis (MGD) refers to individuals who usually have a differentiated gonad on one side and a streak gonad or streak testis on the other side.
		In conclusion, a differential diagnosis between TH and MGD is largely dependent on the histological features of the gonads.
	www.thedoctorsdoctor.com /bodysites/genitalmale.htm (397 words)

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